An Unusual Accumulation of Ribosomal Multigene Families and Microsatellite DNAs in the XX/XY Sex Chromosome System in the Trans-Andean Catfish Pimelodella cf. chagresi (Siluriformes:Heptapteridae).

PubMed

Conde-Saldaña, Cristhian Camilo; Barreto, Cynthia Aparecida Valiati; Villa-Navarro, Francisco Antonio; Dergam, Jorge Abdala

2018-02-01

This work constitutes the first cytogenetic characterization of a trans-Andean species of Heptapteridae. The catfish Pimelodella cf. chagresi from the Upper Rio Magdalena was studied, applying standard cytogenetic techniques (Giemsa, C-banding, and argyrophilic nucleolar organizer region [Ag-NOR]) and fluorescence in situ hybridization techniques using repetitive DNA probes: microsatellites (CA 15 and GA 15 ) and ribosomal RNA (rRNA) multigene families (18S and 5S recombinant DNA [rDNA] probes). The species showed a unique diploid chromosome number 2n = 50 (32m [metacentrics] +14sm [submetacentrics] +4st [subtelocentrics]) and a XX/XY sex chromosomal system, where the heteromorphic Y-chromosome revealed a conspicuous accumulation of all the assayed domains of repetitive DNA. P. cf. chagresi karyotype shares common features with other Heptapteridae, such as the predominance of metacentric and submetacentric chromosomes, and one pair of subtelomeric nucleolar organizer regions (NORs). These results reflect an independent karyological identity of a trans-Andean species and the relevance of repetitive DNA sequences in the process of sex chromosome differentiation in fish; it is the first case of syntenic accumulation of rRNA multigene families (18S and 5S rDNA) and microsatellite sequences (CA 15 and GA 15 ) in a differentiated sex chromosome in Neotropical fish.

Differential expression of the eight genes of the petunia ribulose bisphosphate carboxylase small subunit multi-gene family

PubMed Central

Dean, Caroline; Elzen, Peter van den; Tamaki, Stanley; Dunsmuir, Pamela; Bedbrook, John

1985-01-01

Of the eight nuclear genes in the plant multi-gene family which encodes the small subunit (rbcS) of Petunia (Mitchell) ribulose bisphosphate carboxylase, one rbcS gene accounts for 47% of the total rbcS gene expression in petunia leaf tissue. Expression of each of five other rbcS genes is detected at levels between 2 and 23% of the total rbcS expression in leaf tissue, while expression of the remaining two rbcS genes is not detected. There is considerable variation (500-fold) in the levels of total rbcS mRNA in six organs of petunia (leaves, sepals, petals, stems, roots and stigmas/anthers). One gene, SSU301, showed the highest levels of steady-state mRNA in each of the organs examined. We discuss the differences in the steady-state mRNA levels of the individual rbcS genes in relation to their gene structure, nucleotide sequence and genomic linkage. ImagesFig. 2.Fig. 3. PMID:16453647

The drosomycin multigene family: three-disulfide variants from Drosophila takahashii possess antibacterial activity

PubMed Central

Gao, Bin; Zhu, Shunyi

2016-01-01

Drosomycin (DRS) is a strictly antifungal peptide in Drosophila melanogaster, which contains four disulfide bridges (DBs) with three buried in molecular interior and one exposed on molecular surface to tie the amino- and carboxyl-termini of the molecule together (called wrapper disulfide bridge, WDB). Based on computational analysis of genomes of Drosophila species belonging to the Oriental lineage, we identified a new multigene family of DRS in Drosphila takahashii that includes a total of 11 DRS-encoding genes (termed DtDRS-1 to DtDRS-11) and a pseudogene. Phylogenetic tree and synteny analyses reveal orthologous relationship between DtDRSs and DRSs, indicating that orthologous genes of DRS-1, DRS-2, DRS-3 and DRS-6 have undergone duplication in D. takahashii and three amplifications (DtDRS-9 to DtDRS-11) of DRS-3 have lost WDB. Among the 11 genes, five are transcriptionally active in adult fruitflies. The ortholog of DRS (DtDRS-1) shows high structural and functional similarity to DRS while two WDB-deficient members display antibacterial activity accompanying complete loss or remarkable reduction of antifungal activity. To the best of our knowledge, this is the first report on the presence of three-disulfide antibacterial DRSs in a specific Drosophila species, suggesting a potential role of DB loss in neofunctionalization of a protein via structural adjustment. PMID:27562645

Differential expression of members of the annexin multigene family in Arabidopsis

NASA Technical Reports Server (NTRS)

Clark, G. B.; Sessions, A.; Eastburn, D. J.; Roux, S. J.

2001-01-01

Although in most plant species no more than two annexin genes have been reported to date, seven annexin homologs have been identified in Arabidopsis, Annexin Arabidopsis 1-7 (AnnAt1--AnnAt7). This establishes that annexins can be a diverse, multigene protein family in a single plant species. Here we compare and analyze these seven annexin gene sequences and present the in situ RNA localization patterns of two of these genes, AnnAt1 and AnnAt2, during different stages of Arabidopsis development. Sequence analysis of AnnAt1--AnnAt7 reveals that they contain the characteristic four structural repeats including the more highly conserved 17-amino acid endonexin fold region found in vertebrate annexins. Alignment comparisons show that there are differences within the repeat regions that may have functional importance. To assess the relative level of expression in various tissues, reverse transcription-PCR was carried out using gene-specific primers for each of the Arabidopsis annexin genes. In addition, northern blot analysis using gene-specific probes indicates differences in AnnAt1 and AnnAt2 expression levels in different tissues. AnnAt1 is expressed in all tissues examined and is most abundant in stems, whereas AnnAt2 is expressed mainly in root tissue and to a lesser extent in stems and flowers. In situ RNA localization demonstrates that these two annexin genes display developmentally regulated tissue-specific and cell-specific expression patterns. These patterns are both distinct and overlapping. The developmental expression patterns for both annexins provide further support for the hypothesis that annexins are involved in the Golgi-mediated secretion of polysaccharides.

Olfactory Receptor Multigene Family in Vertebrates: From the Viewpoint of Evolutionary Genomics

PubMed Central

Niimura, Yoshihito

2012-01-01

Olfaction is essential for the survival of animals. Diverse odor molecules in the environment are detected by the olfactory receptors (ORs) in the olfactory epithelium of the nasal cavity. There are ~400 and ~1,000 OR genes in the human and mouse genomes, respectively, forming the largest multigene family in mammals. The relationships between ORs and odorants are multiple-to-multiple, which allows for discriminating almost unlimited number of different odorants by a combination of ORs. However, the OR-ligand relationships are still largely unknown, and predicting the quality of odor from its molecular structure is unsuccessful. Extensive bioinformatic analyses using the whole genomes of various organisms revealed a great variation in number of OR genes among species, reflecting the diversity of their living environments. For example, higher primates equipped with a well-developed vision system and dolphins that are secondarily adapted to the aquatic life have considerably smaller numbers of OR genes than most of other mammals do. OR genes are characterized by extremely frequent gene duplications and losses. The OR gene repertories are also diverse among human individuals, explaining the diversity of odor perception such as the specific anosmia. OR genes are present in all vertebrates. The number of OR genes is smaller in teleost fishes than in mammals, while the diversity is higher in the former than the latter. Because the genome of amphioxus, the most basal chordate species, harbors vertebrate-like OR genes, the origin of OR genes can be traced back to the common ancestor of the phylum Chordata. PMID:23024602

Evidence for 5S rDNA Horizontal Transfer in the toadfish Halobatrachus didactylus (Schneider, 1801) based on the analysis of three multigene families

PubMed Central

2012-01-01

Background The Batrachoididae family is a group of marine teleosts that includes several species with more complicated physiological characteristics, such as their excretory, reproductive, cardiovascular and respiratory systems. Previous studies of the 5S rDNA gene family carried out in four species from the Western Atlantic showed two types of this gene in two species but only one in the other two, under processes of concerted evolution and birth-and-death evolution with purifying selection. Here we present results of the 5S rDNA and another two gene families in Halobatrachus didactylus, an Eastern Atlantic species, and draw evolutionary inferences regarding the gene families. In addition we have also mapped the genes on the chromosomes by two-colour fluorescence in situ hybridization (FISH). Results Two types of 5S rDNA were observed, named type α and type β. Molecular analysis of the 5S rDNA indicates that H. didactylus does not share the non-transcribed spacer (NTS) sequences with four other species of the family; therefore, it must have evolved in isolation. Amplification with the type β specific primers amplified a specific band in 9 specimens of H. didactylus and two of Sparus aurata. Both types showed regulatory regions and a secondary structure which mark them as functional genes. However, the U2 snRNA gene and the ITS-1 sequence showed one electrophoretic band and with one type of sequence. The U2 snRNA sequence was the most variable of the three multigene families studied. Results from two-colour FISH showed no co-localization of the gene coding from three multigene families and provided the first map of the chromosomes of the species. Conclusions A highly significant finding was observed in the analysis of the 5S rDNA, since two such distant species as H. didactylus and Sparus aurata share a 5S rDNA type. This 5S rDNA type has been detected in other species belonging to the Batrachoidiformes and Perciformes orders, but not in the Pleuronectiformes

Evidence for 5S rDNA horizontal transfer in the toadfish Halobatrachus didactylus (Schneider, 1801) based on the analysis of three multigene families.

PubMed

Merlo, Manuel A; Cross, Ismael; Palazón, José L; Ubeda-Manzanaro, María; Sarasquete, Carmen; Rebordinos, Laureana

2012-10-07

The Batrachoididae family is a group of marine teleosts that includes several species with more complicated physiological characteristics, such as their excretory, reproductive, cardiovascular and respiratory systems. Previous studies of the 5S rDNA gene family carried out in four species from the Western Atlantic showed two types of this gene in two species but only one in the other two, under processes of concerted evolution and birth-and-death evolution with purifying selection. Here we present results of the 5S rDNA and another two gene families in Halobatrachus didactylus, an Eastern Atlantic species, and draw evolutionary inferences regarding the gene families. In addition we have also mapped the genes on the chromosomes by two-colour fluorescence in situ hybridization (FISH). Two types of 5S rDNA were observed, named type α and type β. Molecular analysis of the 5S rDNA indicates that H. didactylus does not share the non-transcribed spacer (NTS) sequences with four other species of the family; therefore, it must have evolved in isolation. Amplification with the type β specific primers amplified a specific band in 9 specimens of H. didactylus and two of Sparus aurata. Both types showed regulatory regions and a secondary structure which mark them as functional genes. However, the U2 snRNA gene and the ITS-1 sequence showed one electrophoretic band and with one type of sequence. The U2 snRNA sequence was the most variable of the three multigene families studied. Results from two-colour FISH showed no co-localization of the gene coding from three multigene families and provided the first map of the chromosomes of the species. A highly significant finding was observed in the analysis of the 5S rDNA, since two such distant species as H. didactylus and Sparus aurata share a 5S rDNA type. This 5S rDNA type has been detected in other species belonging to the Batrachoidiformes and Perciformes orders, but not in the Pleuronectiformes and Clupeiformes orders. Two

Unraveling the Nature of Magnetism of the 5 d4 Double Perovskite Ba2 YIrO6

NASA Astrophysics Data System (ADS)

Fuchs, S.; Dey, T.; Aslan-Cansever, G.; Maljuk, A.; Wurmehl, S.; Büchner, B.; Kataev, V.

2018-06-01

We report electron spin resonance (ESR) spectroscopy results on the double perovskite Ba2 YIrO6 . On general grounds, this material is expected to be nonmagnetic due to the strong coupling of the spin and orbital momenta of Ir5 + (5 d4 ) ions. However, controversial experimental reports on either strong antiferromagnetism with static order at low temperatures or just a weakly paramagnetic behavior have triggered a discussion on the breakdown of the generally accepted scenario of the strongly spin-orbit coupled ground states in the 5 d4 iridates and the emergence of a novel exotic magnetic state. Our data evidence that the magnetism of the studied material is solely due to a few percent of Ir4 + and Ir6 + magnetic defects while the regular Ir5 + sites remain nonmagnetic. Remarkably, the defect Ir6 + species manifest magnetic correlations in the ESR spectra at T ≲20 K , suggesting a long-range character of superexchange in the double perovskites as proposed by recent theories.

Zebra Fish Lacking Adaptive Immunity Acquire an Antiviral Alert State Characterized by Upregulated Gene Expression of Apoptosis, Multigene Families, and Interferon-Related Genes

PubMed Central

García-Valtanen, Pablo; Martínez-López, Alicia; López-Muñoz, Azucena; Bello-Perez, Melissa; Medina-Gali, Regla M.; Ortega-Villaizán, María del Mar; Varela, Monica; Figueras, Antonio; Mulero, Víctoriano; Novoa, Beatriz; Estepa, Amparo; Coll, Julio

2017-01-01

To investigate fish innate immunity, we have conducted organ and cell immune-related transcriptomic as well as immunohistologic analysis in mutant zebra fish (Danio rerio) lacking adaptive immunity (rag1−/−) at different developmental stages (egg, larvae, and adult), before and after infection with spring viremia carp virus (SVCV). The results revealed that, compared to immunocompetent zebra fish (rag1+/+), rag1−/− acquired increased resistance to SVCV with age, correlating with elevated transcript levels of immune genes in skin/fins and lymphoid organs (head kidney and spleen). Gene sets corresponding to apoptotic functions, immune-related multigene families, and interferon-related genes were constitutively upregulated in uninfected adult rag1−/− zebra fish. Overexpression of activated CASPASE-3 in different tissues before and after infection with SVCV further confirmed increased apoptotic function in rag1−/− zebra fish. Concurrently, staining of different tissue samples with a pan-leukocyte antibody marker showed abundant leukocyte infiltrations in SVCV-infected rag1−/− fish, coinciding with increased transcript expression of genes related to NK-cells and macrophages, suggesting that these genes played a key role in the enhanced immune response of rag1−/− zebra fish to SVCV lethal infection. Overall, we present evidence that indicates that rag1−/− zebra fish acquire an antiviral alert state while they reach adulthood in the absence of adaptive immunity. This antiviral state was characterized by (i) a more rapid response to viral infection, which resulted in increased survival, (ii) the involvement of NK-cell- and macrophage-mediated transcript responses rather than B- and/or T-cell dependent cells, and (iii) enhanced apoptosis, described here for the first time, as well as the similar modulation of multigene family/interferon-related genes previously associated to fish that survived lethal viral infections. From this and other studies

Sensitivity of African swine fever virus to type I interferon is linked to genes within multigene families 360 and 505.

PubMed

Golding, Josephine P; Goatley, Lynnette; Goodbourn, Steve; Dixon, Linda K; Taylor, Geraldine; Netherton, Christopher L

2016-06-01

African swine fever virus (ASFV) causes a lethal haemorrhagic disease of pigs. There are conflicting reports on the role of interferon in ASFV infection. We therefore analysed the interaction of ASFV with porcine interferon, in vivo and in vitro. Virulent ASFV induced biologically active IFN in the circulation of pigs from day 3-post infection, whereas low virulent OUR T88/3, which lacks genes from multigene family (MGF) 360 and MGF505, did not. Infection of porcine leucocytes enriched for dendritic cells, with ASFV, in vitro, induced high levels of interferon, suggesting a potential source of interferon in animals undergoing acute ASF. Replication of OUR T88/3, but not virulent viruses, was reduced in interferon pretreated macrophages and a recombinant virus lacking similar genes to those absent in OUR T88/3 was also inhibited. These findings suggest that as well as inhibiting the induction of interferon, MGF360 and MGF505 genes also enable ASFV to overcome the antiviral state. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Ternary germanides RERhGe2 (RE = Y, Gd-Ho) - New representatives of the YIrGe2 type

NASA Astrophysics Data System (ADS)

Voßwinkel, Daniel; Heletta, Lukas; Hoffmann, Rolf-Dieter; Pöttgen, Rainer

2016-11-01

The YIrGe2 type ternary germanides RERhGe2 (RE = Y, Gd-Ho) were synthesized from the elements by arc-melting and characterized by powder X-ray diffraction. The structure of DyRhGe2 was refined from single crystal X-ray diffractometer data: Immm, a = 426.49(9), b = 885.0(2), c = 1577.4(3) pm, wR2 = 0.0533, 637 F2 values, 30 variables (300 K data). The structure contains two crystallographically independent dysprosium atoms in pentagonal prismatic and hexagonal prismatic coordination. The three-dimensional [RhGe2] polyanion is stabilized through covalent Rh-Ge (243-261 pm) and Ge-Ge (245-251 pm) bonding. The close structural relationship with the slightly rhodium-poorer germanides RE5Rh4Ge10 (≡ RERh0.8Ge2) is discussed. Temperature-dependent magnetic susceptibility measurements reveal Pauli paramagnetism for YRhGe2 and Curie-Weiss paramagnetism for RERhGe2 with RE = Gd, Tb, Dy and Ho. These germanides order antiferromagnetically at TN = 7.2(5), 10.6(5), 8.1(5), and 6.4(5) K, respectively.

Sequence of rat alpha- and gamma-casein mRNAs: evolutionary comparison of the calcium-dependent rat casein multigene family.

PubMed Central

Hobbs, A A; Rosen, J M

1982-01-01

The complete sequences of rat alpha- and gamma-casein mRNAs have been determined. The 1402-nucleotide alpha- and 864-nucleotide gamma-casein mRNAs both encode 15 amino acid signal peptides and mature proteins of 269 and 164 residues, respectively. Considerable homology between the 5' non-coding regions, and the regions encoding the signal peptides and the phosphorylation sites, in these mRNAs as compared to several other rodent casein mRNAs, was observed. Significant homology was also detected between rat alpha- and bovine alpha s1-casein. Comparison of the rodent and bovine sequences suggests that the caseins evolved at about the time of the appearance of the primitive mammals. This may have occurred by intragenic duplication of a nucleotide sequence encoding a primitive phosphorylation site, -(Ser)n-Glu-Glu-, and intergenic duplication resulting in the small casein multigene family. A unique feature of the rat alpha-casein sequence is an insertion in the coding region containing 10 repeated elements of 18 nucleotides each. This insertion appears to have occurred 7-12 million years ago, just prior to the divergence of rat and mouse. Images PMID:6298707

Partial sequence homogenization in the 5S multigene families may generate sequence chimeras and spurious results in phylogenetic reconstructions.

PubMed

Galián, José A; Rosato, Marcela; Rosselló, Josep A

2014-03-01

Multigene families have provided opportunities for evolutionary biologists to assess molecular evolution processes and phylogenetic reconstructions at deep and shallow systematic levels. However, the use of these markers is not free of technical and analytical challenges. Many evolutionary studies that used the nuclear 5S rDNA gene family rarely used contiguous 5S coding sequences due to the routine use of head-to-tail polymerase chain reaction primers that are anchored to the coding region. Moreover, the 5S coding sequences have been concatenated with independent, adjacent gene units in many studies, creating simulated chimeric genes as the raw data for evolutionary analysis. This practice is based on the tacitly assumed, but rarely tested, hypothesis that strict intra-locus concerted evolution processes are operating in 5S rDNA genes, without any empirical evidence as to whether it holds for the recovered data. The potential pitfalls of analysing the patterns of molecular evolution and reconstructing phylogenies based on these chimeric genes have not been assessed to date. Here, we compared the sequence integrity and phylogenetic behavior of entire versus concatenated 5S coding regions from a real data set obtained from closely related plant species (Medicago, Fabaceae). Our results suggest that within arrays sequence homogenization is partially operating in the 5S coding region, which is traditionally assumed to be highly conserved. Consequently, concatenating 5S genes increases haplotype diversity, generating novel chimeric genotypes that most likely do not exist within the genome. In addition, the patterns of gene evolution are distorted, leading to incorrect haplotype relationships in some evolutionary reconstructions.

Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.

PubMed

Szymanski, Eva P; Leung, Janice M; Fowler, Cedar J; Haney, Carissa; Hsu, Amy P; Chen, Fei; Duggal, Priya; Oler, Andrew J; McCormack, Ryan; Podack, Eckhard; Drummond, Rebecca A; Lionakis, Michail S; Browne, Sarah K; Prevots, D Rebecca; Knowles, Michael; Cutting, Gary; Liu, Xinyue; Devine, Scott E; Fraser, Claire M; Tettelin, Hervé; Olivier, Kenneth N; Holland, Steven M

2015-09-01

The clinical features of patients infected with pulmonary nontuberculous mycobacteria (PNTM) are well described, but the genetic components of infection susceptibility are not. To examine genetic variants in patients with PNTM, their unaffected family members, and a control group. Whole-exome sequencing was done on 69 white patients with PNTM and 18 of their white unaffected family members. We performed a candidate gene analysis using immune, cystic fibrosis transmembrance conductance regulator (CFTR), cilia, and connective tissue gene sets. The numbers of patients, family members, and control subjects with variants in each category were compared, as was the average number of variants per person. A significantly higher number of patients with PNTM than the other subjects had low-frequency, protein-affecting variants in immune, CFTR, cilia, and connective tissue categories (35, 26, 90, and 90%, respectively). Patients with PNTM also had significantly more cilia and connective tissue variants per person than did control subjects (2.47 and 2.55 compared with 1.38 and 1.40, respectively; P = 1.4 × 10(-6) and P = 2.7 × 10(-8), respectively). Patients with PNTM had an average of 5.26 variants across all categories (1.98 in control subjects; P = 2.8 × 10(-17)), and they were more likely than control subjects to have variants in multiple categories. We observed similar results for family members without PNTM infection, with the exception of the immune category. Patients with PNTM have more low-frequency, protein-affecting variants in immune, CFTR, cilia, and connective tissue genes than their unaffected family members and control subjects. We propose that PNTM infection is a multigenic disease in which combinations of variants across gene categories, plus environmental exposures, increase susceptibility to the infection.

InterB multigenic family, a gene repertoire associated with subterminal chromosome regions of Encephalitozoon cuniculi and conserved in several human-infecting microsporidian species.

PubMed

Dia, Ndongo; Lavie, Laurence; Méténier, Guy; Toguebaye, Bhen S; Vivarès, Christian P; Cornillot, Emmanuel

2007-03-01

Microsporidia are fungi-related obligate intracellular parasites that infect numerous animals, including man. Encephalitozoon cuniculi harbours a very small genome (2.9 Mbp) with about 2,000 coding sequences (CDSs). Most repeated CDSs are of unknown function and are distributed in subterminal regions that mark the transitions between subtelomeric rDNA units and chromosome cores. A potential multigenic family (interB) encoding proteins within a size range of 579-641 aa was investigated by PCR and RT-PCR. Thirty members were finally assigned to the E. cuniculi interB family and a predominant interB transcript was found to originate from a newly identified gene on chromosome III. Microsporidian species from eight different genera infecting insects, fishes or mammals, were tested for a possible intra-phylum conservation of interB genes. Only representatives of the Encephalitozoon, Vittaforma and Brachiola genera, differing in host range but all able to invade humans, were positive. Molecular karyotyping of Brachiola algerae showed a complex set of chromosome bands, providing a haploid genome size estimate of 15-20 Mbp. In spite of this large difference in genome complexity, B. algerae and E. cuniculi shared some similar interB gene copies and a common location of interB genes in near-rDNA subterminal regions.

Revisiting the diffusion approximation to estimate evolutionary rates of gene family diversification.

PubMed

Gjini, Erida; Haydon, Daniel T; David Barry, J; Cobbold, Christina A

2014-01-21

Genetic diversity in multigene families is shaped by multiple processes, including gene conversion and point mutation. Because multi-gene families are involved in crucial traits of organisms, quantifying the rates of their genetic diversification is important. With increasing availability of genomic data, there is a growing need for quantitative approaches that integrate the molecular evolution of gene families with their higher-scale function. In this study, we integrate a stochastic simulation framework with population genetics theory, namely the diffusion approximation, to investigate the dynamics of genetic diversification in a gene family. Duplicated genes can diverge and encode new functions as a result of point mutation, and become more similar through gene conversion. To model the evolution of pairwise identity in a multigene family, we first consider all conversion and mutation events in a discrete manner, keeping track of their details and times of occurrence; second we consider only the infinitesimal effect of these processes on pairwise identity accounting for random sampling of genes and positions. The purely stochastic approach is closer to biological reality and is based on many explicit parameters, such as conversion tract length and family size, but is more challenging analytically. The population genetics approach is an approximation accounting implicitly for point mutation and gene conversion, only in terms of per-site average probabilities. Comparison of these two approaches across a range of parameter combinations reveals that they are not entirely equivalent, but that for certain relevant regimes they do match. As an application of this modelling framework, we consider the distribution of nucleotide identity among VSG genes of African trypanosomes, representing the most prominent example of a multi-gene family mediating parasite antigenic variation and within-host immune evasion. © 2013 Published by Elsevier Ltd. All rights reserved.

Multigene Family Encoding 3′,5′-Cyclic-GMP-Dependent Protein Kinases in Paramecium tetraurelia Cells

PubMed Central

Kissmehl, Roland; Krüger, Tim P.; Treptau, Tilman; Froissard, Marine; Plattner, Helmut

2006-01-01

In the ciliate Paramecium tetraurelia, 3′,5′-cyclic GMP (cGMP) is one of the second messengers involved in several signal transduction pathways. The enzymes for its production and degradation are well established for these cells, whereas less is known about the potential effector proteins. On the basis of a current Paramecium genome project, we have identified a multigene family with at least 35 members, all of which encode cGMP-dependent protein kinases (PKGs). They can be classified into 16 subfamilies with several members each. Two of the genes, PKG1-1 and PKG2-1, were analyzed in more detail after molecular cloning. They encode monomeric enzymes of 770 and 819 amino acids, respectively, whose overall domain organization resembles that in higher eukaryotes. The enzymes contain a regulatory domain of two tandem cyclic nucleotide-binding sites flanked by an amino-terminal region for intracellular localization and a catalytic domain with highly conserved regions for ATP binding and catalysis. However, some Paramecium PKGs show a different structure. In Western blots, PKGs are detected both as cytosolic and as structure-bound forms. Immunofluorescence labeling shows enrichment in the cell cortex, notably around the dense-core secretory vesicles (trichocysts), as well as in cilia. Immunogold electron microscopy analysis reveals consistent labeling of ciliary membranes, of the membrane complex composed of cell membrane and cortical Ca2+ stores, and of regions adjacent to ciliary basal bodies, trichocysts, and trafficking vesicles. Since PKGs (re)phosphorylate the exocytosis-sensitive phosphoprotein pp63/pf upon stimulation, the role of PKGs during stimulated exocytosis is discussed, in addition to a role in ciliary beat regulation. PMID:16400170

The Expansion and Functional Diversification of the Mammalian Ribonuclease A Superfamily Epitomizes the Efficiency of Multigene Families at Generating Biological Novelty

PubMed Central

Goo, Stephen M.; Cho, Soochin

2013-01-01

The ribonuclease (RNase) A superfamily is a vertebrate-specific gene family. Because of a massive expansion that occurred during the early mammalian evolution, extant mammals in general have much more RNase genes than nonmammalian vertebrates. Mammalian RNases have been associated with diverse physiological functions including digestion, cytotoxicity, angiogenesis, male reproduction, and host defense. However, it is still uncertain when their expansion occurred and how a wide array of functions arose during their evolution. To answer these questions, we generate a compendium of all RNase genes identified in 20 complete mammalian genomes including the platypus, Ornithorhynchus anatinus. Using this, we delineate 13 ancient RNase gene lineages that arose before the divergence between the monotreme and the other mammals (∼220 Ma). These 13 ancient gene lineages are differentially retained in the 20 mammals, and the rate of protein sequence evolution is highly variable among them, which suggest that they have undergone extensive functional diversification. In addition, we identify 22 episodes of recent expansion of RNase genes, many of which have signatures of adaptive functional differentiation. Exemplifying this, bursts of gene duplication occurred for the RNase1, RNase4, and RNase5 genes of the little brown bat (Myotis lucifugus), which might have contributed to the species’ effective defense against heavier pathogen loads caused by its communal roosting behavior. Our study illustrates how host-defense systems can generate new functions efficiently by employing a multigene family, which is crucial for a host organism to adapt to its ever-changing pathogen environment. PMID:24162010

Insurance Coverage Policies for Pharmacogenomic and Multi-Gene Testing for Cancer.

PubMed

Lu, Christine Y; Loomer, Stephanie; Ceccarelli, Rachel; Mazor, Kathleen M; Sabin, James; Clayton, Ellen Wright; Ginsburg, Geoffrey S; Wu, Ann Chen

2018-05-16

Insurance coverage policies are a major determinant of patient access to genomic tests. The objective of this study was to examine differences in coverage policies for guideline-recommended pharmacogenomic tests that inform cancer treatment. We analyzed coverage policies from eight Medicare contractors and 10 private payers for 23 biomarkers (e.g., HER2 and EGFR ) and multi-gene tests. We extracted policy coverage and criteria, prior authorization requirements, and an evidence basis for coverage. We reviewed professional society guidelines and their recommendations for use of pharmacogenomic tests. Coverage for KRAS , EGFR , and BRAF tests were common across Medicare contractors and private payers, but few policies covered PML/RARA , CD25 , or G6PD . Thirteen payers cover multi-gene tests for nonsmall lung cancer, citing emerging clinical recommendations. Coverage policies for single and multi-gene tests for cancer treatments are consistent among Medicare contractors despite the lack of national coverage determinations. In contrast, coverage for these tests varied across private payers. Patient access to tests is governed by prior authorization among eight private payers. Substantial variations in how payers address guideline-recommended pharmacogenomic tests and the common use of prior authorization underscore the need for additional studies of the effects of coverage variation on cancer care and patient outcomes.

Relationships among genera of the Saccharomycotina from multigene sequence analysis

USDA-ARS?s Scientific Manuscript database

Most known species of the subphylum Saccharomycotina (budding ascomycetous yeasts) have now been placed in phylogenetically defined clades following multigene sequence analysis. Terminal clades, which are usually well supported from bootstrap analysis, are viewed as phylogenetically circumscribed ge...

Multigen-2 Pre-Flight Testing: Science Testing Unit (STU) and Stowage Conditions

NASA Astrophysics Data System (ADS)

Kittang, A.-I.; Kvaloy, B.; Berg, C.; Rakvaag, G.; Iversen, T.-H.

2008-06-01

The Multigen-2 experiment Science Testing Unit (STU) proved to be a useful tool in optimizing experiment environment settings for cultivation of Arabidopsis thaliana (Col-0) in the European Modular Cultivation System (EMCS). By using the EMCS Experiment Reference Model (ERM); light, temperature and air flow regimes for optimal growth could be tested. Healthy seedlings were obtained using the STU#2 and STU#3 in the EMCS ERM. It was concluded that the Experiment Container Development Kit (ECDK) is unsuitable for the Multigen-2 testing due to limitation in the ECDK temperature control. The results from the stowage condition tests showed that the selected growth medium (agar) can be used after 3 months at +4°C. The seeds show a germination rate of ≥80% after sterilisation and stowed for 5 months. The Multigen-2 plant samples will be fixed in RNA later and stored at - 80 °C. Three methods with different RNA isolation kits showed that the Qiagen kit (#74904) gave the highest amount and the best quality of Total RNA from RNA Later and frozen samples. The amount of plant material from one cultivation chamber gives two RNA isolations. Each of the isolations gives Total RNA sufficient for at least two microarray analyses.

Allelic variations of α-gliadin genes from species of Aegilops section Sitopsis and insights into evolution of α-gliadin multigene family among Triticum and Aegilops.

PubMed

Huang, Zhuo; Long, Hai; Wei, Yu-Ming; Yan, Ze-Hong; Zheng, You-Liang

2016-04-01

The α-gliadins account for 15-30 % of the total storage protein in wheat endosperm and play important roles in the dough extensibility and nutritional quality. On the other side, they act as a main source of toxic peptides triggering celiac disease. In this study, 37 α-gliadins were isolated from three species of Aegilops section Sitopsis. Sequence similarity and phylogenetic analyses revealed novel allelic variation at Gli-2 loci of species of Sitopsis and regular organization of motifs in their repetitive domain. Based on the comprehensive analyses of a large number of known sequences of bread wheat and its diploid genome progenitors, the distributions of four T cell epitopes and length variations of two polyglutamine domains are analyzed. Additionally, according to the organization of repeat motifs, we classified the α-gliadins of Triticum and Aegilops into eight types. Their most recent common ancestor and putative divergence patterns were further considered. This study provides new insights into the allelic variations of α-gliadins in Aegilops section Sitopsis, as well as evolution of α-gliadin multigene family among Triticum and Aegilops species.

Driving south: a multi-gene phylogeny of the brown algal family Fucaceae reveals relationships and recent drivers of a marine radiation.

PubMed

Cánovas, Fernando G; Mota, Catarina F; Serrão, Ester A; Pearson, Gareth A

2011-12-21

Understanding the processes driving speciation in marine ecosystems remained a challenge until recently, due to the unclear nature of dispersal boundaries. However, recent evidence for marine adaptive radiations and ecological speciation, as well as previously undetected patterns of cryptic speciation is overturning this view. Here, we use multi-gene phylogenetics to infer the family-level evolutionary history of Fucaceae (intertidal brown algae of the northern Pacific and Atlantic) in order to investigate recent and unique patterns of radiative speciation in the genus Fucus in the Atlantic, in contrast with the mainly monospecific extant genera. We developed a set of markers from 13 protein coding genes based on polymorphic cDNA from EST libraries, which provided novel resolution allowing estimation of ancestral character states and a detailed reconstruction of the recent radiative history. Phylogenetic reconstructions yielded similar topologies and revealed four independent trans-Arctic colonization events by Fucaceae lineages, two of which also involved transitions from hermaphroditism to dioecy associated with Atlantic invasions. More recently, reversion of dioecious ancestral lineages towards hermaphroditism has occurred in the genus Fucus, particularly coinciding with colonization of more extreme habitats. Novel lineages in the genus Fucus were also revealed in association with southern habitats. These most recent speciation events occurred during the Pleistocene glaciations and coincided with a shift towards selfing mating systems, generally southward shifts in distribution, and invasion of novel habitats. Diversification of the family occurred in the Late-Mid Miocene, with at least four independent trans-Artic lineage crossings coincident with two reproductive mode transitions. The genus Fucus arose in the Pliocene but radiated within a relatively short time frame about 2.5 million years ago. Current species distributions of Fucus suggest that climatic

RBCS1A and RBCS3B, two major members within the Arabidopsis RBCS multigene family, function to yield sufficient Rubisco content for leaf photosynthetic capacity

PubMed Central

Tsunoda, Honami; Suzuki, Yuji; Makino, Amane; Ishida, Hiroyuki

2012-01-01

Ribulose 1,5-bisphosphate carboxylase/oxygenase (Rubisco) small subunit (RBCS) is encoded by a nuclear RBCS multigene family in many plant species. The contribution of the RBCS multigenes to accumulation of Rubisco holoenzyme and photosynthetic characteristics remains unclear. T-DNA insertion mutants of RBCS1A (rbcs1a-1) and RBCS3B (rbcs3b-1) were isolated among the four Arabidopsis RBCS genes, and a double mutant (rbcs1a3b-1) was generated. RBCS1A mRNA was not detected in rbcs1a-1 and rbcs1a3b-1, while the RBCS3B mRNA level was suppressed to ∼20% of the wild-type level in rbcs3b-1 and rbcs1a3b-1 leaves. As a result, total RBCS mRNA levels declined to 52, 79, and 23% of the wild-type level in rbcs1a-1, rbcs3b-1, and rbcs1a3b-1, respectively. Rubisco contents showed declines similar to total RBCS mRNA levels, and the ratio of Rubisco-nitrogen to total nitrogen was 62, 78, and 40% of the wild-type level in rbcs1a-1, rbcs3b-1, and rbcs1a3b-1, respectively. The effects of RBCS1A and RBCS3B mutations in rbcs1a3b-1 were clearly additive. The rates of CO2 assimilation at ambient CO2 of 40 Pa were reduced with decreased Rubisco contents in the respective mutant leaves. Although the RBCS composition in the Rubisco holoenzyme changed, the CO2 assimilation rates per unit of Rubisco content were the same irrespective of the genotype. These results clearly indicate that RBCS1A and RBCS3B contribute to accumulation of Rubisco in Arabidopsis leaves and that these genes work additively to yield sufficient Rubisco for photosynthetic capacity. It is also suggested that the RBCS composition in the Rubisco holoenzyme does not affect photosynthesis under the present ambient [CO2] conditions. PMID:22223809

RBCS1A and RBCS3B, two major members within the Arabidopsis RBCS multigene family, function to yield sufficient Rubisco content for leaf photosynthetic capacity.

PubMed

Izumi, Masanori; Tsunoda, Honami; Suzuki, Yuji; Makino, Amane; Ishida, Hiroyuki

2012-03-01

Ribulose 1,5-bisphosphate carboxylase/oxygenase (Rubisco) small subunit (RBCS) is encoded by a nuclear RBCS multigene family in many plant species. The contribution of the RBCS multigenes to accumulation of Rubisco holoenzyme and photosynthetic characteristics remains unclear. T-DNA insertion mutants of RBCS1A (rbcs1a-1) and RBCS3B (rbcs3b-1) were isolated among the four Arabidopsis RBCS genes, and a double mutant (rbcs1a3b-1) was generated. RBCS1A mRNA was not detected in rbcs1a-1 and rbcs1a3b-1, while the RBCS3B mRNA level was suppressed to ∼20% of the wild-type level in rbcs3b-1 and rbcs1a3b-1 leaves. As a result, total RBCS mRNA levels declined to 52, 79, and 23% of the wild-type level in rbcs1a-1, rbcs3b-1, and rbcs1a3b-1, respectively. Rubisco contents showed declines similar to total RBCS mRNA levels, and the ratio of Rubisco-nitrogen to total nitrogen was 62, 78, and 40% of the wild-type level in rbcs1a-1, rbcs3b-1, and rbcs1a3b-1, respectively. The effects of RBCS1A and RBCS3B mutations in rbcs1a3b-1 were clearly additive. The rates of CO(2) assimilation at ambient CO(2) of 40 Pa were reduced with decreased Rubisco contents in the respective mutant leaves. Although the RBCS composition in the Rubisco holoenzyme changed, the CO(2) assimilation rates per unit of Rubisco content were the same irrespective of the genotype. These results clearly indicate that RBCS1A and RBCS3B contribute to accumulation of Rubisco in Arabidopsis leaves and that these genes work additively to yield sufficient Rubisco for photosynthetic capacity. It is also suggested that the RBCS composition in the Rubisco holoenzyme does not affect photosynthesis under the present ambient [CO(2)] conditions.

The enzymes with benzil reductase activity conserved from bacteria to mammals.

PubMed

Maruyama, Reiji; Nishizawa, Mikio; Itoi, Yasushi; Ito, Seiji; Inoue, Masami

2002-03-28

The diketone compound, benzil is reduced to (S)-benzoin with living Bacillus cereus cells. Recently, we isolated a gene responsible for benzil reduction, and Escherichia coli cells in which this gene was overexpressed transformed benzil to (S)-benzoin. Although this benzil reductase showed high identity to the short-chain dehydrogenase/reductase (SDR) family, enzymological features were unknown. Here, we demonstrated that many B. cereus strains had benzil reductase activity in vivo, and that the benzil reductases shared 94-100% amino acid identities. Recombinant B. cereus benzil reductase produced optically pure (S)-benzoin with NADPH in vitro, and the ketone group distal to a benzene ring was asymmetrically reduced. B. cereus benzil reductase showed 31% amino acid identity to the yeast open reading frame YIR036C protein and 28-30% to mammalian sepiapterin reductases, sharing the seven residues consensus for the SDR family. We isolated the genes encoding yeast YIR036C protein and gerbil sepiapterin reductase, and both recombinant proteins also reduced benzil to (S)-benzoin in vitro. Green fluorescent protein-tagged B. cereus benzil reductase distributed in the bipolar cytoplasm in B. cereus cells. Asymmetric reduction with B. cereus benzil reductase, yeast YIR036C protein and gerbil sepiapterin reductase will be utilized to produce important chiral compounds.

Processing and population genetic analysis of multigenic datasets with ProSeq3 software.

PubMed

Filatov, Dmitry A

2009-12-01

The current tendency in molecular population genetics is to use increasing numbers of genes in the analysis. Here I describe a program for handling and population genetic analysis of DNA polymorphism data collected from multiple genes. The program includes a sequence/alignment editor and an internal relational database that simplify the preparation and manipulation of multigenic DNA polymorphism datasets. The most commonly used DNA polymorphism analyses are implemented in ProSeq3, facilitating population genetic analysis of large multigenic datasets. Extensive input/output options make ProSeq3 a convenient hub for sequence data processing and analysis. The program is available free of charge from http://dps.plants.ox.ac.uk/sequencing/proseq.htm.

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

PubMed

Lee, Cha Gon; Lee, Jeehun; Lee, Munhyang

2018-01-01

Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi-gene panel testing with next-generation sequencing. This study included patients with juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures alone. We identified pathogenic variants according to the American College of Medical Genetics and Genomics guidelines and identified susceptibility variants using case-control association analyses and family analyses for familial cases. A total of 57 patients were enrolled, including 51 sporadic cases and 6 familial cases. Twenty-two pathogenic and likely pathogenic variants of 16 different genes were identified. CACNA1H was the most frequently observed single gene. Variants of voltage-gated Ca2+ channel genes, including CACNA1A, CACNA1G, and CACNA1H were observed in 32% of variants (n = 7/22). Analyses to identify susceptibility variants using case-control association analysis indicated that KCNMA1 c.400G>C was associated with common genetic generalized epilepsy syndromes. Only 1 family (family A) exhibited a candidate pathogenic variant p.(Arg788His) on CACNA1H, as determined via family analyses. This study identified candidate genetic variants in about a quarter of patients (n = 16/57) and an average of 2.8 variants was identified in each patient. The results reinforced the polygenic disorder with very high locus and allelic heterogeneity of common GGE syndromes. Further, voltage-gated Ca2+ channels are suggested as important contributors to common genetic generalized epilepsy syndromes. This study extends our comprehensive understanding of common genetic generalized epilepsy syndromes.

Reiterative Recombination for the in vivo assembly of libraries of multigene pathways.

PubMed

Wingler, Laura M; Cornish, Virginia W

2011-09-13

The increasing sophistication of synthetic biology is creating a demand for robust, broadly accessible methodology for constructing multigene pathways inside of the cell. Due to the difficulty of rationally designing pathways that function as desired in vivo, there is a further need to assemble libraries of pathways in parallel, in order to facilitate the combinatorial optimization of performance. While some in vitro DNA assembly methods can theoretically make libraries of pathways, these techniques are resource intensive and inherently require additional techniques to move the DNA back into cells. All previously reported in vivo assembly techniques have been low yielding, generating only tens to hundreds of constructs at a time. Here, we develop "Reiterative Recombination," a robust method for building multigene pathways directly in the yeast chromosome. Due to its use of endonuclease-induced homologous recombination in conjunction with recyclable markers, Reiterative Recombination provides a highly efficient, technically simple strategy for sequentially assembling an indefinite number of DNA constructs at a defined locus. In this work, we describe the design and construction of the first Reiterative Recombination system in Saccharomyces cerevisiae, and we show that it can be used to assemble multigene constructs. We further demonstrate that Reiterative Recombination can construct large mock libraries of at least 10(4) biosynthetic pathways. We anticipate that our system's simplicity and high efficiency will make it a broadly accessible technology for pathway construction and render it a valuable tool for optimizing pathways in vivo.

Reiterative Recombination for the in vivo assembly of libraries of multigene pathways

PubMed Central

Wingler, Laura M.; Cornish, Virginia W.

2011-01-01

The increasing sophistication of synthetic biology is creating a demand for robust, broadly accessible methodology for constructing multigene pathways inside of the cell. Due to the difficulty of rationally designing pathways that function as desired in vivo, there is a further need to assemble libraries of pathways in parallel, in order to facilitate the combinatorial optimization of performance. While some in vitro DNA assembly methods can theoretically make libraries of pathways, these techniques are resource intensive and inherently require additional techniques to move the DNA back into cells. All previously reported in vivo assembly techniques have been low yielding, generating only tens to hundreds of constructs at a time. Here, we develop “Reiterative Recombination,” a robust method for building multigene pathways directly in the yeast chromosome. Due to its use of endonuclease-induced homologous recombination in conjunction with recyclable markers, Reiterative Recombination provides a highly efficient, technically simple strategy for sequentially assembling an indefinite number of DNA constructs at a defined locus. In this work, we describe the design and construction of the first Reiterative Recombination system in Saccharomyces cerevisiae, and we show that it can be used to assemble multigene constructs. We further demonstrate that Reiterative Recombination can construct large mock libraries of at least 104 biosynthetic pathways. We anticipate that our system’s simplicity and high efficiency will make it a broadly accessible technology for pathway construction and render it a valuable tool for optimizing pathways in vivo. PMID:21876185

Understanding of multigene test results among males undergoing germline testing for inherited prostate cancer: Implications for genetic counseling.

PubMed

Giri, Veda N; Obeid, Elias; Hegarty, Sarah E; Gross, Laura; Bealin, Lisa; Hyatt, Colette; Fang, Carolyn Y; Leader, Amy

2018-04-14

Genetic testing (GT) for prostate cancer (PCA) is rising, with limited insights regarding genetic counseling (GC) needs of males. Genetic Evaluation of Men (GEM) is a prospective multigene testing study for inherited PCA. Men undergoing GC were surveyed on knowledge of cancer risk and genetics (CRG) and understanding of personal GT results to identify GC needs. GEM participants with or high-risk for PCA were recruited. Pre-test GC was in-person, with video and handout, or via telehealth. Post-test disclosure was in-person, by phone, or via telehealth. Clinical and family history data were obtained from participant surveys and medical records. Participants completed measures of knowledge of CRG, literacy, and numeracy pre-test and post-test. Understanding of personal genetic results was assessed post-test. Factors associated with knowledge of CRG and understanding of personal genetic results were examined using multivariable linear regression or McNemar's test. Among 109 men who completed pre- and post-GT surveys, multivariable analysis revealed family history meeting hereditary cancer syndrome (HCS) criteria was significantly predictive of higher baseline knowledge (P = 0.040). Of 101 men who responded definitively regarding understanding of results, 13 incorrectly reported their result (McNemar's P < 0.001). Factors significantly associated with discordance between reported and actual results included having a variant of uncertain significance (VUS) (P < 0.001) and undergoing GC via pre-test video and post-test phone disclosure (P = 0.015). While meeting criteria for HCS was associated with higher knowledge of CRG, understanding of personal GT results was lacking among a subset of males with VUS. A more exploratory finding was lack of understanding of results among men who underwent GC utilizing video and phone. Studies optimizing GC strategies for males undergoing multigene testing for inherited PCA are warranted. © 2018 Wiley Periodicals, Inc.

Multigene assays and molecular markers in breast cancer: systematic review of health economic analyses.

PubMed

Rouzier, Roman; Pronzato, Paolo; Chéreau, Elisabeth; Carlson, Josh; Hunt, Barnaby; Valentine, William J

2013-06-01

Breast cancer is the most common female cancer and is associated with a significant clinical and economic burden. Multigene assays and molecular markers represent an opportunity to direct chemotherapy only to patients likely to have significant benefit. This systematic review examines published health economic analyses to assess the support for adjuvant therapy decision making. Literature searches of PubMed, the Cochrane Library, and congress databases were carried out to identify economic evaluations of multigene assays and molecular markers published between 2002 and 2012. After screening and data extraction, study quality was assessed using the Quality of Health Economic Studies instrument. The review identified 29 publications that reported evaluations of two assays: Oncotype DX(®) and MammaPrint. Studies of both tests provided evidence that their routine use was cost saving or cost-effective versus conventional approaches. Benefits were driven by optimal allocation of adjuvant chemotherapy and reduction in chemotherapy utilization. Findings were sensitive to variation in the frequency of chemotherapy prescription, chemotherapy costs, and patients' risk profiles. Evidence suggests that multigene assays are likely cost saving or cost-effective relative to current approaches to adjuvant therapy. They should benefit decision making in early-stage breast cancer in a variety of settings worldwide.

Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

PubMed

Howarth, Dt R; Lum, Sharon S; Esquivel, Pamela; Garberoglio, Carlos A; Senthil, Maheswari; Solomon, Naveenraj L

2015-10-01

Multigene panel testing for hereditary cancer risk has recently become commercially available; however, the impact of its use on patient care is undefined. We sought to evaluate results from implementation of panel testing in a multidisciplinary cancer center. We performed a retrospective review of consecutive patients undergoing genetic testing after initiating use of multigene panel testing at Loma Linda University Medical Center. From February 13 to August 25, 2014, 92 patients were referred for genetic testing based on National Comprehensive Cancer Network guidelines. Testing was completed in 90 patients. Overall, nine (10%) pathogenic mutations were identified: five BRCA1/2, and four in non-BRCA loci. Single-site testing identified one BRCA1 and one BRCA2 mutation. The remaining mutations were identified by use of panel testing for hereditary breast and ovarian cancer. There were 40 variants of uncertain significance identified in 34 patients. The use of panel testing more than doubled the identification rate of clinically significant pathogenic mutations that would have been missed with BRCA testing alone. The large number of variants of uncertain significance identified will require long-term follow-up for potential reclassification. Multigene panel testing provides additional information that may improve patient outcomes.

Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

PubMed

Frey, Melissa K; Sandler, Gabriella; Sobolev, Rachel; Kim, Sarah H; Chambers, Rachelle; Bassett, Rebecca Y; Martineau, Jessica; Sapra, Katherine J; Boyd, Leslie; Curtin, John P; Pothuri, Bhavana; Blank, Stephanie V

2017-07-01

To evaluate the results of multigene panel testing among Ashkenazi Jewish compared with non-Ashkenazi Jewish patients. We reviewed the medical records for all patients who underwent multigene panel testing and targeted BRCA1/2 testing at a single institution between 6/2013-1/2015. Clinical actionability for identified pathogenic mutations was characterized based on the National Comprehensive Cancer Network (NCCN) guidelines and consensus statements and expert opinion for genes not addressed by these guidelines. Four hundred and fifty-four patients underwent multigene panel screening, including 138 Ashkenazi Jewish patients. The median patient age was fifty-two years. Three hundred and fifty-four patients (78%) had a personal history of cancer. Two hundred and fifty-one patients had breast cancer, 49, ovarian cancer, 26, uterine cancer and 20, colorectal cancer. We identified 62 mutations in 56 patients and 291 variants of uncertain significance in 196 patients. Among the 56 patients with mutations, 51 (91%) had actionable mutations. Twenty mutations were identified by multigene panels among Ashkenazi Jewish patients, 18 of which were in genes other than BRCA1/2. A review of targeted BRCA1/2 testing performed over the same study period included 103 patients and identified six mutations in BRCA1/2, all of which occurred in Ashkenazi Jewish patients. Among all Ashkenazi Jewish patients undergoing genetic testing, 25/183 (14%) had a mutation, 24/25 of which were actionable (96%) and 17/25 patients (68%) had mutations in non BRCA1/2 genes. With the rapid acceptance of multigene panels there is a pressing need to understand how this testing will affect patient management. While traditionally many Ashkenazi Jewish patients have undergone targeted BRCA1/2 testing, our data suggest consideration of multigene panels in this population as the majority of the results are clinically actionable and often in genes other than BRCA1/2. Copyright © 2017 Elsevier Inc. All rights

Primary structure of rat cardiac beta-adrenergic and muscarinic cholinergic receptors obtained by automated DNA sequence analysis: further evidence for a multigene family.

PubMed Central

Gocayne, J; Robinson, D A; FitzGerald, M G; Chung, F Z; Kerlavage, A R; Lentes, K U; Lai, J; Wang, C D; Fraser, C M; Venter, J C

1987-01-01

Two cDNA clones, lambda RHM-MF and lambda RHB-DAR, encoding the muscarinic cholinergic receptor and the beta-adrenergic receptor, respectively, have been isolated from a rat heart cDNA library. The cDNA clones were characterized by restriction mapping and automated DNA sequence analysis utilizing fluorescent dye primers. The rat heart muscarinic receptor consists of 466 amino acids and has a calculated molecular weight of 51,543. The rat heart beta-adrenergic receptor consists of 418 amino acids and has a calculated molecular weight of 46,890. The two cardiac receptors have substantial amino acid homology (27.2% identity, 50.6% with favored substitutions). The rat cardiac beta receptor has 88.0% homology (92.5% with favored substitutions) with the human brain beta receptor and the rat cardiac muscarinic receptor has 94.6% homology (97.6% with favored substitutions) with the porcine cardiac muscarinic receptor. The muscarinic cholinergic and beta-adrenergic receptors appear to be as conserved as hemoglobin and cytochrome c but less conserved than histones and are clearly members of a multigene family. These data support our hypothesis, based upon biochemical and immunological evidence, that suggests considerable structural homology and evolutionary conservation between adrenergic and muscarinic cholinergic receptors. To our knowledge, this is the first report utilizing automated DNA sequence analysis to determine the structure of a gene. Images PMID:2825184

Primary structure of rat cardiac beta-adrenergic and muscarinic cholinergic receptors obtained by automated DNA sequence analysis: further evidence for a multigene family.

PubMed

Gocayne, J; Robinson, D A; FitzGerald, M G; Chung, F Z; Kerlavage, A R; Lentes, K U; Lai, J; Wang, C D; Fraser, C M; Venter, J C

1987-12-01

Two cDNA clones, lambda RHM-MF and lambda RHB-DAR, encoding the muscarinic cholinergic receptor and the beta-adrenergic receptor, respectively, have been isolated from a rat heart cDNA library. The cDNA clones were characterized by restriction mapping and automated DNA sequence analysis utilizing fluorescent dye primers. The rat heart muscarinic receptor consists of 466 amino acids and has a calculated molecular weight of 51,543. The rat heart beta-adrenergic receptor consists of 418 amino acids and has a calculated molecular weight of 46,890. The two cardiac receptors have substantial amino acid homology (27.2% identity, 50.6% with favored substitutions). The rat cardiac beta receptor has 88.0% homology (92.5% with favored substitutions) with the human brain beta receptor and the rat cardiac muscarinic receptor has 94.6% homology (97.6% with favored substitutions) with the porcine cardiac muscarinic receptor. The muscarinic cholinergic and beta-adrenergic receptors appear to be as conserved as hemoglobin and cytochrome c but less conserved than histones and are clearly members of a multigene family. These data support our hypothesis, based upon biochemical and immunological evidence, that suggests considerable structural homology and evolutionary conservation between adrenergic and muscarinic cholinergic receptors. To our knowledge, this is the first report utilizing automated DNA sequence analysis to determine the structure of a gene.

From High-Throughput Microarray-Based Screening to Clinical Application: The Development of a Second Generation Multigene Test for Breast Cancer Prognosis

PubMed Central

Brase, Jan C.; Kronenwett, Ralf; Petry, Christoph; Denkert, Carsten; Schmidt, Marcus

2013-01-01

Several multigene tests have been developed for breast cancer patients to predict the individual risk of recurrence. Most of the first generation tests rely on proliferation-associated genes and are commonly carried out in central reference laboratories. Here, we describe the development of a second generation multigene assay, the EndoPredict test, a prognostic multigene expression test for estrogen receptor (ER) positive, human epidermal growth factor receptor (HER2) negative (ER+/HER2−) breast cancer patients. The EndoPredict gene signature was initially established in a large high-throughput microarray-based screening study. The key steps for biomarker identification are discussed in detail, in comparison to the establishment of other multigene signatures. After biomarker selection, genes and algorithms were transferred to a diagnostic platform (reverse transcription quantitative PCR (RT-qPCR)) to allow for assaying formalin-fixed, paraffin-embedded (FFPE) samples. A comprehensive analytical validation was performed and a prospective proficiency testing study with seven pathological laboratories finally proved that EndoPredict can be reliably used in the decentralized setting. Three independent large clinical validation studies (n = 2,257) demonstrated that EndoPredict offers independent prognostic information beyond current clinicopathological parameters and clinical guidelines. The review article summarizes several important steps that should be considered for the development process of a second generation multigene test and offers a means for transferring a microarray signature from the research laboratory to clinical practice. PMID:27605191

The multigene family of lysophosphatidate acyltransferase (LPAT)-related enzymes in Ricinus communis: cloning and molecular characterization of two LPAT genes that are expressed in castor seeds.

PubMed

Arroyo-Caro, José María; Chileh, Tarik; Kazachkov, Michael; Zou, Jitao; Alonso, Diego López; García-Maroto, Federico

2013-02-01

The multigene family encoding proteins related to lysophosphatidyl-acyltransferases (LPATs) has been analyzed in the castor plant Ricinus communis. Among them, two genes designated RcLPAT2 and RcLPATB, encoding proteins with LPAT activity and expressed in the developing seed, have been cloned and characterized in some detail. RcLPAT2 groups with well characterized members of the so-called A-class LPATs and it shows a generalized expression pattern in the plant and along seed development. Enzymatic assays of RcLPAT2 indicate a preference for ricinoleoyl-CoA over other fatty acid thioesters when ricinoleoyl-LPA is used as the acyl acceptor, while oleoyl-CoA is the preferred substrate when oleoyl-LPA is employed. RcLPATB groups with B-class LPAT enzymes described as seed specific and selective for unusual fatty acids. However, RcLPATB exhibit a broad specificity on the acyl-CoAs, with saturated fatty acids (12:0-16:0) being the preferred substrates. RcLPATB is upregulated coinciding with seed triacylglycerol accumulation, but its expression is not restricted to the seed. These results are discussed in the light of a possible role for LPAT isoenzymes in the channelling of ricinoleic acid into castor bean triacylglycerol. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

PubMed

Li, Yonghong; Arellano, Andre R; Bare, Lance A; Bender, Richard A; Strom, Charles M; Devlin, James J

2017-04-01

The National Comprehensive Cancer Network recommends that women who carry gene variants that confer substantial risk for breast cancer consider risk-reduction strategies, that is, enhanced surveillance (breast magnetic resonance imaging and mammography) or prophylactic surgery. Pathogenic variants can be detected in women with a family history of breast or ovarian cancer syndromes by multigene panel testing. To investigate whether using a seven-gene test to identify women who should consider risk-reduction strategies could cost-effectively increase life expectancy. We estimated effectiveness and lifetime costs from a payer perspective for two strategies in two hypothetical cohorts of women (40-year-old and 50-year-old cohorts) who meet the National Comprehensive Cancer Network-defined family history criteria for multigene testing. The two strategies were the usual test strategy for variants in BRCA1 and BRCA2 and the seven-gene test strategy for variants in BRCA1, BRCA2, TP53, PTEN, CDH1, STK11, and PALB2. Women found to have a pathogenic variant were assumed to undergo either prophylactic surgery or enhanced surveillance. The incremental cost-effectiveness ratio for the seven-gene test strategy compared with the BRCA1/2 test strategy was $42,067 per life-year gained or $69,920 per quality-adjusted life-year gained for the 50-year-old cohort and $23,734 per life-year gained or $48,328 per quality-adjusted life-year gained for the 40-year-old cohort. In probabilistic sensitivity analysis, the seven-gene test strategy cost less than $100,000 per life-year gained in 95.7% of the trials for the 50-year-old cohort. Testing seven breast cancer-associated genes, followed by risk-reduction management, could cost-effectively improve life expectancy for women at risk of hereditary breast cancer. Copyright © 2017 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

Rapid evolutionary dynamics in a 2.8-Mb chromosomal region containing multiple prolamin and resistance gene families in Aegilops tauschii

USDA-ARS?s Scientific Manuscript database

The prolamin (seed storage proteins high in glutamine and proline) and resistance gene families are important in domesticated bread wheat (Triticum aestivum) food uses and in defense against pathogen attacks, respectively. To better understand the evolution of these multi-gene families, the DNA se...

Long-range looping of a locus control region drives tissue-specific chromatin packing within a multigene cluster

PubMed Central

Tsai, Yu-Cheng; Cooke, Nancy E.; Liebhaber, Stephen A.

2016-01-01

Abstract The relationships of higher order chromatin organization to mammalian gene expression remain incompletely defined. The human Growth Hormone (hGH) multigene cluster contains five gene paralogs. These genes are selectively activated in either the pituitary or the placenta by distinct components of a remote locus control region (LCR). Prior studies have revealed that appropriate activation of the placental genes is dependent not only on the actions of the LCR, but also on the multigene composition of the cluster itself. Here, we demonstrate that the hGH LCR ‘loops’ over a distance of 28 kb in primary placental nuclei to make specific contacts with the promoters of the two GH genes in the cluster. This long-range interaction sequesters the GH genes from the three hCS genes which co-assemble into a tightly packed ‘hCS chromatin hub’. Elimination of the long-range looping, via specific deletion of the placental LCR components, triggers a dramatic disruption of the hCS chromatin hub. These data reveal a higher-order structural pathway by which long-range looping from an LCR impacts on local chromatin architecture that is linked to tissue-specific gene regulation within a multigene cluster. PMID:26893355

Long genes and genes with multiple splice variants are enriched in pathways linked to cancer and other multigenic diseases.

PubMed

Sahakyan, Aleksandr B; Balasubramanian, Shankar

2016-03-12

The role of random mutations and genetic errors in defining the etiology of cancer and other multigenic diseases has recently received much attention. With the view that complex genes should be particularly vulnerable to such events, here we explore the link between the simple properties of the human genes, such as transcript length, number of splice variants, exon/intron composition, and their involvement in the pathways linked to cancer and other multigenic diseases. We reveal a substantial enrichment of cancer pathways with long genes and genes that have multiple splice variants. Although the latter two factors are interdependent, we show that the overall gene length and splicing complexity increase in cancer pathways in a partially decoupled manner. Our systematic survey for the pathways enriched with top lengthy genes and with genes that have multiple splice variants reveal, along with cancer pathways, the pathways involved in various neuronal processes, cardiomyopathies and type II diabetes. We outline a correlation between the gene length and the number of somatic mutations. Our work is a step forward in the assessment of the role of simple gene characteristics in cancer and a wider range of multigenic diseases. We demonstrate a significant accumulation of long genes and genes with multiple splice variants in pathways of multigenic diseases that have already been associated with de novo mutations. Unlike the cancer pathways, we note that the pathways of neuronal processes, cardiomyopathies and type II diabetes contain genes long enough for topoisomerase-dependent gene expression to also be a potential contributing factor in the emergence of pathologies, should topoisomerases become impaired.

Identification and characterization of a new multigene family in the human MHC: A candidate autoimmune disease susceptibility element (3.8-1)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Harris, J.M.; Venditti, C.P.; Chorney, M.J.

1994-09-01

An association between idiopathic hemochromatosis (HFE) and the HLA-A3 locus has been previously well-established. In an attempt to identify potential HFE candidate genes, a genomic DNA fragment distal to the HLA-A9 breakpoint was used to screen a B cell cDNA library; a member (3.8-1) of a new multigene family, composed of five distinct genomic cross-reactive fragments, was identified. Clone 3.8-1 represents the 3{prime} end of 9.6 kb transcript which is expressed in multiple tissues including the spleen, thymus, lung and kidney. Sequencing and genome database analysis indicate that 3.8-1 is unique, with no homology to any known entries. The genomicmore » residence of 3-8.1, defined by polymorphism analysis and physical mapping using YAC clones, appears to be absent from the genomes of higher primates, although four other cross-reactivities are maintained. The absence of this gene as well as other probes which map in the TNF to HLA-B interval, suggest that this portion of the human HMC, located between the Class I and Class III regions, arose in humans as the result of a post-speciation insertional event. The large size of the 3.8-1 gene and the possible categorization of 3.8-1 as a human-specific gene are significant given the genetic data that place an autoimmune susceptibility element for IDDM and myasthenia gravis in the precise region where this gene resides. In an attempt to isolate the 5{prime} end of this large transcript, we have constructed a cosmid contig which encompasses the genomic locus of this gene and are progressively isolating coding sequences by exon trapping.« less

Multigene Expression In Vivo: Supremacy of Large Versus Small Terminators for T7 RNA Polymerase

PubMed Central

Du, Liping; Villarreal, Seth; Forster, Anthony C.

2012-01-01

Designing and building multigene constructs is commonplace in synthetic biology. Yet functional successes at first attempts are rare because the genetic parts are not fully modular. In order to improve the modularity of transcription, we previously showed that transcription termination in vitro by bacteriophage T7 RNA polymerase could be made more efficient by substituting the standard, single, TΦ large (class I) terminator with adjacent copies of the Vesicular Stomatitis Virus (VSV) small (class II) terminator. However, in vitro termination at the downstream VSV terminator was less efficient than at the upstream VSV terminator, and multigene overexpression in vivo was complicated by unexpectedly inefficient VSV termination within E. coli cells. Here, we address hypotheses raised in that study by showing that VSV or preproparathyroid hormone (PTH) small terminators spaced further apart can work independently (i.e. more efficiently) in vitro, and that VSV and PTH terminations are severely inhibited in vivo. Surprisingly, the difference between class II terminator function in vivo versus in vitro is not due to differences in plasmid supercoiling, as supercoiling had a minimal effect on termination in vitro. We therefore turned to TΦ terminators for “BioBrick” synthesis of a pentameric gene construct suitable for overexpression in vivo. This indeed enabled coordinated overexpression and copurification of five His-tagged proteins using the first construct attempted, indicating that this strategy is more modular than other strategies. An application of this multigene overexpression and protein copurification method is demonstrated by supplying five of the six E. coli translation factors required for reconstitution of translation from a single cell line via copurification, greatly simplifying the reconstitution. PMID:22094962

Multi-functional acetyl-CoA carboxylase from Brassica napus is encoded by a multi-gene family: indication for plastidic localization of at least one isoform.

PubMed

Schulte, W; Töpfer, R; Stracke, R; Schell, J; Martini, N

1997-04-01

Three genes coding for different multifunctional acetyl-CoA carboxylase (ACCase; EC 6.4.1.2) isoenzymes from Brassica napus were isolated and divided into two major classes according to structural features in their 5' regions: class I comprises two genes with an additional coding exon of approximately 300 bp at the 5' end, and class II is represented by one gene carrying an intron of 586 bp in its 5' untranslated region. Fusion of the peptide sequence encoded by the additional first exon of a class I ACCase gene to the jellyfish Aequorea victoria green fluorescent protein (GFP) and transient expression in tobacco protoplasts targeted GFP to the chloroplasts. In contrast to the deduced primary structure of the biotin carboxylase domain encoded by the class I gene, the corresponding amino acid sequence of the class II ACCase shows higher identity with that of the Arabidopsis ACCase, both lacking a transit peptide. The Arabidopsis ACCase has been proposed to be a cytosolic isoenzyme. These observations indicate that the two classes of ACCase genes encode plastidic and cytosolic isoforms of multi-functional, eukaryotic type, respectively, and that B. napus contains at least one multi-functional ACCase besides the multi-subunit, prokaryotic type located in plastids. Southern blot analysis of genomic DNA from B. napus, Brassica rapa, and Brassica oleracea, the ancestors of amphidiploid rapeseed, using a fragment of a multi-functional ACCase gene as a probe revealed that ACCase is encoded by a multi-gene family of at least five members.

The experimental study of genetic engineering human neural stem cells mediated by lentivirus to express multigene.

PubMed

Cai, Pei-qiang; Tang, Xun; Lin, Yue-qiu; Martin, Oudega; Sun, Guang-yun; Xu, Lin; Yang, Yun-kang; Zhou, Tian-hua

2006-02-01

To explore the feasibility to construct genetic engineering human neural stem cells (hNSCs) mediated by lentivirus to express multigene in order to provide a graft source for further studies of spinal cord injury (SCI). Human neural stem cells from the brain cortex of human abortus were isolated and cultured, then gene was modified by lentivirus to express both green fluorescence protein (GFP) and rat neurotrophin-3 (NT-3); the transgenic expression was detected by the methods of fluorescence microscope, dorsal root ganglion of fetal rats and slot blot. Genetic engineering hNSCs were successfully constructed. All of the genetic engineering hNSCs which expressed bright green fluorescence were observed under the fluorescence microscope. The conditioned medium of transgenic hNSCs could induce neurite flourishing outgrowth from dorsal root ganglion (DRG). The genetic engineering hNSCs expressed high level NT-3 which could be detected by using slot blot. Genetic engineering hNSCs mediated by lentivirus can be constructed to express multigene successfully.

Integrated multigene expression panel to prognosticate patients with gastric cancer.

PubMed

Kanda, Mitsuro; Murotani, Kenta; Tanaka, Haruyoshi; Miwa, Takashi; Umeda, Shinichi; Tanaka, Chie; Kobayashi, Daisuke; Hayashi, Masamichi; Hattori, Norifumi; Suenaga, Masaya; Yamada, Suguru; Nakayama, Goro; Fujiwara, Michitaka; Kodera, Yasuhiro

2018-04-10

Most of the proposed individual markers had limited clinical utility due to the inherent biological and genetic heterogeneity of gastric cancer. We aimed to build a new molecular-based model to predict prognosis in patients with gastric cancer. A total of 200 patients who underwent gastric resection for gastric cancer were divided into learning and validation cohorts using a table of random numbers in a 1:1 ratio. In the learning cohort, mRNA expression levels of 15 molecular markers in gastric tissues were analyzed and concordance index (C-index) values of all single and combinations of the 15 candidate markers for overall survival were calculated. The multigene expression panel was designed according to C-index values and the subpopulation index. Expression scores were determined with weighting according to the coefficient of each constituent. The reproducibility of the panel was evaluated in the validation cohort. C-index values of the 15 single candidate markers ranged from 0.506-0.653. Among 32,767 combinations, the optimal and balanced expression panel comprised four constituents ( MAGED2, SYT8, BTG1 , and FAM46 ) and the C-index value was 0.793. Using this panel, patients were provisionally categorized with scores of 1-3, and clearly stratified into favorable, intermediate, and poor overall survival groups. In the validation cohort, both overall and disease-free survival rates decreased incrementally with increasing expression scores. Multivariate analysis revealed that the expression score was an independent prognostic factor for overall survival after curative gastrectomy. We developed an integrated multigene expression panel that simply and accurately stratified risk of patients with gastric cancer.

Multi-gene genetic programming based predictive models for municipal solid waste gasification in a fluidized bed gasifier.

PubMed

Pandey, Daya Shankar; Pan, Indranil; Das, Saptarshi; Leahy, James J; Kwapinski, Witold

2015-03-01

A multi-gene genetic programming technique is proposed as a new method to predict syngas yield production and the lower heating value for municipal solid waste gasification in a fluidized bed gasifier. The study shows that the predicted outputs of the municipal solid waste gasification process are in good agreement with the experimental dataset and also generalise well to validation (untrained) data. Published experimental datasets are used for model training and validation purposes. The results show the effectiveness of the genetic programming technique for solving complex nonlinear regression problems. The multi-gene genetic programming are also compared with a single-gene genetic programming model to show the relative merits and demerits of the technique. This study demonstrates that the genetic programming based data-driven modelling strategy can be a good candidate for developing models for other types of fuels as well. Copyright © 2014 Elsevier Ltd. All rights reserved.

Efficient computation of the phylogenetic likelihood function on multi-gene alignments and multi-core architectures.

PubMed

Stamatakis, Alexandros; Ott, Michael

2008-12-27

The continuous accumulation of sequence data, for example, due to novel wet-laboratory techniques such as pyrosequencing, coupled with the increasing popularity of multi-gene phylogenies and emerging multi-core processor architectures that face problems of cache congestion, poses new challenges with respect to the efficient computation of the phylogenetic maximum-likelihood (ML) function. Here, we propose two approaches that can significantly speed up likelihood computations that typically represent over 95 per cent of the computational effort conducted by current ML or Bayesian inference programs. Initially, we present a method and an appropriate data structure to efficiently compute the likelihood score on 'gappy' multi-gene alignments. By 'gappy' we denote sampling-induced gaps owing to missing sequences in individual genes (partitions), i.e. not real alignment gaps. A first proof-of-concept implementation in RAXML indicates that this approach can accelerate inferences on large and gappy alignments by approximately one order of magnitude. Moreover, we present insights and initial performance results on multi-core architectures obtained during the transition from an OpenMP-based to a Pthreads-based fine-grained parallelization of the ML function.

Whole-genome association studies for multigenic diseases: ethical dilemmas arising from commercialization--the case of genetic testing for autism.

PubMed

Jordan, Bertrand R; Tsai, Daniel Fu Chang

2010-07-01

This paper examines some ethical issues arising from whole-genome association studies for multigenic diseases, focusing on the case of autism. Events occurring following the announcement of a genetic test for autism in France (2005-2009) are described to exemplify the ethical controversies that can arise when genetic testing for autism is applied prematurely and inappropriately promoted by biotech companies. The authors argue that genetic tests assessing one or a few genes involved in highly multigenic disorders can only be useful if: (1) the genetic linkage found in the scientific study must be statistically convincing, reproducible and also applicable to the population to which the individual considered belongs (scientific validity); (2) the relative risk conferred by the 'high-risk' allele should be high enough to be significant to the patient (significant impact); (3) use of the test should lead to some improvement of outcome for the patient, resulting from adapted treatment if available, or at least from adjustment of lifestyle (or life goals) prompted by the new knowledge generated (clinical utility). Decisions concerning genetic testing for autism involve scientific judgement, value judgement and good knowledge of a constantly evolving therapeutic environment. The implementation of genetic tests for highly multigenic diseases thus requires strong mechanisms to ensure that they are used in a fashion that can benefit patients, and these mechanisms must be able to cope with rapid progress in scientific knowledge and therapeutic intervention.

Characterization of the low-molecular-weight glutenin subunit gene family members using a PCR-based marker approach

USDA-ARS?s Scientific Manuscript database

Low-molecular-weight glutenin subunits (LMW-GS) are a class of seed storage proteins that play a major role in the determination of the processing quality of wheat flour. The LMW-GS are encoded by multi-gene families located on the short arms of the homoeologous group 1 chromosomes, at the Glu-A3, G...

The dynamic evolutionary history of the bananaquit (Coereba flaveola) in the Caribbean revealed by a multigene analysis

PubMed Central

2008-01-01

Background The bananaquit (Coereba flaveola) is a small nectivorous and frugivorous emberizine bird (order Passeriformes) that is an abundant resident throughout the Caribbean region. We used multi-gene analyses to investigate the evolutionary history of this species throughout its distribution in the West Indies and in South and Middle America. We sequenced six mitochondrial genes (3744 base pairs) and three nuclear genes (2049 base pairs) for forty-four bananaquits and three outgroup species. We infer the ancestral area of the present-day bananaquit populations, report on the species' phylogenetic, biogeographic and evolutionary history, and propose scenarios for its diversification and range expansion. Results Phylogenetic concordance between mitochondrial and nuclear genes at the base of the bananaquit phylogeny supported a West Indian origin for continental populations. Multi-gene analysis showing genetic remnants of successive colonization events in the Lesser Antilles reinforced earlier research demonstrating that bananaquits alternate periods of invasiveness and colonization with biogeographic quiescence. Although nuclear genes provided insufficient information at the tips of the tree to further evaluate relationships of closely allied but strongly supported mitochondrial DNA clades, the discrepancy between mitochondrial and nuclear data in the population of Dominican Republic suggested that the mitochondrial genome was recently acquired by introgression from Jamaica. Conclusion This study represents one of the most complete phylogeographic analyses of its kind and reveals three patterns that are not commonly appreciated in birds: (1) island to mainland colonization, (2) multiple expansion phases, and (3) mitochondrial genome replacement. The detail revealed by this analysis will guide evolutionary analyses of populations in archipelagos such as the West Indies, which include islands varying in size, age, and geological history. Our results suggest that

A Pareto-optimal moving average multigene genetic programming model for daily streamflow prediction

NASA Astrophysics Data System (ADS)

Danandeh Mehr, Ali; Kahya, Ercan

2017-06-01

Genetic programming (GP) is able to systematically explore alternative model structures of different accuracy and complexity from observed input and output data. The effectiveness of GP in hydrological system identification has been recognized in recent studies. However, selecting a parsimonious (accurate and simple) model from such alternatives still remains a question. This paper proposes a Pareto-optimal moving average multigene genetic programming (MA-MGGP) approach to develop a parsimonious model for single-station streamflow prediction. The three main components of the approach that take us from observed data to a validated model are: (1) data pre-processing, (2) system identification and (3) system simplification. The data pre-processing ingredient uses a simple moving average filter to diminish the lagged prediction effect of stand-alone data-driven models. The multigene ingredient of the model tends to identify the underlying nonlinear system with expressions simpler than classical monolithic GP and, eventually simplification component exploits Pareto front plot to select a parsimonious model through an interactive complexity-efficiency trade-off. The approach was tested using the daily streamflow records from a station on Senoz Stream, Turkey. Comparing to the efficiency results of stand-alone GP, MGGP, and conventional multi linear regression prediction models as benchmarks, the proposed Pareto-optimal MA-MGGP model put forward a parsimonious solution, which has a noteworthy importance of being applied in practice. In addition, the approach allows the user to enter human insight into the problem to examine evolved models and pick the best performing programs out for further analysis.

Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.

PubMed

West, Allison H; Blazer, Kathleen R; Stoll, Jessica; Jones, Matthew; Weipert, Caroline M; Nielsen, Sarah M; Kupfer, Sonia S; Weitzel, Jeffrey N; Olopade, Olufunmilayo I

2018-02-14

Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows testing of well-defined high-risk genes, as well as moderate-risk genes, for which the penetrance and spectrum of cancer risk are less well characterized. Moderate-risk genes are defined as genes that, when altered by a pathogenic variant, confer a 2 to fivefold relative risk of cancer. Two such genes included on many comprehensive cancer panels are the DNA repair genes ATM and CHEK2, best known for moderately increased risk of breast cancer development. However, the impact of screening and preventative interventions and spectrum of cancer risk beyond breast cancer associated with ATM and/or CHEK2 variants remain less well characterized. We convened a large, multidisciplinary, cross-sectional panel of GCRA clinicians to review challenging, peer-submitted cases of patients identified with ATM or CHEK2 variants. This paper summarizes the inter-professional case discussion and recommendations generated during the session, the level of concordance with respect to recommendations between the academic and community clinician participants for each case, and potential barriers to implementing recommended care in various practice settings.

Definition of the low molecular weight glutenin subunit gene family members in a set of standard bread wheat (Triticum aestivum L.) varieties

USDA-ARS?s Scientific Manuscript database

Low-molecular-weight glutenin subunits (LMW-GS) are a class of seed storage proteins that play a major role in the determination of the viscoelastic properties of wheat dough. Most of the LMW-GSs are encoded by a multi-gene family located on the short arms of the homoeologous group 1 chromosomes, at...

The family structure of the Mucorales: a synoptic revision based on comprehensive multigene-genealogies.

PubMed

Hoffmann, K; Pawłowska, J; Walther, G; Wrzosek, M; de Hoog, G S; Benny, G L; Kirk, P M; Voigt, K

2013-06-01

The Mucorales (Mucoromycotina) are one of the most ancient groups of fungi comprising ubiquitous, mostly saprotrophic organisms. The first comprehensive molecular studies 11 yr ago revealed the traditional classification scheme, mainly based on morphology, as highly artificial. Since then only single clades have been investigated in detail but a robust classification of the higher levels based on DNA data has not been published yet. Therefore we provide a classification based on a phylogenetic analysis of four molecular markers including the large and the small subunit of the ribosomal DNA, the partial actin gene and the partial gene for the translation elongation factor 1-alpha. The dataset comprises 201 isolates in 103 species and represents about one half of the currently accepted species in this order. Previous family concepts are reviewed and the family structure inferred from the multilocus phylogeny is introduced and discussed. Main differences between the current classification and preceding concepts affects the existing families Lichtheimiaceae and Cunninghamellaceae, as well as the genera Backusella and Lentamyces which recently obtained the status of families along with the Rhizopodaceae comprising Rhizopus, Sporodiniella and Syzygites. Compensatory base change analyses in the Lichtheimiaceae confirmed the lower level classification of Lichtheimia and Rhizomucor while genera such as Circinella or Syncephalastrum completely lacked compensatory base changes.

Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.

PubMed

Elsayegh, Nisreen; Webster, Rachel D; Gutierrez Barrera, Angelica M; Lin, Heather; Kuerer, Henry M; Litton, Jennifer K; Bedrosian, Isabelle; Arun, Banu K

2018-05-07

Although multigene panel testing is increasingly common in patients with cancer, the relationship between its use among breast cancer patients with non-BRCA mutations or variants of uncertain significance (VUS) and disease management decisions has not been well described. This study evaluated the rate and predictive factors of CPM patients who underwent multigene panel testing. Three hundred and fourteen patients with breast cancer who underwent multigene panel testing between 2014 and 2017 were included in the analysis. Of the 314 patients, 70 elected CPM. Election of CPM by gene status was as follows: BRCA carriers (42.3%), non-BRCA carriers (30.1%), and VUS (10.6%). CPM election rates did not differ between non-BRCA carriers and BRCA carriers (P = 0.6205). Among non-BRCA carriers, negative hormone receptor status was associated with CPM (P = 0.0115). For those with a VUS, hormone receptor status was not associated with CPM (P = 0.1879). Although the rate of CPM between BRCA carriers and non-BRCA carriers was not significantly different, the predictors of CPM were different in each group. Our analyses shed the light on the increasing use of CPM among patients who are non-BRCA carriers as well those with a VUS. Our study elucidates the differing predictive factors of CPM election among BRCA carriers, non-BRCA carries, and those with a VUS. Our findings reveal the need for providers to be cognizant that non-BRCA genes and VUS drive women to elect CPM despite the lack of data for contralateral breast cancer risk associated with these genes. © 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

Genome-wide analysis of SINA family in plants and their phylogenetic relationships.

PubMed

Wang, Meng; Jin, Ying; Fu, Junjie; Zhu, Yun; Zheng, Jun; Hu, Jian; Wang, Guoying

2008-06-01

SINA genes in plants are part of a multigene family with 5 members in Arabidopsis thaliana, 10 members in Populus trichocarpa, 6 members in Oryza sativa, at least 6 members in Zea mays and at least 1 member in Physcomitrella patens. Six members in maize were confirmed by RT-PCR. All SINAs have one RING domain and one SINA domain. These two domains are highly conserved in plants. According to the motif organization and phylogenetic tree, SINA family members were divided into 2 groups. In addition, through semi-quantitative RT-PCR analysis of maize members and Digital Northern analysis of Arabidopsis and rice members, we found that the tissue expression patterns are more diverse in monocot than in Arabidopsis.

Genetic Diversity and Differentiation of Colletotrichum spp. Isolates Associated with Leguminosae Using Multigene Loci, RAPD and ISSR

PubMed Central

Mahmodi, Farshid; Kadir, J. B.; Puteh, A.; Pourdad, S. S.; Nasehi, A.; Soleimani, N.

2014-01-01

Genetic diversity and differentiation of 50 Colletotrichum spp. isolates from legume crops studied through multigene loci, RAPD and ISSR analysis. DNA sequence comparisons by six genes (ITS, ACT, Tub2, CHS-1, GAPDH, and HIS3) verified species identity of C. truncatum, C. dematium and C. gloeosporiodes and identity C. capsici as a synonym of C. truncatum. Based on the matrix distance analysis of multigene sequences, the Colletotrichum species showed diverse degrees of intera and interspecific divergence (0.0 to 1.4%) and (15.5–19.9), respectively. A multilocus molecular phylogenetic analysis clustered Colletotrichum spp. isolates into 3 well-defined clades, representing three distinct species; C. truncatum, C. dematium and C. gloeosporioides. The ISSR and RAPD and cluster analysis exhibited a high degree of variability among different isolates and permitted the grouping of isolates of Colletotrichum spp. into three distinct clusters. Distinct populations of Colletotrichum spp. isolates were genetically in accordance with host specificity and inconsistent with geographical origins. The large population of C. truncatum showed greater amounts of genetic diversity than smaller populations of C. dematium and C. gloeosporioides species. Results of ISSR and RAPD markers were congruent, but the effective maker ratio and the number of private alleles were greater in ISSR markers. PMID:25288981

Plant X-tender: An extension of the AssemblX system for the assembly and expression of multigene constructs in plants.

PubMed

Lukan, Tjaša; Machens, Fabian; Coll, Anna; Baebler, Špela; Messerschmidt, Katrin; Gruden, Kristina

2018-01-01

Cloning multiple DNA fragments for delivery of several genes of interest into the plant genome is one of the main technological challenges in plant synthetic biology. Despite several modular assembly methods developed in recent years, the plant biotechnology community has not widely adopted them yet, probably due to the lack of appropriate vectors and software tools. Here we present Plant X-tender, an extension of the highly efficient, scar-free and sequence-independent multigene assembly strategy AssemblX, based on overlap-depended cloning methods and rare-cutting restriction enzymes. Plant X-tender consists of a set of plant expression vectors and the protocols for most efficient cloning into the novel vector set needed for plant expression and thus introduces advantages of AssemblX into plant synthetic biology. The novel vector set covers different backbones and selection markers to allow full design flexibility. We have included ccdB counterselection, thereby allowing the transfer of multigene constructs into the novel vector set in a straightforward and highly efficient way. Vectors are available as empty backbones and are fully flexible regarding the orientation of expression cassettes and addition of linkers between them, if required. We optimised the assembly and subcloning protocol by testing different scar-less assembly approaches: the noncommercial SLiCE and TAR methods and the commercial Gibson assembly and NEBuilder HiFi DNA assembly kits. Plant X-tender was applicable even in combination with low efficient homemade chemically competent or electrocompetent Escherichia coli. We have further validated the developed procedure for plant protein expression by cloning two cassettes into the newly developed vectors and subsequently transferred them to Nicotiana benthamiana in a transient expression setup. Thereby we show that multigene constructs can be delivered into plant cells in a streamlined and highly efficient way. Our results will support faster

Plant X-tender: An extension of the AssemblX system for the assembly and expression of multigene constructs in plants

PubMed Central

Machens, Fabian; Coll, Anna; Baebler, Špela; Messerschmidt, Katrin; Gruden, Kristina

2018-01-01

Cloning multiple DNA fragments for delivery of several genes of interest into the plant genome is one of the main technological challenges in plant synthetic biology. Despite several modular assembly methods developed in recent years, the plant biotechnology community has not widely adopted them yet, probably due to the lack of appropriate vectors and software tools. Here we present Plant X-tender, an extension of the highly efficient, scar-free and sequence-independent multigene assembly strategy AssemblX, based on overlap-depended cloning methods and rare-cutting restriction enzymes. Plant X-tender consists of a set of plant expression vectors and the protocols for most efficient cloning into the novel vector set needed for plant expression and thus introduces advantages of AssemblX into plant synthetic biology. The novel vector set covers different backbones and selection markers to allow full design flexibility. We have included ccdB counterselection, thereby allowing the transfer of multigene constructs into the novel vector set in a straightforward and highly efficient way. Vectors are available as empty backbones and are fully flexible regarding the orientation of expression cassettes and addition of linkers between them, if required. We optimised the assembly and subcloning protocol by testing different scar-less assembly approaches: the noncommercial SLiCE and TAR methods and the commercial Gibson assembly and NEBuilder HiFi DNA assembly kits. Plant X-tender was applicable even in combination with low efficient homemade chemically competent or electrocompetent Escherichia coli. We have further validated the developed procedure for plant protein expression by cloning two cassettes into the newly developed vectors and subsequently transferred them to Nicotiana benthamiana in a transient expression setup. Thereby we show that multigene constructs can be delivered into plant cells in a streamlined and highly efficient way. Our results will support faster

Single Day Construction of Multigene Circuits with 3G Assembly.

PubMed

Halleran, Andrew D; Swaminathan, Anandh; Murray, Richard M

2018-05-18

The ability to rapidly design, build, and test prototypes is of key importance to every engineering discipline. DNA assembly often serves as a rate limiting step of the prototyping cycle for synthetic biology. Recently developed DNA assembly methods such as isothermal assembly and type IIS restriction enzyme systems take different approaches to accelerate DNA construction. We introduce a hybrid method, Golden Gate-Gibson (3G), that takes advantage of modular part libraries introduced by type IIS restriction enzyme systems and isothermal assembly's ability to build large DNA constructs in single pot reactions. Our method is highly efficient and rapid, facilitating construction of entire multigene circuits in a single day. Additionally, 3G allows generation of variant libraries enabling efficient screening of different possible circuit constructions. We characterize the efficiency and accuracy of 3G assembly for various construct sizes, and demonstrate 3G by characterizing variants of an inducible cell-lysis circuit.

Engineering metabolic pathways in plants by multigene transformation.

PubMed

Zorrilla-López, Uxue; Masip, Gemma; Arjó, Gemma; Bai, Chao; Banakar, Raviraj; Bassie, Ludovic; Berman, Judit; Farré, Gemma; Miralpeix, Bruna; Pérez-Massot, Eduard; Sabalza, Maite; Sanahuja, Georgina; Vamvaka, Evangelia; Twyman, Richard M; Christou, Paul; Zhu, Changfu; Capell, Teresa

2013-01-01

Metabolic engineering in plants can be used to increase the abundance of specific valuable metabolites, but single-point interventions generally do not improve the yields of target metabolites unless that product is immediately downstream of the intervention point and there is a plentiful supply of precursors. In many cases, an intervention is necessary at an early bottleneck, sometimes the first committed step in the pathway, but is often only successful in shifting the bottleneck downstream, sometimes also causing the accumulation of an undesirable metabolic intermediate. Occasionally it has been possible to induce multiple genes in a pathway by controlling the expression of a key regulator, such as a transcription factor, but this strategy is only possible if such master regulators exist and can be identified. A more robust approach is the simultaneous expression of multiple genes in the pathway, preferably representing every critical enzymatic step, therefore removing all bottlenecks and ensuring completely unrestricted metabolic flux. This approach requires the transfer of multiple enzyme-encoding genes to the recipient plant, which is achieved most efficiently if all genes are transferred at the same time. Here we review the state of the art in multigene transformation as applied to metabolic engineering in plants, highlighting some of the most significant recent advances in the field.

Historical Contingency in a Multigene Family Facilitates Adaptive Evolution of Toxin Resistance.

PubMed

McGlothlin, Joel W; Kobiela, Megan E; Feldman, Chris R; Castoe, Todd A; Geffeney, Shana L; Hanifin, Charles T; Toledo, Gabriela; Vonk, Freek J; Richardson, Michael K; Brodie, Edmund D; Pfrender, Michael E; Brodie, Edmund D

2016-06-20

Novel adaptations must originate and function within an already established genome [1]. As a result, the ability of a species to adapt to new environmental challenges is predicted to be highly contingent on the evolutionary history of its lineage [2-6]. Despite a growing appreciation of the importance of historical contingency in the adaptive evolution of single proteins [7-11], we know surprisingly little about its role in shaping complex adaptations that require evolutionary change in multiple genes. One such adaptation, extreme resistance to tetrodotoxin (TTX), has arisen in several species of snakes through coevolutionary arms races with toxic amphibian prey, which select for TTX-resistant voltage-gated sodium channels (Nav) [12-16]. Here, we show that the relatively recent origins of extreme toxin resistance, which involve the skeletal muscle channel Nav1.4, were facilitated by ancient evolutionary changes in two other members of the same gene family. A substitution conferring TTX resistance to Nav1.7, a channel found in small peripheral neurons, arose in lizards ∼170 million years ago (mya) and was present in the common ancestor of all snakes. A second channel found in larger myelinated neurons, Nav1.6, subsequently evolved resistance in four different snake lineages beginning ∼38 mya. Extreme TTX resistance has evolved at least five times within the past 12 million years via changes in Nav1.4, but only within lineages that previously evolved resistant Nav1.6 and Nav1.7. Our results show that adaptive protein evolution may be contingent upon enabling substitutions elsewhere in the genome, in this case, in paralogs of the same gene family. Copyright © 2016 Elsevier Ltd. All rights reserved.

A genomic view of the NOD-like receptor family in teleost fish: Identification of a novel NLR subfamily in zebrafish

USGS Publications Warehouse

Laing, K.J.; Purcell, M.K.; Winton, J.R.; Hansen, J.D.

2008-01-01

Background. A large multigene family of NOD-like receptor (NLR) molecules have been described in mammals and implicated in immunity and apoptosis. Little information, however, exists concerning this gene family in non-mammalian taxa. This current study, therefore, provides an in-depth investigation of this gene family in lower vertebrates including extensive phylogenetic comparison of zebrafish NLRs with orthologs in tetrapods, and analysis of their tissue-specific expression. Results. Three distinct NLR subfamilies were identified by mining genome databases of various non-mammalian vertebrates; the first subfamily (NLR-A) resembles mammalian NODs, the second (NLR-B) resembles mammalian NALPs, while the third (NLR-C) appears to be unique to teleost fish. In zebrafish, NLR-A and NLR-B subfamilies contain five and six genes respectively. The third subfamily is large, containing several hundred NLR-C genes, many of which are predicted to encode a C-terminal B30.2 domain. This subfamily most likely evolved from a NOD3-like molecule. Gene predictions for zebrafish NLRs were verified using sequence derived from ESTs or direct sequencing of cDNA. Reverse-transcriptase (RT)-PCR analysis confirmed expression of representative genes from each subfamily in selected tissues. Conclusion. Our findings confirm the presence of multiple NLR gene orthologs, which form a large multigene family in teleostei. Although the functional significance of the three major NLR subfamilies is unclear, we speculate that conservation and abundance of NLR molecules in all teleostei genomes, reflects an essential role in cellular control, apoptosis or immunity throughout bony fish. ?? 2008 Laing et al; licensee BioMed Central Ltd.

A multigene predictor of metastatic outcome in early stage hormone receptor-negative and triple-negative breast cancer

PubMed Central

2010-01-01

Introduction Various multigene predictors of breast cancer clinical outcome have been commercialized, but proved to be prognostic only for hormone receptor (HR) subsets overexpressing estrogen or progesterone receptors. Hormone receptor negative (HRneg) breast cancers, particularly those lacking HER2/ErbB2 overexpression and known as triple-negative (Tneg) cases, are heterogeneous and generally aggressive breast cancer subsets in need of prognostic subclassification, since most early stage HRneg and Tneg breast cancer patients are cured with conservative treatment yet invariably receive aggressive adjuvant chemotherapy. Methods An unbiased search for genes predictive of distant metastatic relapse was undertaken using a training cohort of 199 node-negative, adjuvant treatment naïve HRneg (including 154 Tneg) breast cancer cases curated from three public microarray datasets. Prognostic gene candidates were subsequently validated using a different cohort of 75 node-negative, adjuvant naïve HRneg cases curated from three additional datasets. The HRneg/Tneg gene signature was prognostically compared with eight other previously reported gene signatures, and evaluated for cancer network associations by two commercial pathway analysis programs. Results A novel set of 14 prognostic gene candidates was identified as outcome predictors: CXCL13, CLIC5, RGS4, RPS28, RFX7, EXOC7, HAPLN1, ZNF3, SSX3, HRBL, PRRG3, ABO, PRTN3, MATN1. A composite HRneg/Tneg gene signature index proved more accurate than any individual candidate gene or other reported multigene predictors in identifying cases likely to remain free of metastatic relapse. Significant positive correlations between the HRneg/Tneg index and three independent immune-related signatures (STAT1, IFN, and IR) were observed, as were consistent negative associations between the three immune-related signatures and five other proliferation module-containing signatures (MS-14, ONCO-RS, GGI, CSR/wound and NKI-70). Network analysis

The membrane skeleton in Paramecium: Molecular characterization of a novel epiplasmin family and preliminary GFP expression results.

PubMed

Pomel, Sébastien; Diogon, Marie; Bouchard, Philippe; Pradel, Lydie; Ravet, Viviane; Coffe, Gérard; Viguès, Bernard

2006-02-01

Previous attempts to identify the membrane skeleton of Paramecium cells have revealed a protein pattern that is both complex and specific. The most prominent structural elements, epiplasmic scales, are centered around ciliary units and are closely apposed to the cytoplasmic side of the inner alveolar membrane. We sought to characterize epiplasmic scale proteins (epiplasmins) at the molecular level. PCR approaches enabled the cloning and sequencing of two closely related genes by amplifications of sequences from a macronuclear genomic library. Using these two genes (EPI-1 and EPI-2), we have contributed to the annotation of the Paramecium tetraurelia macronuclear genome and identified 39 additional (paralogous) sequences. Two orthologous sequences were found in the Tetrahymena thermophila genome. Structural analysis of the 43 sequences indicates that the hallmark of this new multigenic family is a 79 aa domain flanked by two Q-, P- and V-rich stretches of sequence that are much more variable in amino-acid composition. Such features clearly distinguish members of the multigenic family from epiplasmic proteins previously sequenced in other ciliates. The expression of Green Fluorescent Protein (GFP)-tagged epiplasmin showed significant labeling of epiplasmic scales as well as oral structures. We expect that the GFP construct described herein will prove to be a useful tool for comparative subcellular localization of different putative epiplasmins in Paramecium.

Myticalins: A Novel Multigenic Family of Linear, Cationic Antimicrobial Peptides from Marine Mussels (Mytilus spp.).

PubMed

Leoni, Gabriele; De Poli, Andrea; Mardirossian, Mario; Gambato, Stefano; Florian, Fiorella; Venier, Paola; Wilson, Daniel N; Tossi, Alessandro; Pallavicini, Alberto; Gerdol, Marco

2017-08-22

The application of high-throughput sequencing technologies to non-model organisms has brought new opportunities for the identification of bioactive peptides from genomes and transcriptomes. From this point of view, marine invertebrates represent a potentially rich, yet largely unexplored resource for de novo discovery due to their adaptation to diverse challenging habitats. Bioinformatics analyses of available genomic and transcriptomic data allowed us to identify myticalins, a novel family of antimicrobial peptides (AMPs) from the mussel Mytilus galloprovincialis , and a similar family of AMPs from Modiolus spp., named modiocalins. Their coding sequence encompasses two conserved N-terminal (signal peptide) and C-terminal (propeptide) regions and a hypervariable central cationic region corresponding to the mature peptide. Myticalins are taxonomically restricted to Mytiloida and they can be classified into four subfamilies. These AMPs are subject to considerable interindividual sequence variability and possibly to presence/absence variation. Functional assays performed on selected members of this family indicate a remarkable tissue-specific expression (in gills) and broad spectrum of activity against both Gram-positive and Gram-negative bacteria. Overall, we present the first linear AMPs ever described in marine mussels and confirm the great potential of bioinformatics tools for the de novo discovery of bioactive peptides in non-model organisms.

Evolution of the chalcone synthase gene family in the genus Ipomoea.

PubMed Central

Durbin, M L; Learn, G H; Huttley, G A; Clegg, M T

1995-01-01

The evolution of the chalcone synthase [CHS; malonyl-CoA:4-coumaroyl-CoA malonyltransferase (cyclizing), EC 2.3.1.74] multigene family in the genus Ipomoea is explored. Thirteen CHS genes from seven Ipomoea species (family Convolvulaceae) were sequenced--three from genomic clones and the remainder from PCR amplification with primers designed from the 5' flanking region and the end of the 3' coding region of Ipomoea purpurea Roth. Analysis of the data indicates a duplication of CHS that predates the divergence of the Ipomoea species in this study. The Ipomoea CHS genes are among the most rapidly evolving of the CHS genes sequenced to date. The CHS genes in this study are most closely related to the Petunia CHS-B gene, which is also rapidly evolving and highly divergent from the rest of the Petunia CHS sequences. PMID:7724563

Multi-Gene Detection and Identification of Mosquito-Borne RNA Viruses Using an Oligonucleotide Microarray

PubMed Central

Grubaugh, Nathan D.; McMenamy, Scott S.; Turell, Michael J.; Lee, John S.

2013-01-01

Background Arthropod-borne viruses are important emerging pathogens world-wide. Viruses transmitted by mosquitoes, such as dengue, yellow fever, and Japanese encephalitis viruses, infect hundreds of millions of people and animals each year. Global surveillance of these viruses in mosquito vectors using molecular based assays is critical for prevention and control of the associated diseases. Here, we report an oligonucleotide DNA microarray design, termed ArboChip5.1, for multi-gene detection and identification of mosquito-borne RNA viruses from the genera Flavivirus (family Flaviviridae), Alphavirus (Togaviridae), Orthobunyavirus (Bunyaviridae), and Phlebovirus (Bunyaviridae). Methodology/Principal Findings The assay utilizes targeted PCR amplification of three genes from each virus genus for electrochemical detection on a portable, field-tested microarray platform. Fifty-two viruses propagated in cell-culture were used to evaluate the specificity of the PCR primer sets and the ArboChip5.1 microarray capture probes. The microarray detected all of the tested viruses and differentiated between many closely related viruses such as members of the dengue, Japanese encephalitis, and Semliki Forest virus clades. Laboratory infected mosquitoes were used to simulate field samples and to determine the limits of detection. Additionally, we identified dengue virus type 3, Japanese encephalitis virus, Tembusu virus, Culex flavivirus, and a Quang Binh-like virus from mosquitoes collected in Thailand in 2011 and 2012. Conclusions/Significance We demonstrated that the described assay can be utilized in a comprehensive field surveillance program by the broad-range amplification and specific identification of arboviruses from infected mosquitoes. Furthermore, the microarray platform can be deployed in the field and viral RNA extraction to data analysis can occur in as little as 12 h. The information derived from the ArboChip5.1 microarray can help to establish public health

Ground testing of Arabidopsis preservation protocol for the microarray analysis to be used in the ISS EMCS Multigen-2 experiment

NASA Astrophysics Data System (ADS)

Kittang, Ann-Iren; Kvaløy, Brita; Winge, Per; Iversen, Tor-Henning

2010-11-01

Gene expression analysis using microarrays has proved to be an important method in life science. The opportunity to grow higher plants on the International Space Station (ISS) opens up the possibility for gene expression profiling of plants grown in microgravity. The work presented focuses on how to meet the scientific requirements of plant growth and the sample preservation, given the technical and operational constraints associated with space research. The growth chamber (Multigen-2 Science Testing Unit) and a protocol suggested to be used in the European Modular Cultivation System (EMCS) Multigen-2 experiment on the ISS to grow and later preserve Arabidopsis seedlings, were tested on ground. The results showed that most of the plants developed normally. In order to avoid high population stress the number of seedlings per growth area should be reduced. The RNAlater preservation method to be used in the space experiment was compared with a quick freeze in Liquid Nitrogen (LN2). The RNA from samples preserved in RNAlater at room temperature for 24 h was slightly more degraded than the RNA from the LN2 preserved samples (RNA integrity number, RIN: 7.7 and 8.6, respectively). However, the RNA quality and quantity was satisfactory for microarray analysis. Of the genes analysed, 74 genes (0.28%) were significantly differentially expressed, most of them showing moderate to low regulation. Among the genes induced in the RNAlater preserved samples, three salt inducible transcription factors (ZAT10, SZF1 and SZF2) were identified, suggesting that the high salt concentration in RNAlater causes salt stress before the transcription stopped. In conclusion, the Multigen-2 preservation protocol tested here will allow for the genes regulated by microgravity in the space experiment to be revealed. The results do indicate that not all the biological processes are stopped instantly by the RNAlater. The limited diffusion indirectly caused by the microgravity may potentially result in

The actin multigene family and livestock speciation using the polymerase chain reaction.

PubMed

Fairbrother, K S; Hopwood, A J; Lockley, A K; Bardsley, R G

1998-01-01

Actins constitute a family of highly-conserved multifunctional intracellular proteins, best known as myofibrillar components in striated muscle fibres. Most vertebrate genomes contain numerous actin genes with high sequence homology in protein coding regions but considerable variability in intron number and sizes. This genetic diversity can be utilised for livestock speciation purposes. The high sequence conservation has enabled a single pair of oligonucleotides to be used to prime the polymerase chain reaction (PCR) with DNA extracted from all animals so far studied. Multiple amplification products were obtained which on gel electrophoresis constituted characteristic species-specific 'fingerprints'. The patterns were reproducible, did not vary between individuals of the same breed or between different breeds within a species, and could be generated even from heat-processed muscle held at 120 degrees C for one hour. Given the capacity of PCR to amplify relatively short sequences in highly-degraded DNA, this approach may be suitable for authentication of processed meat products.

Consistency and reproducibility of next-generation sequencing and other multigene mutational assays: A worldwide ring trial study on quantitative cytological molecular reference specimens.

PubMed

Malapelle, Umberto; Mayo-de-Las-Casas, Clara; Molina-Vila, Miguel A; Rosell, Rafael; Savic, Spasenija; Bihl, Michel; Bubendorf, Lukas; Salto-Tellez, Manuel; de Biase, Dario; Tallini, Giovanni; Hwang, David H; Sholl, Lynette M; Luthra, Rajyalakshmi; Weynand, Birgit; Vander Borght, Sara; Missiaglia, Edoardo; Bongiovanni, Massimo; Stieber, Daniel; Vielh, Philippe; Schmitt, Fernando; Rappa, Alessandra; Barberis, Massimo; Pepe, Francesco; Pisapia, Pasquale; Serra, Nicola; Vigliar, Elena; Bellevicine, Claudio; Fassan, Matteo; Rugge, Massimo; de Andrea, Carlos E; Lozano, Maria D; Basolo, Fulvio; Fontanini, Gabriella; Nikiforov, Yuri E; Kamel-Reid, Suzanne; da Cunha Santos, Gilda; Nikiforova, Marina N; Roy-Chowdhuri, Sinchita; Troncone, Giancarlo

2017-08-01

Molecular testing of cytological lung cancer specimens includes, beyond epidermal growth factor receptor (EGFR), emerging predictive/prognostic genomic biomarkers such as Kirsten rat sarcoma viral oncogene homolog (KRAS), neuroblastoma RAS viral [v-ras] oncogene homolog (NRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), and phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α (PIK3CA). Next-generation sequencing (NGS) and other multigene mutational assays are suitable for cytological specimens, including smears. However, the current literature reflects single-institution studies rather than multicenter experiences. Quantitative cytological molecular reference slides were produced with cell lines designed to harbor concurrent mutations in the EGFR, KRAS, NRAS, BRAF, and PIK3CA genes at various allelic ratios, including low allele frequencies (AFs; 1%). This interlaboratory ring trial study included 14 institutions across the world that performed multigene mutational assays, from tissue extraction to data analysis, on these reference slides, with each laboratory using its own mutation analysis platform and methodology. All laboratories using NGS (n = 11) successfully detected the study's set of mutations with minimal variations in the means and standard errors of variant fractions at dilution points of 10% (P = .171) and 5% (P = .063) despite the use of different sequencing platforms (Illumina, Ion Torrent/Proton, and Roche). However, when mutations at a low AF of 1% were analyzed, the concordance of the NGS results was low, and this reflected the use of different thresholds for variant calling among the institutions. In contrast, laboratories using matrix-assisted laser desorption/ionization-time of flight (n = 2) showed lower concordance in terms of mutation detection and mutant AF quantification. Quantitative molecular reference slides are a useful tool for monitoring the performance of different multigene mutational

Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test.

PubMed

Nguyen, Kevin A; Syed, Jamil S; Espenschied, Carin R; LaDuca, Holly; Bhagat, Ansh M; Suarez-Sarmiento, Alfredo; O'Rourke, Timothy K; Brierley, Karina L; Hofstatter, Erin W; Shuch, Brian

2017-11-15

Panel testing has been recently introduced to evaluate hereditary cancer; however, limited information is available regarding its use in kidney cancer. The authors retrospectively reviewed test results and clinical data from patients who underwent targeted multigene panel testing of up to 19 genes associated with hereditary kidney cancer from 2013 to 2016. The frequency of positive (mutation/variant likely pathogenic), inconclusive (variant of unknown significance), and negative results was evaluated. A logistic regression analysis evaluated predictive factors for a positive test. Patients (n = 1235) had a median age at diagnosis of 46 years, which was significantly younger than the US population of individuals with kidney cancer (P < .0001). Overall, 6.1%, 75.5%, and 18.4% of individuals had positive, negative, and inconclusive results, respectively. The most commonly altered genes included folliculin (FLCN) and fumarate hydratase (FH), which were altered in 1.8% and 1.3% of patients, respectively. Tuberous Sclerosis Complex 2 (TSC2), mesenchymal epithelial transition factor proto-oncogene (MET), and PMS1 homolog 2 (PMS2) had the highest rates of variants of unknown significance, which were identified in 2.7%, 2.2%, and 1.7% of patients, respectively. Early age of onset was the only factor that was identified as predictive of a positive test on multivariate analysis (odds ratio, 0.975; P = .0052) and may be the only identifying characteristic of low-penetrant syndromes, such as those associated with MITF (melanogenesis-associated transcription factor) mutations, which do not have singular histology or a family history of kidney cancer. Panel tests may be particularly useful for patients who lack distinguishing clinical characteristics of known hereditary kidney cancer syndromes. The current results support the use of early age of onset for genetic counseling and/or testing. Cancer 2017;123:4363-71. © 2017 American Cancer Society. © 2017 American

Molecular evolution of the major chemosensory gene families in insects.

PubMed

Sánchez-Gracia, A; Vieira, F G; Rozas, J

2009-09-01

Chemoreception is a crucial biological process that is essential for the survival of animals. In insects, olfaction allows the organism to recognise volatile cues that allow the detection of food, predators and mates, whereas the sense of taste commonly allows the discrimination of soluble stimulants that elicit feeding behaviours and can also initiate innate sexual and reproductive responses. The most important proteins involved in the recognition of chemical cues comprise moderately sized multigene families. These families include odorant-binding proteins (OBPs) and chemosensory proteins (CSPs), which are involved in peripheral olfactory processing, and the chemoreceptor superfamily formed by the olfactory receptor (OR) and gustatory receptor (GR) families. Here, we review some recent evolutionary genomic studies of chemosensory gene families using the data from fully sequenced insect genomes, especially from the 12 newly available Drosophila genomes. Overall, the results clearly support the birth-and-death model as the major mechanism of evolution in these gene families. Namely, new members arise by tandem gene duplication, progressively diverge in sequence and function, and can eventually be lost from the genome by a deletion or pseudogenisation event. Adaptive changes fostered by environmental shifts are also observed in the evolution of chemosensory families in insects and likely involve reproductive, ecological or behavioural traits. Consequently, the current size of these gene families is mainly a result of random gene gain and loss events. This dynamic process may represent a major source of genetic variation, providing opportunities for FUTURE specific adaptations.

Design and construction of multigenic constructs for plant biotechnology using the GoldenBraid cloning strategy.

PubMed

Sarrion-Perdigones, Alejandro; Palaci, Jorge; Granell, Antonio; Orzaez, Diego

2014-01-01

GoldenBraid (GB) is an iterative and standardized DNA assembling system specially designed for Multigene Engineering in Plant Synthetic Biology. GB is based on restriction-ligation reactions using type IIS restriction enzymes. GB comprises a collection of standard DNA pieces named "GB parts" and a set of destination plasmids (pDGBs) that incorporate the multipartite assembly of standardized DNA parts. GB reactions are extremely efficient: two transcriptional units (TUs) can be assembled from several basic GBparts in one T-DNA less than 24 h. Moreover, larger assemblies comprising 4-5 TUs are routinely built in less than 2 working weeks. Here we provide a detailed view of the GB methodology. As a practical example, a Bimolecular Fluorescence Complementation construct comprising four TUs in a 12 kb DNA fragment is presented.

Process for assembly and transformation into Saccharomyces cerevisiae of a synthetic yeast artificial chromosome containing a multigene cassette to express enzymes that enhance xylose utilization designed for an automated pla

USDA-ARS?s Scientific Manuscript database

A yeast artificial chromosome (YAC) containing a multigene cassette for expression of enzymes that enhance xylose utilization (xylose isomerase [XI] and xylulokinase [XKS]) was constructed and transformed into Saccharomyces cerevisiae to demonstrate feasibility as a stable protein expression system ...

Comparison of the Predictive Accuracy of DNA Array-Based Multigene Classifiers across cDNA Arrays and Affymetrix GeneChips

PubMed Central

Stec, James; Wang, Jing; Coombes, Kevin; Ayers, Mark; Hoersch, Sebastian; Gold, David L.; Ross, Jeffrey S; Hess, Kenneth R.; Tirrell, Stephen; Linette, Gerald; Hortobagyi, Gabriel N.; Symmans, W. Fraser; Pusztai, Lajos

2005-01-01

We examined how well differentially expressed genes and multigene outcome classifiers retain their class-discriminating values when tested on data generated by different transcriptional profiling platforms. RNA from 33 stage I-III breast cancers was hybridized to both Affymetrix GeneChip and Millennium Pharmaceuticals cDNA arrays. Only 30% of all corresponding gene expression measurements on the two platforms had Pearson correlation coefficient r ≥ 0.7 when UniGene was used to match probes. There was substantial variation in correlation between different Affymetrix probe sets matched to the same cDNA probe. When cDNA and Affymetrix probes were matched by basic local alignment tool (BLAST) sequence identity, the correlation increased substantially. We identified 182 genes in the Affymetrix and 45 in the cDNA data (including 17 common genes) that accurately separated 91% of cases in supervised hierarchical clustering in each data set. Cross-platform testing of these informative genes resulted in lower clustering accuracy of 45 and 79%, respectively. Several sets of accurate five-gene classifiers were developed on each platform using linear discriminant analysis. The best 100 classifiers showed average misclassification error rate of 2% on the original data that rose to 19.5% when tested on data from the other platform. Random five-gene classifiers showed misclassification error rate of 33%. We conclude that multigene predictors optimized for one platform lose accuracy when applied to data from another platform due to missing genes and sequence differences in probes that result in differing measurements for the same gene. PMID:16049308

Targeted Enrichment of Large Gene Families for Phylogenetic Inference: Phylogeny and Molecular Evolution of Photosynthesis Genes in the Portullugo Clade (Caryophyllales).

PubMed

Moore, Abigail J; Vos, Jurriaan M De; Hancock, Lillian P; Goolsby, Eric; Edwards, Erika J

2018-05-01

Hybrid enrichment is an increasingly popular approach for obtaining hundreds of loci for phylogenetic analysis across many taxa quickly and cheaply. The genes targeted for sequencing are typically single-copy loci, which facilitate a more straightforward sequence assembly and homology assignment process. However, this approach limits the inclusion of most genes of functional interest, which often belong to multi-gene families. Here, we demonstrate the feasibility of including large gene families in hybrid enrichment protocols for phylogeny reconstruction and subsequent analyses of molecular evolution, using a new set of bait sequences designed for the "portullugo" (Caryophyllales), a moderately sized lineage of flowering plants (~ 2200 species) that includes the cacti and harbors many evolutionary transitions to C$_{\\mathrm{4}}$ and CAM photosynthesis. Including multi-gene families allowed us to simultaneously infer a robust phylogeny and construct a dense sampling of sequences for a major enzyme of C$_{\\mathrm{4}}$ and CAM photosynthesis, which revealed the accumulation of adaptive amino acid substitutions associated with C$_{\\mathrm{4}}$ and CAM origins in particular paralogs. Our final set of matrices for phylogenetic analyses included 75-218 loci across 74 taxa, with ~ 50% matrix completeness across data sets. Phylogenetic resolution was greatly improved across the tree, at both shallow and deep levels. Concatenation and coalescent-based approaches both resolve the sister lineage of the cacti with strong support: Anacampserotaceae $+$ Portulacaceae, two lineages of mostly diminutive succulent herbs of warm, arid regions. In spite of this congruence, BUCKy concordance analyses demonstrated strong and conflicting signals across gene trees. Our results add to the growing number of examples illustrating the complexity of phylogenetic signals in genomic-scale data.

Characterization of Paecilomyces variotii and Talaromyces amestolkiae in Korea Based on the Morphological Characteristics and Multigene Phylogenetic Analyses

PubMed Central

Nguyen, Thi Thuong Thuong; Paul, Narayan Chandra

2016-01-01

During fungal diversity surveys of the order Eurotiales in Korea, two fungal strains, EML-DG33-1 and EML-NCP50, were isolated from samples of rat dung and fig tree leaf collected at a garden located in Gwangju in 2014. To complete the National Species List of Korea, it is a prerequisite to verify whether many questionable species, which were previously recorded but not confirmed, indeed present in Korea. Herein, the isolates were confirmed as undescribed species, Paecilomyces variotii and Talaromyces amestolkiae based on the combination of morphological and phylogenetic analyses of multigenes including the rDNA internal transcribed spacer, β-tubulin, and RNA polymerase II subunit 2. PMID:28154482

Molecular evolution of the crustacean hyperglycemic hormone family in ecdysozoans

PubMed Central

2010-01-01

Background Crustacean Hyperglycemic Hormone (CHH) family peptides are neurohormones known to regulate several important functions in decapod crustaceans such as ionic and energetic metabolism, molting and reproduction. The structural conservation of these peptides, together with the variety of functions they display, led us to investigate their evolutionary history. CHH family peptides exist in insects (Ion Transport Peptides) and may be present in all ecdysozoans as well. In order to extend the evolutionary study to the entire family, CHH family peptides were thus searched in taxa outside decapods, where they have been, to date, poorly investigated. Results CHH family peptides were characterized by molecular cloning in a branchiopod crustacean, Daphnia magna, and in a collembolan, Folsomia candida. Genes encoding such peptides were also rebuilt in silico from genomic sequences of another branchiopod, a chelicerate and two nematodes. These sequences were included in updated datasets to build phylogenies of the CHH family in pancrustaceans. These phylogenies suggest that peptides found in Branchiopoda and Collembola are more closely related to insect ITPs than to crustacean CHHs. Datasets were also used to support a phylogenetic hypothesis about pancrustacean relationships, which, in addition to gene structures, allowed us to propose two evolutionary scenarios of this multigenic family in ecdysozoans. Conclusions Evolutionary scenarios suggest that CHH family genes of ecdysozoans originate from an ancestral two-exon gene, and genes of arthropods from a three-exon one. In malacostracans, the evolution of the CHH family has involved several duplication, insertion or deletion events, leading to neuropeptides with a wide variety of functions, as observed in decapods. This family could thus constitute a promising model to investigate the links between gene duplications and functional divergence. PMID:20184761

Evolution of the merozoite surface protein 7 (msp7) family in Plasmodium vivax and P. falciparum: A comparative approach.

PubMed

Castillo, Andreína I; Andreína Pacheco, M; Escalante, Ananias A

2017-06-01

Malaria parasites (genus Plasmodium) are a diverse group found in many species of vertebrate hosts. These parasites invade red blood cells in a complex process comprising several proteins, many encoded by multigene families, one of which is merozoite surface protein 7 (msp7). In the case of Plasmodium vivax, the most geographically widespread human-infecting species, differences in the number of paralogs within multigene families have been previously explained, at least in part, as potential adaptations to the human host. To explore this in msp7, we studied its orthologs in closely related nonhuman primate parasites; investigating both paralog evolutionary history and genetic polymorphism. The emerging patterns were then compared with the human parasite Plasmodium falciparum. We found that the evolution of the msp7 family is consistent with a birth-and-death model, where duplications, pseudogenizations, and gene loss events are common. However, all paralogs in P. vivax and P. falciparum had orthologs in their closely related species in non-human primates indicating that the ancestors of those paralogs precede the events leading to their origins as human parasites. Thus, the number of paralogs cannot be explained as an adaptation to human hosts. Although there is no functional information for msp7 in P. vivax, we found evidence for purifying selection in the genetic polymorphism of some of its paralogs as well as their orthologs in closely related non-human primate parasites. We also found evidence indicating that a few of P. vivax's paralogs may have diverged from their orthologs in non-human primates by episodic positive selection. Hence, they may had been under selection when the lineage leading to P. vivax diverged from the Asian non-human primates and switched into Homininae. All these lines of evidence suggest that msp7 is functionally important in P. vivax. Copyright © 2017 Elsevier B.V. All rights reserved.

Combinatorial modification of multiple lignin traits in trees through multigene cotransformation.

PubMed

Li, Laigeng; Zhou, Yihua; Cheng, Xiaofei; Sun, Jiayan; Marita, Jane M; Ralph, John; Chiang, Vincent L

2003-04-15

Lignin quantity and reactivity [which is associated with its syringyl/guaiacyl (S/G) constituent ratio] are two major barriers to wood-pulp production. To verify our contention that these traits are regulated by distinct monolignol biosynthesis genes, encoding 4-coumarate-CoA ligase (4CL) and coniferaldehyde 5-hydroxylase (CAld5H), we used Agrobacterium to cotransfer antisense 4CL and sense CAld5H genes into aspen (Populus tremuloides). Trees expressing each one and both of the transgenes were produced with high efficiency. Lignin reduction by as much as 40% with 14% cellulose augmentation was achieved in antisense 4CL plants; S/G-ratio increases as much as 3-fold were observed without lignin quantity change in sense CAld5H plants. Consistent with our contention, these effects were independent but additive, with plants expressing both transgenes having up to 52% less lignin, a 64% higher S/G ratio, and 30% more cellulose. An S/G-ratio increase also accelerated cell maturation in stem secondary xylem, pointing to a role for syringyl lignin moieties in coordinating xylem secondary wall biosynthesis. The results suggest that this multigene cotransfer system should be broadly useful for plant genetic engineering and functional genomics.

Combinatorial modification of multiple lignin traits in trees through multigene cotransformation

PubMed Central

Li, Laigeng; Zhou, Yihua; Cheng, Xiaofei; Sun, Jiayan; Marita, Jane M.; Ralph, John; Chiang, Vincent L.

2003-01-01

Lignin quantity and reactivity [which is associated with its syringyl/guaiacyl (S/G) constituent ratio] are two major barriers to wood-pulp production. To verify our contention that these traits are regulated by distinct monolignol biosynthesis genes, encoding 4-coumarate–CoA ligase (4CL) and coniferaldehyde 5-hydroxylase (CAld5H), we used Agrobacterium to cotransfer antisense 4CL and sense CAld5H genes into aspen (Populus tremuloides). Trees expressing each one and both of the transgenes were produced with high efficiency. Lignin reduction by as much as 40% with 14% cellulose augmentation was achieved in antisense 4CL plants; S/G-ratio increases as much as 3-fold were observed without lignin quantity change in sense CAld5H plants. Consistent with our contention, these effects were independent but additive, with plants expressing both transgenes having up to 52% less lignin, a 64% higher S/G ratio, and 30% more cellulose. An S/G-ratio increase also accelerated cell maturation in stem secondary xylem, pointing to a role for syringyl lignin moieties in coordinating xylem secondary wall biosynthesis. The results suggest that this multigene cotransfer system should be broadly useful for plant genetic engineering and functional genomics. PMID:12668766

Mitotic Evolution of Plasmodium falciparum Shows a Stable Core Genome but Recombination in Antigen Families

PubMed Central

Bopp, Selina E. R.; Manary, Micah J.; Bright, A. Taylor; Johnston, Geoffrey L.; Dharia, Neekesh V.; Luna, Fabio L.; McCormack, Susan; Plouffe, David; McNamara, Case W.; Walker, John R.; Fidock, David A.; Denchi, Eros Lazzerini; Winzeler, Elizabeth A.

2013-01-01

Malaria parasites elude eradication attempts both within the human host and across nations. At the individual level, parasites evade the host immune responses through antigenic variation. At the global level, parasites escape drug pressure through single nucleotide variants and gene copy amplification events conferring drug resistance. Despite their importance to global health, the rates at which these genomic alterations emerge have not been determined. We studied the complete genomes of different Plasmodium falciparum clones that had been propagated asexually over one year in the presence and absence of drug pressure. A combination of whole-genome microarray analysis and next-generation deep resequencing (totaling 14 terabases) revealed a stable core genome with only 38 novel single nucleotide variants appearing in seventeen evolved clones (avg. 5.4 per clone). In clones exposed to atovaquone, we found cytochrome b mutations as well as an amplification event encompassing the P. falciparum multidrug resistance associated protein (mrp1) on chromosome 1. We observed 18 large-scale (>1 kb on average) deletions of telomere-proximal regions encoding multigene families, involved in immune evasion (9.5×10−6 structural variants per base pair per generation). Six of these deletions were associated with chromosomal crossovers generated during mitosis. We found only minor differences in rates between genetically distinct strains and between parasites cultured in the presence or absence of drug. Using these derived mutation rates for P. falciparum (1.0–9.7×10−9 mutations per base pair per generation), we can now model the frequency at which drug or immune resistance alleles will emerge under a well-defined set of assumptions. Further, the detection of mitotic recombination events in var gene families illustrates how multigene families can arise and change over time in P. falciparum. These results will help improve our understanding of how P. falciparum evolves to

A genome-wide analysis of the flax (Linum usitatissimum L.) dirigent protein family: from gene identification and evolution to differential regulation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Corbin, Cyrielle; Drouet, Samantha; Markulin, Lucija

Identification of DIR encoding genes in flax genome. Analysis of phylogeny, gene/protein structures and evolution. Identification of new conserved motifs linked to biochemical functions. Investigation of spatio-temporal gene expression and response to stress. Dirigent proteins (DIRs) were discovered during 8-8' lignan biosynthesis studies, through identification of stereoselective coupling to afford either (+)- or (-)-pinoresinols from E-coniferyl alcohol. DIRs are also involved or potentially involved in terpenoid, allyl/propenyl phenol lignan, pterocarpan and lignin biosynthesis. DIRs have very large multigene families in different vascular plants including flax, with most still of unknown function. DIR studies typically focus on a small subset ofmore » genes and identification of biochemical/physiological functions. Herein, a genome-wide analysis and characterization of the predicted flax DIR 44-membered multigene family was performed, this species being a rich natural grain source of 8-8' linked secoisolariciresinol-derived lignan oligomers. All predicted DIR sequences, including their promoters, were analyzed together with their public gene expression datasets. Expression patterns of selected DIRs were examined using qPCR, as well as through clustering analysis of DIR gene expression. These analyses further implicated roles for specific DIRs in (-)-pinoresinol formation in seed-coats, as well as (+)-pinoresinol in vegetative organs and/or specific responses to stress. Phylogeny and gene expression analysis segregated flax DIRs into six distinct clusters with new cluster-specific motifs identified. We propose that these findings can serve as a foundation to further systematically determine functions of DIRs, i.e. other than those already known in lignan biosynthesis in flax and other species. Given the differential expression profiles and inducibility of the flax DIR family, we provisionally propose that some DIR genes of unknown function could be involved in

A genome-wide analysis of the flax (Linum usitatissimum L.) dirigent protein family: from gene identification and evolution to differential regulation.

PubMed

Corbin, Cyrielle; Drouet, Samantha; Markulin, Lucija; Auguin, Daniel; Lainé, Éric; Davin, Laurence B; Cort, John R; Lewis, Norman G; Hano, Christophe

2018-05-01

Identification of DIR encoding genes in flax genome. Analysis of phylogeny, gene/protein structures and evolution. Identification of new conserved motifs linked to biochemical functions. Investigation of spatio-temporal gene expression and response to stress. Dirigent proteins (DIRs) were discovered during 8-8' lignan biosynthesis studies, through identification of stereoselective coupling to afford either (+)- or (-)-pinoresinols from E-coniferyl alcohol. DIRs are also involved or potentially involved in terpenoid, allyl/propenyl phenol lignan, pterocarpan and lignin biosynthesis. DIRs have very large multigene families in different vascular plants including flax, with most still of unknown function. DIR studies typically focus on a small subset of genes and identification of biochemical/physiological functions. Herein, a genome-wide analysis and characterization of the predicted flax DIR 44-membered multigene family was performed, this species being a rich natural grain source of 8-8' linked secoisolariciresinol-derived lignan oligomers. All predicted DIR sequences, including their promoters, were analyzed together with their public gene expression datasets. Expression patterns of selected DIRs were examined using qPCR, as well as through clustering analysis of DIR gene expression. These analyses further implicated roles for specific DIRs in (-)-pinoresinol formation in seed-coats, as well as (+)-pinoresinol in vegetative organs and/or specific responses to stress. Phylogeny and gene expression analysis segregated flax DIRs into six distinct clusters with new cluster-specific motifs identified. We propose that these findings can serve as a foundation to further systematically determine functions of DIRs, i.e. other than those already known in lignan biosynthesis in flax and other species. Given the differential expression profiles and inducibility of the flax DIR family, we provisionally propose that some DIR genes of unknown function could be involved in

Lentiviral gene ontology (LeGO) vectors equipped with novel drug-selectable fluorescent proteins: new building blocks for cell marking and multi-gene analysis.

PubMed

Weber, K; Mock, U; Petrowitz, B; Bartsch, U; Fehse, B

2010-04-01

Vector-encoded fluorescent proteins (FPs) facilitate unambiguous identification or sorting of gene-modified cells by fluorescence-activated cell sorting (FACS). Exploiting this feature, we have recently developed lentiviral gene ontology (LeGO) vectors (www.LentiGO-Vectors.de) for multi-gene analysis in different target cells. In this study, we extend the LeGO principle by introducing 10 different drug-selectable FPs created by fusing one of the five selection marker (protecting against blasticidin, hygromycin, neomycin, puromycin and zeocin) and one of the five FP genes (Cerulean, eGFP, Venus, dTomato and mCherry). All tested fusion proteins allowed both fluorescence-mediated detection and drug-mediated selection of LeGO-transduced cells. Newly generated codon-optimized hygromycin- and neomycin-resistance genes showed improved expression as compared with their ancestors. New LeGO constructs were produced at titers >10(6) per ml (for non-concentrated supernatants). We show efficient combinatorial marking and selection of various cells, including mesenchymal stem cells, simultaneously transduced with different LeGO constructs. Inclusion of the cytomegalovirus early enhancer/chicken beta-actin promoter into LeGO vectors facilitated robust transgene expression in and selection of neural stem cells and their differentiated progeny. We suppose that the new drug-selectable markers combining advantages of FACS and drug selection are well suited for numerous applications and vector systems. Their inclusion into LeGO vectors opens new possibilities for (stem) cell tracking and functional multi-gene analysis.

C-State: an interactive web app for simultaneous multi-gene visualization and comparative epigenetic pattern search.

PubMed

Sowpati, Divya Tej; Srivastava, Surabhi; Dhawan, Jyotsna; Mishra, Rakesh K

2017-09-13

Comparative epigenomic analysis across multiple genes presents a bottleneck for bench biologists working with NGS data. Despite the development of standardized peak analysis algorithms, the identification of novel epigenetic patterns and their visualization across gene subsets remains a challenge. We developed a fast and interactive web app, C-State (Chromatin-State), to query and plot chromatin landscapes across multiple loci and cell types. C-State has an interactive, JavaScript-based graphical user interface and runs locally in modern web browsers that are pre-installed on all computers, thus eliminating the need for cumbersome data transfer, pre-processing and prior programming knowledge. C-State is unique in its ability to extract and analyze multi-gene epigenetic information. It allows for powerful GUI-based pattern searching and visualization. We include a case study to demonstrate its potential for identifying user-defined epigenetic trends in context of gene expression profiles.

Bipartite Structure of the 5s Ribosomal Gene Family in a Drosophila Melanogaster Strain, and Its Evolutionary Implications

PubMed Central

Samson, M. L.; Wegnez, M.

1988-01-01

Knowledge of multigenic family organization should provide insight into their mode of evolution. Accordingly, we characterized the 5S ribosomal gene family in the Drosophila melanogaster strain ry(506). The 5S genes in this strain display a striking HindIII restriction difference compared to the ``standard'' D. melanogaster 5S genes. The sequence of three ry(506) 5S genes was determined. We show that the HindIII restriction site heterogeneity within the ry(506) 5S family most probably results from the same point mutation, suggesting that a single 5S variant was propagated into the 5S cluster of this strain. Furthermore, we demonstrate that the structural organization of the 5S genes in ry(506) is a bipartite structure, i.e., that about 40% of the 5S genes constitute a HindIII(+)/HindIII(-) mixed cluster, while those remaining constitute an homogeneous HindIII(-) cluster. The events which might lead to such an heterogeneous pattern are discussed from an evolutionary point of view. PMID:2835290

The linked units of 5S rDNA and U1 snDNA of razor shells (Mollusca: Bivalvia: Pharidae).

PubMed

Vierna, J; Jensen, K T; Martínez-Lage, A; González-Tizón, A M

2011-08-01

The linkage between 5S ribosomal DNA and other multigene families has been detected in many eukaryote lineages, but whether it provides any selective advantage remains unclear. In this work, we report the occurrence of linked units of 5S ribosomal DNA (5S rDNA) and U1 small nuclear DNA (U1 snDNA) in 10 razor shell species (Mollusca: Bivalvia: Pharidae) from four different genera. We obtained several clones containing partial or complete repeats of both multigene families in which both types of genes displayed the same orientation. We provide a comprehensive collection of razor shell 5S rDNA clones, both with linked and nonlinked organisation, and the first bivalve U1 snDNA sequences. We predicted the secondary structures and characterised the upstream and downstream conserved elements, including a region at -25 nucleotides from both 5S rDNA and U1 snDNA transcription start sites. The analysis of 5S rDNA showed that some nontranscribed spacers (NTSs) are more closely related to NTSs from other species (and genera) than to NTSs from the species they were retrieved from, suggesting birth-and-death evolution and ancestral polymorphism. Nucleotide conservation within the functional regions suggests the involvement of purifying selection, unequal crossing-overs and gene conversions. Taking into account this and other studies, we discuss the possible mechanisms by which both multigene families could have become linked in the Pharidae lineage. The reason why 5S rDNA is often found linked to other multigene families seems to be the result of stochastic processes within genomes in which its high copy number is determinant.

The linked units of 5S rDNA and U1 snDNA of razor shells (Mollusca: Bivalvia: Pharidae)

PubMed Central

Vierna, J; Jensen, K T; Martínez-Lage, A; González-Tizón, A M

2011-01-01

The linkage between 5S ribosomal DNA and other multigene families has been detected in many eukaryote lineages, but whether it provides any selective advantage remains unclear. In this work, we report the occurrence of linked units of 5S ribosomal DNA (5S rDNA) and U1 small nuclear DNA (U1 snDNA) in 10 razor shell species (Mollusca: Bivalvia: Pharidae) from four different genera. We obtained several clones containing partial or complete repeats of both multigene families in which both types of genes displayed the same orientation. We provide a comprehensive collection of razor shell 5S rDNA clones, both with linked and nonlinked organisation, and the first bivalve U1 snDNA sequences. We predicted the secondary structures and characterised the upstream and downstream conserved elements, including a region at −25 nucleotides from both 5S rDNA and U1 snDNA transcription start sites. The analysis of 5S rDNA showed that some nontranscribed spacers (NTSs) are more closely related to NTSs from other species (and genera) than to NTSs from the species they were retrieved from, suggesting birth-and-death evolution and ancestral polymorphism. Nucleotide conservation within the functional regions suggests the involvement of purifying selection, unequal crossing-overs and gene conversions. Taking into account this and other studies, we discuss the possible mechanisms by which both multigene families could have become linked in the Pharidae lineage. The reason why 5S rDNA is often found linked to other multigene families seems to be the result of stochastic processes within genomes in which its high copy number is determinant. PMID:21364693

Phylogenomic analysis of UDP glycosyltransferase 1 multigene family in Linum usitatissimum identified genes with varied expression patterns.

PubMed

Barvkar, Vitthal T; Pardeshi, Varsha C; Kale, Sandip M; Kadoo, Narendra Y; Gupta, Vidya S

2012-05-08

The glycosylation process, catalyzed by ubiquitous glycosyltransferase (GT) family enzymes, is a prevalent modification of plant secondary metabolites that regulates various functions such as hormone homeostasis, detoxification of xenobiotics and biosynthesis and storage of secondary metabolites. Flax (Linum usitatissimum L.) is a commercially grown oilseed crop, important because of its essential fatty acids and health promoting lignans. Identification and characterization of UDP glycosyltransferase (UGT) genes from flax could provide valuable basic information about this important gene family and help to explain the seed specific glycosylated metabolite accumulation and other processes in plants. Plant genome sequencing projects are useful to discover complexity within this gene family and also pave way for the development of functional genomics approaches. Taking advantage of the newly assembled draft genome sequence of flax, we identified 137 UDP glycosyltransferase (UGT) genes from flax using a conserved signature motif. Phylogenetic analysis of these protein sequences clustered them into 14 major groups (A-N). Expression patterns of these genes were investigated using publicly available expressed sequence tag (EST), microarray data and reverse transcription quantitative real time PCR (RT-qPCR). Seventy-three per cent of these genes (100 out of 137) showed expression evidence in 15 tissues examined and indicated varied expression profiles. The RT-qPCR results of 10 selected genes were also coherent with the digital expression analysis. Interestingly, five duplicated UGT genes were identified, which showed differential expression in various tissues. Of the seven intron loss/gain positions detected, two intron positions were conserved among most of the UGTs, although a clear relationship about the evolution of these genes could not be established. Comparison of the flax UGTs with orthologs from four other sequenced dicot genomes indicated that seven UGTs were

Genome-wide analysis of the DNA-binding with one zinc finger (Dof) transcription factor family in bananas.

PubMed

Dong, Chen; Hu, Huigang; Xie, Jianghui

2016-12-01

DNA-binding with one finger (Dof) domain proteins are a multigene family of plant-specific transcription factors involved in numerous aspects of plant growth and development. In this study, we report a genome-wide search for Musa acuminata Dof (MaDof) genes and their expression profiles at different developmental stages and in response to various abiotic stresses. In addition, a complete overview of the Dof gene family in bananas is presented, including the gene structures, chromosomal locations, cis-regulatory elements, conserved protein domains, and phylogenetic inferences. Based on the genome-wide analysis, we identified 74 full-length protein-coding MaDof genes unevenly distributed on 11 chromosomes. Phylogenetic analysis with Dof members from diverse plant species showed that MaDof genes can be classified into four subgroups (StDof I, II, III, and IV). The detailed genomic information of the MaDof gene homologs in the present study provides opportunities for functional analyses to unravel the exact role of the genes in plant growth and development.

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

PubMed

Mütze, Ulrike; Bürger, Friederike; Hoffmann, Jessica; Tegetmeyer, Helmut; Heichel, Jens; Nickel, Petra; Lemke, Johannes R; Syrbe, Steffen; Beblo, Skadi

2017-03-01

spots, even with non-significant urinary sialic acid excretion. Multigene panel next generation sequencing can establish a definite diagnosis, allowing for counseling of the patient and family.

Multigene manipulation of photosynthetic carbon assimilation increases CO2 fixation and biomass yield in tobacco

PubMed Central

Simkin, Andrew J.; McAusland, Lorna; Headland, Lauren R.; Lawson, Tracy; Raines, Christine A.

2015-01-01

Over the next 40 years it has been estimated that a 50% increase in the yield of grain crops such as wheat and rice will be required to meet the food and fuel demands of the increasing world population. Transgenic tobacco plants have been generated with altered combinations of sedoheptulose-1,7-bisphosphatase, fructose-1,6-bisphosphate aldolase, and the cyanobacterial putative-inorganic carbon transporter B, ictB, of which have all been identified as targets to improve photosynthesis based on empirical studies. It is shown here that increasing the levels of the three proteins individually significantly increases the rate of photosynthetic carbon assimilation, leaf area, and biomass yield. Furthermore, the daily integrated measurements of photosynthesis showed that mature plants fixed between 12–19% more CO2 than the equivalent wild-type plants. Further enhancement of photosynthesis and yield was observed when sedoheptulose-1,7-bisphosphatase, fructose-1,6-bisphosphate aldolase, and ictB were over-expressed together in the same plant. These results demonstrate the potential for the manipulation of photosynthesis, using multigene-stacking approaches, to increase crop yields. PMID:25956882

Elongation Factor-1α Accurately Reconstructs Relationships Amongst Psyllid Families (Hemiptera: Psylloidea), with Possible Diagnostic Implications.

PubMed

Martoni, Francesco; Bulman, Simon R; Pitman, Andrew; Armstrong, Karen F

2017-12-05

The superfamily Psylloidea (Hemiptera: Sternorrhyncha) lacks a robust multigene phylogeny. This impedes our understanding of the evolution of this group of insects and, consequently, an accurate identification of individuals, of their plant host associations, and their roles as vectors of economically important plant pathogens. The conserved nuclear gene elongation factor-1 alpha (EF-1α) has been valuable as a higher-level phylogenetic marker in insects and it has also been widely used to investigate the evolution of intron/exon structure. To explore evolutionary relationships among Psylloidea, polymerase chain reaction amplification and nucleotide sequencing of a 250-bp EF-1α gene fragment was applied to psyllids belonging to five different families. Introns were detected in three individuals belonging to two families. The nine genera belonging to the family Aphalaridae all lacked introns, highlighting the possibility of using intron presence/absence as a diagnostic tool at a family level. When paired with cytochrome oxidase I gene sequences, the 250 bp EF-1α sequence appeared to be a very promising higher-level phylogenetic marker for psyllids. © The Author(s) 2017. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Phylogenomic analysis of UDP glycosyltransferase 1 multigene family in Linum usitatissimum identified genes with varied expression patterns

PubMed Central

2012-01-01

Background The glycosylation process, catalyzed by ubiquitous glycosyltransferase (GT) family enzymes, is a prevalent modification of plant secondary metabolites that regulates various functions such as hormone homeostasis, detoxification of xenobiotics and biosynthesis and storage of secondary metabolites. Flax (Linum usitatissimum L.) is a commercially grown oilseed crop, important because of its essential fatty acids and health promoting lignans. Identification and characterization of UDP glycosyltransferase (UGT) genes from flax could provide valuable basic information about this important gene family and help to explain the seed specific glycosylated metabolite accumulation and other processes in plants. Plant genome sequencing projects are useful to discover complexity within this gene family and also pave way for the development of functional genomics approaches. Results Taking advantage of the newly assembled draft genome sequence of flax, we identified 137 UDP glycosyltransferase (UGT) genes from flax using a conserved signature motif. Phylogenetic analysis of these protein sequences clustered them into 14 major groups (A-N). Expression patterns of these genes were investigated using publicly available expressed sequence tag (EST), microarray data and reverse transcription quantitative real time PCR (RT-qPCR). Seventy-three per cent of these genes (100 out of 137) showed expression evidence in 15 tissues examined and indicated varied expression profiles. The RT-qPCR results of 10 selected genes were also coherent with the digital expression analysis. Interestingly, five duplicated UGT genes were identified, which showed differential expression in various tissues. Of the seven intron loss/gain positions detected, two intron positions were conserved among most of the UGTs, although a clear relationship about the evolution of these genes could not be established. Comparison of the flax UGTs with orthologs from four other sequenced dicot genomes indicated that

Phylogenomics of MADS-Box Genes in Plants - Two Opposing Life Styles in One Gene Family.

PubMed

Gramzow, Lydia; Theißen, Günter

2013-09-12

The development of multicellular eukaryotes, according to their body plan, is often directed by members of multigene families that encode transcription factors. MADS (for MINICHROMOSOME MAINTENANCE1, AGAMOUS, DEFICIENS and SERUM RESPONSE FACTOR)-box genes form one of those families controlling nearly all major aspects of plant development. Knowing the complete complement of MADS-box genes in sequenced plant genomes will allow a better understanding of the evolutionary patterns of these genes and the association of their evolution with the evolution of plant morphologies. Here, we have applied a combination of automatic and manual annotations to identify the complete set of MADS-box genes in 17 plant genomes. Furthermore, three plant genomes were reanalyzed and published datasets were used for four genomes such that more than 2,600 genes from 24 species were classified into the two types of MADS-box genes, Type I and Type II. Our results extend previous studies, highlighting the remarkably different evolutionary patterns of Type I and Type II genes and provide a basis for further studies on the evolution and function of MADS-box genes.

Evaluation of liquefaction potential of soil based on standard penetration test using multi-gene genetic programming model

NASA Astrophysics Data System (ADS)

Muduli, Pradyut; Das, Sarat

2014-06-01

This paper discusses the evaluation of liquefaction potential of soil based on standard penetration test (SPT) dataset using evolutionary artificial intelligence technique, multi-gene genetic programming (MGGP). The liquefaction classification accuracy (94.19%) of the developed liquefaction index (LI) model is found to be better than that of available artificial neural network (ANN) model (88.37%) and at par with the available support vector machine (SVM) model (94.19%) on the basis of the testing data. Further, an empirical equation is presented using MGGP to approximate the unknown limit state function representing the cyclic resistance ratio (CRR) of soil based on developed LI model. Using an independent database of 227 cases, the overall rates of successful prediction of occurrence of liquefaction and non-liquefaction are found to be 87, 86, and 84% by the developed MGGP based model, available ANN and the statistical models, respectively, on the basis of calculated factor of safety (F s) against the liquefaction occurrence.

A simple and reliable multi-gene transformation method for switchgrass.

PubMed

Ogawa, Yoichi; Shirakawa, Makoto; Koumoto, Yasuko; Honda, Masaho; Asami, Yuki; Kondo, Yasuhiro; Hara-Nishimura, Ikuko

2014-07-01

A simple and reliable Agrobacterium -mediated transformation method was developed for switchgrass. Using this method, many transgenic plants carrying multiple genes-of-interest could be produced without untransformed escape. Switchgrass (Panicum virgatum L.) is a promising biomass crop for bioenergy. To obtain transgenic switchgrass plants carrying a multi-gene trait in a simple manner, an Agrobacterium-mediated transformation method was established by constructing a Gateway-based binary vector, optimizing transformation conditions and developing a novel selection method. A MultiRound Gateway-compatible destination binary vector carrying the bar selectable marker gene, pHKGB110, was constructed to introduce multiple genes of interest in a single transformation. Two reporter gene expression cassettes, GUSPlus and gfp, were constructed independently on two entry vectors and then introduced into a single T-DNA region of pHKGB110 via sequential LR reactions. Agrobacterium tumefaciens EHA101 carrying the resultant binary vector pHKGB112 and caryopsis-derived compact embryogenic calli were used for transformation experiments. Prolonged cocultivation for 7 days followed by cultivation on media containing meropenem improved transformation efficiency without overgrowth of Agrobacterium, which was, however, not inhibited by cefotaxime or Timentin. In addition, untransformed escape shoots were completely eliminated during the rooting stage by direct dipping the putatively transformed shoots into the herbicide Basta solution for a few seconds, designated as the 'herbicide dipping method'. It was also demonstrated that more than 90 % of the bar-positive transformants carried both reporters delivered from pHKGB112. This simple and reliable transformation method, which incorporates a new selection technique and the use of a MultiRound Gateway-based binary vector, would be suitable for producing a large number of transgenic lines carrying multiple genes.

GBF-dependent family genes morphologically suppress the partially active Dictyostelium STATa strain.

PubMed

Shimada, Nao; Kanno-Tanabe, Naoko; Minemura, Kakeru; Kawata, Takefumi

2008-02-01

Transcription factor Dd-STATa, a functional Dictyostelium homologue of metazoan signal transducers and activators of transcription proteins, is necessary for culmination during development. We have isolated more than 18 putative multicopy suppressors of Dd-STATa using genetic screening. One was hssA gene, whose expression is known to be G-box-binding-factor-dependent and which was specific to prestalk A (pstA) cells, where Dd-STATa is activated. Also, hssA mRNA was expressed in pstA cells in the Dd-STATa-null mutant. At least 40 hssA-related genes are present in the genome and constitute a multigene family. The tagged HssA protein was translated; hssA encodes an unusually high-glycine-serine-rich small protein (8.37 kDa), which has strong homology to previously reported cyclic-adenosine-monophosphate-inducible 2C and 7E proteins. Overexpression of hssA mRNA as well as frame-shifted versions of hssA RNA suppressed the phenotype of the partially active Dd-STATa strain, suggesting that translation is not necessary for suppression. Although overexpression of prespore-specific genes among the family did not suppress the parental phenotype, prestalk-specific family members did. Although overexpression of the hssA did not revert the expression of Dd-STATa target genes, and although its suppression mechanism remains unknown, morphological reversion implies functional relationships between Dd-STATa and hssA.

Defined single-gene and multi-gene deletion mutant collections in Salmonella enterica sv Typhimurium.

PubMed

Porwollik, Steffen; Santiviago, Carlos A; Cheng, Pui; Long, Fred; Desai, Prerak; Fredlund, Jennifer; Srikumar, Shabarinath; Silva, Cecilia A; Chu, Weiping; Chen, Xin; Canals, Rocío; Reynolds, M Megan; Bogomolnaya, Lydia; Shields, Christine; Cui, Ping; Guo, Jinbai; Zheng, Yi; Endicott-Yazdani, Tiana; Yang, Hee-Jeong; Maple, Aimee; Ragoza, Yury; Blondel, Carlos J; Valenzuela, Camila; Andrews-Polymenis, Helene; McClelland, Michael

2014-01-01

We constructed two collections of targeted single gene deletion (SGD) mutants and two collections of targeted multi-gene deletion (MGD) mutants in Salmonella enterica sv Typhimurium 14028s. The SGD mutant collections contain (1), 3517 mutants in which a single gene is replaced by a cassette containing a kanamycin resistance (KanR) gene oriented in the sense direction (SGD-K), and (2), 3376 mutants with a chloramphenicol resistance gene (CamR) oriented in the antisense direction (SGD-C). A combined total of 3773 individual genes were deleted across these SGD collections. The MGD collections contain mutants bearing deletions of contiguous regions of three or more genes and include (3), 198 mutants spanning 2543 genes replaced by a KanR cassette (MGD-K), and (4), 251 mutants spanning 2799 genes replaced by a CamR cassette (MGD-C). Overall, 3476 genes were deleted in at least one MGD collection. The collections with different antibiotic markers permit construction of all viable combinations of mutants in the same background. Together, the libraries allow hierarchical screening of MGDs for different phenotypic followed by screening of SGDs within the target MGD regions. The mutants of these collections are stored at BEI Resources (www.beiresources.org) and publicly available.

In silico characterization and expression analysis of the multigene family encoding the Bowman-Birk protease inhibitor in soybean.

PubMed

de Almeida Barros, Beatriz; da Silva, Wiliane Garcia; Moreira, Maurilio Alves; de Barros, Everaldo Gonçalves

2012-01-01

The Bowman-Birk (BBI) protease inhibitors can be used as source of sulfur amino acids, can regulate endogenous protease activity during seed germination and during the defense response of plants to pathogens. In soybean this family has not been fully described. The goal of this work was to characterize in silico and analyze the expression of the members of this family in soybean. We identified 11 potential BBI genes in the soybean genome. In each one of them at least a characteristic BBI conserved domain was detected in addition to a potential signal peptide. The sequences have been positioned in the soybean physical map and the promoter regions were analyzed with respect to known regulatory elements. Elements related to seed-specific expression and also to response to biotic and abiotic stresses have been identified. Based on the in silico analysis and also on quantitative RT-PCR data it was concluded that BBI-A, BBI-CII and BBI-DII are expressed specifically in the seed. The expression profiles of these three genes are similar along seed development. Their expressions reach a maximum in the intermediate stages and decrease as the seed matures. The BBI-DII transcripts are the most abundant ones followed by those of BBI-A and BBI-CII.

An improved taxonomic sampling is a necessary but not sufficient condition for resolving inter-families relationships in Caridean decapods.

PubMed

Aznar-Cormano, L; Brisset, J; Chan, T-Y; Corbari, L; Puillandre, N; Utge, J; Zbinden, M; Zuccon, D; Samadi, S

2015-04-01

During the past decade, a large number of multi-gene analyses aimed at resolving the phylogenetic relationships within Decapoda. However relationships among families, and even among sub-families, remain poorly defined. Most analyses used an incomplete and opportunistic sampling of species, but also an incomplete and opportunistic gene selection among those available for Decapoda. Here we test in the Caridea if improving the taxonomic coverage following the hierarchical scheme of the classification, as it is currently accepted, provides a better phylogenetic resolution for the inter-families relationships. The rich collections of the Muséum National d'Histoire Naturelle de Paris are used for sampling as far as possible at least two species of two different genera for each family or subfamily. All potential markers are tested over this sampling. For some coding genes the amplification success varies greatly among taxa and the phylogenetic signal is highly saturated. This result probably explains the taxon-heterogeneity among previously published studies. The analysis is thus restricted to the genes homogeneously amplified over the whole sampling. Thanks to the taxonomic sampling scheme the monophyly of most families is confirmed. However the genes commonly used in Decapoda appear non-adapted for clarifying inter-families relationships, which remain poorly resolved. Genome-wide analyses, like transcriptome-based exon capture facilitated by the new generation sequencing methods might provide a sounder approach to resolve deep and rapid radiations like the Caridea.

User-centered design of multi-gene sequencing panel reports for clinicians.

PubMed

Cutting, Elizabeth; Banchero, Meghan; Beitelshees, Amber L; Cimino, James J; Fiol, Guilherme Del; Gurses, Ayse P; Hoffman, Mark A; Jeng, Linda Jo Bone; Kawamoto, Kensaku; Kelemen, Mark; Pincus, Harold Alan; Shuldiner, Alan R; Williams, Marc S; Pollin, Toni I; Overby, Casey Lynnette

2016-10-01

The objective of this study was to develop a high-fidelity prototype for delivering multi-gene sequencing panel (GS) reports to clinicians that simulates the user experience of a final application. The delivery and use of GS reports can occur within complex and high-paced healthcare environments. We employ a user-centered software design approach in a focus group setting in order to facilitate gathering rich contextual information from a diverse group of stakeholders potentially impacted by the delivery of GS reports relevant to two precision medicine programs at the University of Maryland Medical Center. Responses from focus group sessions were transcribed, coded and analyzed by two team members. Notification mechanisms and information resources preferred by participants from our first phase of focus groups were incorporated into scenarios and the design of a software prototype for delivering GS reports. The goal of our second phase of focus group, to gain input on the prototype software design, was accomplished through conducting task walkthroughs with GS reporting scenarios. Preferences for notification, content and consultation from genetics specialists appeared to depend upon familiarity with scenarios for ordering and delivering GS reports. Despite familiarity with some aspects of the scenarios we proposed, many of our participants agreed that they would likely seek consultation from a genetics specialist after viewing the test reports. In addition, participants offered design and content recommendations. Findings illustrated a need to support customized notification approaches, user-specific information, and access to genetics specialists with GS reports. These design principles can be incorporated into software applications that deliver GS reports. Our user-centered approach to conduct this assessment and the specific input we received from clinicians may also be relevant to others working on similar projects. Copyright © 2016 Elsevier Inc. All rights

Full-Length Venom Protein cDNA Sequences from Venom-Derived mRNA: Exploring Compositional Variation and Adaptive Multigene Evolution

PubMed Central

Modahl, Cassandra M.; Mackessy, Stephen P.

2016-01-01

Envenomation of humans by snakes is a complex and continuously evolving medical emergency, and treatment is made that much more difficult by the diverse biochemical composition of many venoms. Venomous snakes and their venoms also provide models for the study of molecular evolutionary processes leading to adaptation and genotype-phenotype relationships. To compare venom complexity and protein sequences, venom gland transcriptomes are assembled, which usually requires the sacrifice of snakes for tissue. However, toxin transcripts are also present in venoms, offering the possibility of obtaining cDNA sequences directly from venom. This study provides evidence that unknown full-length venom protein transcripts can be obtained from the venoms of multiple species from all major venomous snake families. These unknown venom protein cDNAs are obtained by the use of primers designed from conserved signal peptide sequences within each venom protein superfamily. This technique was used to assemble a partial venom gland transcriptome for the Middle American Rattlesnake (Crotalus simus tzabcan) by amplifying sequences for phospholipases A2, serine proteases, C-lectins, and metalloproteinases from within venom. Phospholipase A2 sequences were also recovered from the venoms of several rattlesnakes and an elapid snake (Pseudechis porphyriacus), and three-finger toxin sequences were recovered from multiple rear-fanged snake species, demonstrating that the three major clades of advanced snakes (Elapidae, Viperidae, Colubridae) have stable mRNA present in their venoms. These cDNA sequences from venom were then used to explore potential activities derived from protein sequence similarities and evolutionary histories within these large multigene superfamilies. Venom-derived sequences can also be used to aid in characterizing venoms that lack proteomic profiles and identify sequence characteristics indicating specific envenomation profiles. This approach, requiring only venom, provides

Construction of a highly efficient display system for baculovirus and its application on multigene co-display.

PubMed

Zheng, Hao; Wang, Xiong; Ren, Feifei; Zou, Shenglong; Feng, Min; Xu, Liangliang; Yao, Lunguang; Sun, Jingchen

2018-06-19

The classical baculovirus display system (BDS) has often recruited fields including gene delivery, gene therapy, and the genetic engineering of vaccines, as it is capable of presenting foreign polypeptides on the membranes of recombinant baculovirus through a transmembrane protein. However, classical BDS's high cost, complicated operation, low display efficiency and its inability to simultaneously display multiple gene products impede its practicality. In this study, we present a novel and highly efficient display system based on ires-dependent gp64 for rescuing gp64-null Bacmid of baculovirus construction without affecting the viral replication cycle, which we name the baculovirus multigene display system (BMDS). Laser scanning confocal microscopy demonstrated that eGFP, eYFP, and mCherry were translocated on the membrane of Spodoptera frugiperda 9 cell successfully as expected. Western blot analysis further confirmed the presence of the fluorescent proteins on the budded, mature viral particles. The results showed the display efficiency of target gene on cell surface is fourfold that of classical BDS. In addition, a recombinant baculovirus displaying three kinds of fluorescent proteins simultaneously was constructed, thereby demonstrating the effectiveness of BMDS as a co-display system.

A Modular Plasmid Assembly Kit for Multigene Expression, Gene Silencing and Silencing Rescue in Plants

PubMed Central

Binder, Andreas; Lambert, Jayne; Morbitzer, Robert; Popp, Claudia; Ott, Thomas; Lahaye, Thomas; Parniske, Martin

2014-01-01

The Golden Gate (GG) modular assembly approach offers a standardized, inexpensive and reliable way to ligate multiple DNA fragments in a pre-defined order in a single-tube reaction. We developed a GG based toolkit for the flexible construction of binary plasmids for transgene expression in plants. Starting from a common set of modules, such as promoters, protein tags and transcribed regions of interest, synthetic genes are assembled, which can be further combined to multigene constructs. As an example, we created T-DNA constructs encoding multiple fluorescent proteins targeted to distinct cellular compartments (nucleus, cytosol, plastids) and demonstrated simultaneous expression of all genes in Nicotiana benthamiana, Lotus japonicus and Arabidopsis thaliana. We assembled an RNA interference (RNAi) module for the construction of intron-spliced hairpin RNA constructs and demonstrated silencing of GFP in N. benthamiana. By combination of the silencing construct together with a codon adapted rescue construct into one vector, our system facilitates genetic complementation and thus confirmation of the causative gene responsible for a given RNAi phenotype. As proof of principle, we silenced a destabilized GFP gene (dGFP) and restored GFP fluorescence by expression of a recoded version of dGFP, which was not targeted by the silencing construct. PMID:24551083

Transcriptome mining: Multigene panel to test delousing drug response in the sea louse Caligus rogercresseyi.

PubMed

Valenzuela-Muñoz, V; Gallardo-Escárate, C

2016-02-01

Controlling infestations of copepodid ectoparasites in the salmon industry is increasingly problematic given higher instances of drug resistance or loss of sensitivity. Despite the importance of this issue, the molecular mechanisms and genes implicated in resistance/susceptibility are only scarcely understood. The objective of the present study was to identify and evaluate the expression levels of candidate genes associated with delousing drug response in the sea louse Caligus rogercresseyi. From RNA-seq data obtained for adult male and female sea lice, 62.48 M reads were assembled in 70,349 high-quality contigs. BLASTX analysis against UniprotKB/Swiss-Prot and the ESTs available for crustaceans in the NCBI database identified 870 transcripts previously related to genes associated with delousing drug response. Furthermore, 14 candidate genes were validated through RT-qPCR and were evaluated with deltamethrin and azamethiphos bioassays. The results evidenced an overregulation of genes involved in ion transport in salmon lice treated with deltamethrin, while those treated with azamethiphos evidenced an overregulation of genes such as cytochrome P450, Carboxylesterase, and acetylcholine receptors. The present study provides a multigene panel to test delousing drug response to pyrethroids and organophosphates in a highly prevalent pathogen of the Chilean salmon industry. Copyright © 2015 Elsevier B.V. All rights reserved.

Evidence for a low-temperature magnetic ground state in double-perovskite iridates with I r5 +(5 d4) ions

NASA Astrophysics Data System (ADS)

Terzic, J.; Zheng, H.; Ye, Feng; Zhao, H. D.; Schlottmann, P.; De Long, L. E.; Yuan, S. J.; Cao, G.

2017-08-01

We report an unusual magnetic ground state in single-crystal, double-perovskite B a2YIr O6 and Sr-doped B a2YIr O6 with I r5 +(5 d4) ions. Long-range magnetic order below 1.7 K is confirmed by dc magnetization, ac magnetic susceptibility, and heat-capacity measurements. The observed magnetic order is extraordinarily delicate and cannot be explained in terms of either a low-spin S =1 state, or a singlet Jeff=0 state imposed by the spin-orbit interactions (SOI). Alternatively, the magnetic ground state appears consistent with a SOI that competes with comparable Hund's rule coupling and inherently large electron hopping, which cannot stabilize the singlet Jeff=0 ground state. However, this picture is controversial, and conflicting magnetic behavior for these materials is reported in both experimental and theoretical studies, which highlights the intricate interplay of interactions that determine the ground state of materials with strong SOI.

Homology-dependent Gene Silencing in Paramecium

PubMed Central

Ruiz, Françoise; Vayssié, Laurence; Klotz, Catherine; Sperling, Linda; Madeddu, Luisa

1998-01-01

Microinjection at high copy number of plasmids containing only the coding region of a gene into the Paramecium somatic macronucleus led to a marked reduction in the expression of the corresponding endogenous gene(s). The silencing effect, which is stably maintained throughout vegetative growth, has been observed for all Paramecium genes examined so far: a single-copy gene (ND7), as well as members of multigene families (centrin genes and trichocyst matrix protein genes) in which all closely related paralogous genes appeared to be affected. This phenomenon may be related to posttranscriptional gene silencing in transgenic plants and quelling in Neurospora and allows the efficient creation of specific mutant phenotypes thus providing a potentially powerful tool to study gene function in Paramecium. For the two multigene families that encode proteins that coassemble to build up complex subcellular structures the analysis presented herein provides the first experimental evidence that the members of these gene families are not functionally redundant. PMID:9529389

Multigenic Control of Measles Vaccine Immunity Mediated by Polymorphisms in Measles Receptor, Innate Pathway, and Cytokine Genes

PubMed Central

Kennedy, Richard B.; Ovsyannikova, Inna G.; Haralambieva, Iana H.; O’Byrne, Megan; Jacobson, Robert M.; Pankratz, V. Shane; Poland, Gregory A.

2012-01-01

Measles infection and vaccine response are complex biological processes that involve both viral and host genetic factors. We have previously investigated the influence of genetic polymorphisms on vaccine immune response, including measles vaccines, and have shown that polymorphisms in HLA, cytokine, cytokine receptor, and innate immune response genes are associated with variation in vaccine response but do not account for all of the inter-individual variance seen in vaccinated populations. In the current study we report the findings of a multigenic analysis of measles vaccine immunity, indicating a role for the measles virus receptor CD46, innate pattern-recognition receptors (DDX58, TLR2, 4, 5,7 and 8) and intracellular signaling intermediates (MAP3K7, NFKBIA), and key antiviral molecules (VISA, OAS2, MX1, PKR) as well as cytokines (IFNA1, IL4, IL6, IL8, IL12B) and cytokine receptor genes (IL2RB, IL6R, IL8RA) in the genetic control of both humoral and cellular immune responses. This multivariate approach provided additional insights into the genetic control of measles vaccine responses over and above the information gained by our previous univariate SNP association analyses. PMID:22265947

Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care.

PubMed

Graffeo, Rossella; Livraghi, Luca; Pagani, Olivia; Goldhirsch, Aron; Partridge, Ann H; Garber, Judy E

2016-12-01

Genetic evaluation is increasingly becoming an integral part of the management of women with newly diagnosed breast and ovarian cancer (OC), and of individuals at high risk for these diseases. Genetic counseling and testing have been incorporated into oncological care to help and complete management and treatment strategies. Risk assessment and early detection strategies in individuals with BRCA1/2 mutations and with Lynch syndrome have been quite extensively studied, whereas much less is known about the management of mutation carriers with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e.g., PALB2, CHEK2, ATM, NF1, RAD51C, RAD51D, BRIP1). The latter patient groups represent important ongoing research opportunities to enable informed counseling about appropriate clinical management. We summarize the current guidelines for the management of high and moderate-penetrance mutations for breast and OC susceptibility. Continuous updating of guidelines for proper clinical management of these individuals is ongoing because of rapid advances in technology and knowledge in this field. Thus, we exhort the use of multigene panels for the assessment of cancer risk beyond the classic predisposition syndromes as a new standard of care in cancer genetics. We further support an increase of genetic counselors in Europe and use of their expertise to support genetic testing in specialist multidisciplinary teams.

2A self-cleaving peptide-based multi-gene expression system in the silkworm Bombyx mori

PubMed Central

Wang, Yuancheng; Wang, Feng; Wang, Riyuan; Zhao, Ping; Xia, Qingyou

2015-01-01

Fundamental and applied studies of silkworms have entered the functional genomics era. Here, we report a multi-gene expression system (MGES) based on 2A self-cleaving peptide (2A), which regulates the simultaneous expression and cleavage of multiple gene targets in the silk gland of transgenic silkworms. First, a glycine-serine-glycine spacer (GSG) was found to significantly improve the cleavage efficiency of 2A. Then, the cleavage efficiency of six types of 2As with GSG was analyzed. The shortest porcine teschovirus-1 2A (P2A-GSG) exhibited the highest cleavage efficiency in all insect cell lines that we tested. Next, P2A-GSG successfully cleaved the artificial human serum albumin (66 kDa) linked with human acidic fibroblast growth factor (20.2 kDa) fusion genes and vitellogenin receptor fragment (196 kD) of silkworm linked with EGFP fusion genes, importantly, vitellogenin receptor protein was secreted to the outside of cells. Furthermore, P2A-GSG successfully mediated the simultaneous expression and cleavage of a DsRed and EGFP fusion gene in silk glands and caused secretion into the cocoon of transgenic silkworms using our sericin1 expression system. We predicted that the MGES would be an efficient tool for gene function research and innovative research on various functional silk materials in medicine, cosmetics, and other biomedical areas. PMID:26537835

A multigene prognostic assay for selection of adjuvant chemotherapy in patients with T3, stage II colon cancer: impact on quality-adjusted life expectancy and costs.

PubMed

Hornberger, John; Lyman, Gary H; Chien, Rebecca; Meropol, Neal J

2012-12-01

Uncertainty exists regarding appropriate and affordable use of adjuvant chemotherapy in stage II colon cancer (T3, proficient DNA mismatch repair). This study aimed to estimate the effectiveness and costs from a US societal perspective of a multigene recurrence score (RS) assay for patients recently diagnosed with stage II colon cancer (T3, proficient DNA mismatch repair) eligible for adjuvant chemotherapy. RS was compared with guideline-recommended clinicopathological factors (tumor stage, lymph nodes examined, tumor grade, and lymphovascular invasion) by using a state-transition (Markov) lifetime model. Data were obtained from published literature, a randomized controlled trial (QUick And Simple And Reliable) of adjuvant chemotherapy, and rates of chemotherapy use from the National Cooperative Cancer Network Colon/Rectum Cancer Outcomes study. Life-years, quality-adjusted life expectancy, and lifetime costs were examined. The RS is projected to reduce adjuvant chemotherapy use by 17% compared with current treatment patterns and to increase quality-adjusted life expectancy by an average of 0.035 years. Direct medical costs are expected to decrease by an average of $2971 per patient. The assay was cost saving for all subgroups of patients stratified by clinicopathologic factors. The most influential variables affecting treatment decisions were projected years of life remaining, recurrence score, and patients' disutilities associated with adjuvant chemotherapy. Use of the multigene RS to assess recurrence risk after surgery in stage II colon cancer (T3, proficient DNA mismatch repair) may reduce the use of adjuvant chemotherapy without decreasing quality-adjusted life expectancy and be cost saving from a societal perspective. These findings need to be validated in additional cohorts, including studies of clinical practice as assay use diffuses into nonacademic settings. Copyright © 2012 International Society for Pharmacoeconomics and Outcomes Research (ISPOR

One-step assembly and targeted integration of multigene constructs assisted by the I-SceI meganuclease in Saccharomyces cerevisiae

PubMed Central

Kuijpers, Niels GA; Chroumpi, Soultana; Vos, Tim; Solis-Escalante, Daniel; Bosman, Lizanne; Pronk, Jack T; Daran, Jean-Marc; Daran-Lapujade, Pascale

2013-01-01

In vivo assembly of overlapping fragments by homologous recombination in Saccharomyces cerevisiae is a powerful method to engineer large DNA constructs. Whereas most in vivo assembly methods reported to date result in circular vectors, stable integrated constructs are often preferred for metabolic engineering as they are required for large-scale industrial application. The present study explores the potential of combining in vivo assembly of large, multigene expression constructs with their targeted chromosomal integration in S. cerevisiae. Combined assembly and targeted integration of a ten-fragment 22-kb construct to a single chromosomal locus was successfully achieved in a single transformation process, but with low efficiency (5% of the analyzed transformants contained the correctly assembled construct). The meganuclease I-SceI was therefore used to introduce a double-strand break at the targeted chromosomal locus, thus to facilitate integration of the assembled construct. I-SceI-assisted integration dramatically increased the efficiency of assembly and integration of the same construct to 95%. This study paves the way for the fast, efficient, and stable integration of large DNA constructs in S. cerevisiae chromosomes. PMID:24028550

Genome-wide analysis identifies gain and loss/change of function within the small multigenic insecticidal Albumin 1 family of Medicago truncatula.

PubMed

Karaki, L; Da Silva, P; Rizk, F; Chouabe, C; Chantret, N; Eyraud, V; Gressent, F; Sivignon, C; Rahioui, I; Kahn, D; Brochier-Armanet, C; Rahbé, Y; Royer, C

2016-03-10

Albumin 1b peptides (A1b) are small disulfide-knotted insecticidal peptides produced by Fabaceae (also called Leguminosae). To date, their diversity among this plant family has been essentially investigated through biochemical and PCR-based approaches. The availability of high-quality genomic resources for several fabaceae species, among which the model species Medicago truncatula (Mtr), allowed for a genomic analysis of this protein family aimed at i) deciphering the evolutionary history of A1b proteins and their links with A1b-nodulins that are short non-insecticidal disulfide-bonded peptides involved in root nodule signaling and ii) exploring the functional diversity of A1b for novel bioactive molecules. Investigating the Mtr genome revealed a remarkable expansion, mainly through tandem duplications, of albumin1 (A1) genes, retaining nearly all of the same canonical structure at both gene and protein levels. Phylogenetic analysis revealed that the ancestral molecule was most probably insecticidal giving rise to, among others, A1b-nodulins. Expression meta-analysis revealed that many A1b coding genes are silent and a wide tissue distribution of the A1 transcripts/peptides within plant organs. Evolutionary rate analyses highlighted branches and sites with positive selection signatures, including two sites shown to be critical for insecticidal activity. Seven peptides were chemically synthesized and folded in vitro, then assayed for their biological activity. Among these, AG41 (aka MtrA1013 isoform, encoded by the orphan TA24778 contig.), showed an unexpectedly high insecticidal activity. The study highlights the unique burst of diversity of A1 peptides within the Medicago genus compared to the other taxa for which full-genomes are available: no A1 member in Lotus, or in red clover to date, while only a few are present in chick pea, soybean or pigeon pea genomes. The expansion of the A1 family in the Medicago genus is reminiscent of the situation described for

Review of the Year's Publications for 2008: Social Justice Education

ERIC Educational Resources Information Center

Adams, Maurianne; Brigham, Elaine; Whitlock, Elaine R. Cook; Johnson, Julie

2009-01-01

This article offers an annotated bibliographical review of the preceding year's publications in the field of social justice education. In this Year in Review for 2008 (YIR '08), the authors present the work of two Social Justice Education doctoral students and the editors of "Equity & Excellence in Education (EEE)," who together have…

Multigene phylogeny of land plants with special reference to bryophytes and the earliest land plants.

PubMed

Nickrent, D L; Parkinson, C L; Palmer, J D; Duff, R J

2000-12-01

A widely held view of land plant relationships places liverworts as the first branch of the land plant tree, whereas some molecular analyses and a cladistic study of morphological characters indicate that hornworts are the earliest land plants. To help resolve this conflict, we used parsimony and likelihood methods to analyze a 6, 095-character data set composed of four genes (chloroplast rbcL and small-subunit rDNA from all three plant genomes) from all major land plant lineages. In all analyses, significant support was obtained for the monophyly of vascular plants, lycophytes, ferns (including PSILOTUM: and EQUISETUM:), seed plants, and angiosperms. Relationships among the three bryophyte lineages were unresolved in parsimony analyses in which all positions were included and weighted equally. However, in parsimony and likelihood analyses in which rbcL third-codon-position transitions were either excluded or downweighted (due to apparent saturation), hornworts were placed as sister to all other land plants, with mosses and liverworts jointly forming the second deepest lineage. Decay analyses and Kishino-Hasegawa tests of the third-position-excluded data set showed significant support for the hornwort-basal topology over several alternative topologies, including the commonly cited liverwort-basal topology. Among the four genes used, mitochondrial small-subunit rDNA showed the lowest homoplasy and alone recovered essentially the same topology as the multigene tree. This molecular phylogeny presents new opportunities to assess paleontological evidence and morphological innovations that occurred during the early evolution of terrestrial plants.

Molecular Evolution of Trehalose-6-Phosphate Synthase (TPS) Gene Family in Populus, Arabidopsis and Rice

PubMed Central

Yang, Hai-Ling; Liu, Yan-Jing; Wang, Cai-Ling; Zeng, Qing-Yin

2012-01-01

Trehalose-6-phosphate synthase (TPS) plays important roles in trehalose metabolism and signaling. Plant TPS proteins contain both a TPS and a trehalose-6-phosphate phosphatase (TPP) domain, which are coded by a multi-gene family. The plant TPS gene family has been divided into class I and class II. A previous study showed that the Populus, Arabidopsis, and rice genomes have seven class I and 27 class II TPS genes. In this study, we found that all class I TPS genes had 16 introns within the protein-coding region, whereas class II TPS genes had two introns. A significant sequence difference between the two classes of TPS proteins was observed by pairwise sequence comparisons of the 34 TPS proteins. A phylogenetic analysis revealed that at least seven TPS genes were present in the monocot–dicot common ancestor. Segmental duplications contributed significantly to the expansion of this gene family. At least five and three TPS genes were created by segmental duplication events in the Populus and rice genomes, respectively. Both the TPS and TPP domains of 34 TPS genes have evolved under purifying selection, but the selective constraint on the TPP domain was more relaxed than that on the TPS domain. Among 34 TPS genes from Populus, Arabidopsis, and rice, four class I TPS genes (AtTPS1, OsTPS1, PtTPS1, and PtTPS2) were under stronger purifying selection, whereas three Arabidopsis class I TPS genes (AtTPS2, 3, and 4) apparently evolved under relaxed selective constraint. Additionally, a reverse transcription polymerase chain reaction analysis showed the expression divergence of the TPS gene family in Populus, Arabidopsis, and rice under normal growth conditions and in response to stressors. Our findings provide new insights into the mechanisms of gene family expansion and functional evolution. PMID:22905132

Molecular evolution of trehalose-6-phosphate synthase (TPS) gene family in Populus, Arabidopsis and rice.

PubMed

Yang, Hai-Ling; Liu, Yan-Jing; Wang, Cai-Ling; Zeng, Qing-Yin

2012-01-01

Trehalose-6-phosphate synthase (TPS) plays important roles in trehalose metabolism and signaling. Plant TPS proteins contain both a TPS and a trehalose-6-phosphate phosphatase (TPP) domain, which are coded by a multi-gene family. The plant TPS gene family has been divided into class I and class II. A previous study showed that the Populus, Arabidopsis, and rice genomes have seven class I and 27 class II TPS genes. In this study, we found that all class I TPS genes had 16 introns within the protein-coding region, whereas class II TPS genes had two introns. A significant sequence difference between the two classes of TPS proteins was observed by pairwise sequence comparisons of the 34 TPS proteins. A phylogenetic analysis revealed that at least seven TPS genes were present in the monocot-dicot common ancestor. Segmental duplications contributed significantly to the expansion of this gene family. At least five and three TPS genes were created by segmental duplication events in the Populus and rice genomes, respectively. Both the TPS and TPP domains of 34 TPS genes have evolved under purifying selection, but the selective constraint on the TPP domain was more relaxed than that on the TPS domain. Among 34 TPS genes from Populus, Arabidopsis, and rice, four class I TPS genes (AtTPS1, OsTPS1, PtTPS1, and PtTPS2) were under stronger purifying selection, whereas three Arabidopsis class I TPS genes (AtTPS2, 3, and 4) apparently evolved under relaxed selective constraint. Additionally, a reverse transcription polymerase chain reaction analysis showed the expression divergence of the TPS gene family in Populus, Arabidopsis, and rice under normal growth conditions and in response to stressors. Our findings provide new insights into the mechanisms of gene family expansion and functional evolution.

QTL analysis of late blight resistance in a diploid potato family of Solanum phureja x S. stenotomum.

PubMed

Costanzo, S; Simko, I; Christ, B J; Haynes, K G

2005-08-01

Field resistance to Phytophthora infestans (Mont.) de Bary, the causal agent of late blight in potatoes, has been characterized in a potato segregating family of 230 full-sib progenies derived from a cross between two hybrid Solanum phureja x S. stenotomum clones. The distribution of area under the disease progress curve values, measured in different years and locations, was consistent with the inheritance of multigenic resistance. Relatively high levels of resistance and transgressive segregations were also observed within this family. A genetic linkage map of this population was constructed with the intent of mapping quantitative trait loci (QTLs) associated with this late blight field resistance. A total of 132 clones from this family were genotyped based on 162 restriction fragment length polymorphism (RFLP) markers. The genome coverage by the map (855.2 cM) is estimated to be at least 70% and includes 112 segregating RFLP markers and two phenotypic markers, with an average distance of 7.7 cM between two markers. Two methods were employed to determine trait-marker association, the non-parametric Kruskal-Wallis test and interval mapping analysis. Three major QTLs were detected on linkage group III, V, and XI, explaining 23, 17, and 10%, respectively, of the total phenotypic variation. The present study revealed the presence of potentially new genetic loci in this diploid potato family contributing to general resistance against late blight. The identification of these QTLs represents the first step toward their introgression into cultivated tetraploid potato cultivars through marker-assisted selection.

Crystallization and preliminary crystallographic studies of human kallikrein 7, a serine protease of the multigene kallikrein family

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fernández, Israel S.; Ständker, Ludger; Hannover Medical School, Center of Pharmacology, 30625 Hannover

2007-08-01

The cloning, expression, purification and crystallization of recombinant human kallikrein 7, directly synthesized in the active form in E. coli, is described. Diffraction data were collected to 2.8 Å resolution from native crystals. Human kallikreins are a group of serine proteases of high sequence homology whose genes are grouped as a single cluster at chromosome 19. Although the physiological roles of kallikreins are generally still unknown, members of the kallikrein family have been clearly implicated in pathological situations such as cancer and psoriasis. Human kallikrein 7 (hK7) has been shown to be involved in pathological keratinization, psoriasis and ovarian cancer.more » In order to gain insight into the molecular structure of this protein, hK7 was crystallized after recombinant production in its folded and active form using a periplasmic secretion vector in Escherichia coli. The crystals belonged to the rhombohedral space group H32 and diffracted to 2.8 Å. The phase problem was solved by molecular replacement using the mouse kallikrein-related protein neuropsin. Completion of the model and structure refinement are under way.« less

Identification of presumed ancestral DNA sequences of phaseolin in Phaseolus vulgaris.

PubMed Central

Kami, J; Velásquez, V B; Debouck, D G; Gepts, P

1995-01-01

Common bean (Phaseolus vulgaris) consists of two major geographic gene pools, one distributed in Mexico, Central America, and Colombia and the other in the southern Andes (southern Peru, Bolivia, and Argentina). Amplification and sequencing of members of the multigene family coding for phaseolin, the major seed storage protein of the common bean, provide evidence for accumulation of tandem direct repeats in both introns and exons during evolution of the multigene family in this species. The presumed ancestral phaseolin sequences, without tandem repeats, were found in recently discovered but nearly extinct wild common bean populations of Ecuador and northern Peru that are intermediate between the two major gene pools of the species based on geographical and molecular arguments. Our results illustrate the usefulness of tandem direct repeats in establishing the polarity of DNA sequence divergence and therefore in proposing phylogenies. Images Fig. 1 Fig. 3 PMID:7862642

Monthly streamflow forecasting using continuous wavelet and multi-gene genetic programming combination

NASA Astrophysics Data System (ADS)

Hadi, Sinan Jasim; Tombul, Mustafa

2018-06-01

Streamflow is an essential component of the hydrologic cycle in the regional and global scale and the main source of fresh water supply. It is highly associated with natural disasters, such as droughts and floods. Therefore, accurate streamflow forecasting is essential. Forecasting streamflow in general and monthly streamflow in particular is a complex process that cannot be handled by data-driven models (DDMs) only and requires pre-processing. Wavelet transformation is a pre-processing technique; however, application of continuous wavelet transformation (CWT) produces many scales that cause deterioration in the performance of any DDM because of the high number of redundant variables. This study proposes multigene genetic programming (MGGP) as a selection tool. After the CWT analysis, it selects important scales to be imposed into the artificial neural network (ANN). A basin located in the southeast of Turkey is selected as case study to prove the forecasting ability of the proposed model. One month ahead downstream flow is used as output, and downstream flow, upstream, rainfall, temperature, and potential evapotranspiration with associated lags are used as inputs. Before modeling, wavelet coherence transformation (WCT) analysis was conducted to analyze the relationship between variables in the time-frequency domain. Several combinations were developed to investigate the effect of the variables on streamflow forecasting. The results indicated a high localized correlation between the streamflow and other variables, especially the upstream. In the models of the standalone layout where the data were entered to ANN and MGGP without CWT, the performance is found poor. In the best-scale layout, where the best scale of the CWT identified as the highest correlated scale is chosen and enters to ANN and MGGP, the performance increased slightly. Using the proposed model, the performance improved dramatically particularly in forecasting the peak values because of the inclusion

Multi-gene fluorescence in situ hybridization to detect cell cycle gene copy number aberrations in young breast cancer patients

PubMed Central

Li, Chunyan; Bai, Jingchao; Hao, Xiaomeng; Zhang, Sheng; Hu, Yunhui; Zhang, Xiaobei; Yuan, Weiping; Hu, Linping; Cheng, Tao; Zetterberg, Anders; Lee, Mong-Hong; Zhang, J

2014-01-01

Breast cancer is a disease of cell cycle, and the dysfunction of cell cycle checkpoints plays a vital role in the occurrence and development of breast cancer. We employed multi-gene fluorescence in situ hybridization (M-FISH) to investigate gene copy number aberrations (CNAs) of 4 genes (Rb1, CHEK2, c-Myc, CCND1) that are involved in the regulation of cell cycle, in order to analyze the impact of gene aberrations on prognosis in the young breast cancer patients. Gene copy number aberrations of these 4 genes were more frequently observed in young breast cancer patients when compared with the older group. Further, these CNAs were more frequently seen in Luminal B type, Her2 overexpression, and tiple-negative breast cancer (TNBC) type in young breast cancer patients. The variations of CCND1, Rb1, and CHEK2 were significantly correlated with poor survival in the young breast cancer patient group, while the amplification of c-Myc was not obviously correlated with poor survival in young breast cancer patients. Thus, gene copy number aberrations (CNAs) of cell cycle-regulated genes can serve as an important tool for prognosis in young breast cancer patients. PMID:24621502

The plant energy-dissipating mitochondrial systems: depicting the genomic structure and the expression profiles of the gene families of uncoupling protein and alternative oxidase in monocots and dicots.

PubMed

Borecky, Jirí; Nogueira, Fábio T S; de Oliveira, Kívia A P; Maia, Ivan G; Vercesi, Aníbal E; Arruda, Paulo

2006-01-01

The simultaneous existence of alternative oxidases and uncoupling proteins in plants has raised the question as to why plants need two energy-dissipating systems with apparently similar physiological functions. A probably complete plant uncoupling protein gene family is described and the expression profiles of this family compared with the multigene family of alternative oxidases in Arabidopsis thaliana and sugarcane (Saccharum sp.) employed as dicot and monocot models, respectively. In total, six uncoupling protein genes, AtPUMP1-6, were recognized within the Arabidopsis genome and five (SsPUMP1-5) in a sugarcane EST database. The recombinant AtPUMP5 protein displayed similar biochemical properties as AtPUMP1. Sugarcane possessed four Arabidopsis AOx1-type orthologues (SsAOx1a-1d); no sugarcane orthologue corresponding to Arabidopsis AOx2-type genes was identified. Phylogenetic and expression analyses suggested that AtAOx1d does not belong to the AOx1-type family but forms a new (AOx3-type) family. Tissue-enriched expression profiling revealed that uncoupling protein genes were expressed more ubiquitously than the alternative oxidase genes. Distinct expression patterns among gene family members were observed between monocots and dicots and during chilling stress. These findings suggest that the members of each energy-dissipating system are subject to different cell or tissue/organ transcriptional regulation. As a result, plants may respond more flexibly to adverse biotic and abiotic conditions, in which oxidative stress is involved.

Molecular and functional characterization of a Taenia adhesion gene family (TAF) encoding potential protective antigens of Taenia saginata oncospheres.

PubMed

Gonzalez, Luis Miguel; Bonay, Pedro; Benitez, Laura; Ferrer, Elizabeth; Harrison, Leslie J S; Parkhouse, R Michael E; Garate, Teresa

2007-02-01

Two clones from an activated Taenia saginata oncosphere cDNA library, Ts45W and Ts45S, were isolated and sequenced. Both of these genes belong to the Taenia ovis 45W gene family. The Ts45W and Ts45S cDNAs are 997- and 1,004-bp-long, each corresponding to 255 amino acids and with theoretical molecular masses of 27.8 and 27.7 kDa, respectively. Southern blot profiles obtained with Ts45W cDNA as a probe suggest that these two genes are members of a multigene family with tandem organization. The full genomic sequence was determined for the Ts45W gene and a new family member, the Ts45W/2 gene. The genomic sequences of the T. saginata Ts45W and Ts45W/2 genes were at least 2.2 kb in length with four exons separated by three introns. Exons 1 and 4 coded for hydrophobic domains, while, importantly, exons 2 and 3 coded for fibronectin homologous domains. These domains are presumably responsible for the demonstrated cell adhesion and, perhaps, the protective nature of this family of molecules and the acronym TAF (Taenia adhesion family) is proposed for this group of genes. We hypothesize that these TAF proteins and another T. saginata-protective antigen, HP6, have evolved the dual functions of facilitating tissue invasion and stimulating protective immunity to first ensure primary infection and subsequently to establish a concomitant protective immunity to protect the host from death or debilitation through superinfection by subsequent infections and thus help ensure parasite survival.

Natural killer cell receptor genes in the family Equidae: not only Ly49.

PubMed

Futas, Jan; Horin, Petr

2013-01-01

Natural killer (NK) cells have important functions in immunity. NK recognition in mammals can be mediated through killer cell immunoglobulin-like receptors (KIR) and/or killer cell lectin-like Ly49 receptors. Genes encoding highly variable NK cell receptors (NKR) represent rapidly evolving genomic regions. No single conservative model of NKR genes was observed in mammals. Single-copy low polymorphic NKR genes present in one mammalian species may expand into highly polymorphic multigene families in other species. In contrast to other non-rodent mammals, multiple Ly49-like genes appear to exist in the horse, while no functional KIR genes were observed in this species. In this study, Ly49 and KIR were sought and their evolution was characterized in the entire family Equidae. Genomic sequences retrieved showed the presence of at least five highly conserved polymorphic Ly49 genes in horses, asses and zebras. These findings confirmed that the expansion of Ly49 occurred in the entire family. Several KIR-like sequences were also identified in the genome of Equids. Besides a previously identified non-functional KIR-Immunoglobulin-like transcript fusion gene (KIR-ILTA) and two putative pseudogenes, a KIR3DL-like sequence was analyzed. In contrast to previous observations made in the horse, the KIR3DL sequence, genomic organization and mRNA expression suggest that all Equids might produce a functional KIR receptor protein molecule with a single non-mutated immune tyrosine-based inhibition motif (ITIM) domain. No evidence for positive selection in the KIR3DL gene was found. Phylogenetic analysis including rhinoceros and tapir genomic DNA and deduced amino acid KIR-related sequences showed differences between families and even between species within the order Perissodactyla. The results suggest that the order Perissodactyla and its family Equidae with expanded Ly49 genes and with a potentially functional KIR gene may represent an interesting model for evolutionary biology of

Natural Killer Cell Receptor Genes in the Family Equidae: Not only Ly49

PubMed Central

Futas, Jan; Horin, Petr

2013-01-01

Natural killer (NK) cells have important functions in immunity. NK recognition in mammals can be mediated through killer cell immunoglobulin-like receptors (KIR) and/or killer cell lectin-like Ly49 receptors. Genes encoding highly variable NK cell receptors (NKR) represent rapidly evolving genomic regions. No single conservative model of NKR genes was observed in mammals. Single-copy low polymorphic NKR genes present in one mammalian species may expand into highly polymorphic multigene families in other species. In contrast to other non-rodent mammals, multiple Ly49-like genes appear to exist in the horse, while no functional KIR genes were observed in this species. In this study, Ly49 and KIR were sought and their evolution was characterized in the entire family Equidae. Genomic sequences retrieved showed the presence of at least five highly conserved polymorphic Ly49 genes in horses, asses and zebras. These findings confirmed that the expansion of Ly49 occurred in the entire family. Several KIR-like sequences were also identified in the genome of Equids. Besides a previously identified non-functional KIR-Immunoglobulin-like transcript fusion gene (KIR-ILTA) and two putative pseudogenes, a KIR3DL-like sequence was analyzed. In contrast to previous observations made in the horse, the KIR3DL sequence, genomic organization and mRNA expression suggest that all Equids might produce a functional KIR receptor protein molecule with a single non-mutated immune tyrosine-based inhibition motif (ITIM) domain. No evidence for positive selection in the KIR3DL gene was found. Phylogenetic analysis including rhinoceros and tapir genomic DNA and deduced amino acid KIR-related sequences showed differences between families and even between species within the order Perissodactyla. The results suggest that the order Perissodactyla and its family Equidae with expanded Ly49 genes and with a potentially functional KIR gene may represent an interesting model for evolutionary biology of

Sink limitation induces the expression of multiple soybean vegetative lipoxygenase mRNAs while the endogenous jasmonic acid level remains low.

PubMed Central

Bunker, T W; Koetje, D S; Stephenson, L C; Creelman, R A; Mullet, J E; Grimes, H D

1995-01-01

The response of individual members of the lipoxygenase multigene family in soybeans to sink deprivation was analyzed. RNase protection assays indicated that a novel vegetative lipoxygenase gene, vlxC, and three other vegetative lipoxygenase mRNAs accumulated in mature leaves in response to a variety of sink limitations. These data suggest that several members of the lipoxygenase multigene family are involved in assimilate partitioning. The possible involvement of jasmonic acid as a signaling molecule regulating assimilate partitioning into the vegetative storage proteins and lipoxygenases was directly assessed by determining the endogenous level of jasmonic acid in leaves from plants with their pods removed. There was no rise in the level of endogenous jasmonic acid coincident with the strong increase in both vlxC and vegetative storage protein VspB transcripts in response to sink limitation. Thus, expression of the vegetative lipoxygenases and vegetative storage proteins is not regulated by jasmonic acid in sink-limited leaves. PMID:7549487

Sink limitation induces the expression of multiple soybean vegetative lipoxygenase mRNAs while the endogenous jasmonic acid level remains low.

PubMed

Bunker, T W; Koetje, D S; Stephenson, L C; Creelman, R A; Mullet, J E; Grimes, H D

1995-08-01

The response of individual members of the lipoxygenase multigene family in soybeans to sink deprivation was analyzed. RNase protection assays indicated that a novel vegetative lipoxygenase gene, vlxC, and three other vegetative lipoxygenase mRNAs accumulated in mature leaves in response to a variety of sink limitations. These data suggest that several members of the lipoxygenase multigene family are involved in assimilate partitioning. The possible involvement of jasmonic acid as a signaling molecule regulating assimilate partitioning into the vegetative storage proteins and lipoxygenases was directly assessed by determining the endogenous level of jasmonic acid in leaves from plants with their pods removed. There was no rise in the level of endogenous jasmonic acid coincident with the strong increase in both vlxC and vegetative storage protein VspB transcripts in response to sink limitation. Thus, expression of the vegetative lipoxygenases and vegetative storage proteins is not regulated by jasmonic acid in sink-limited leaves.

Building supertrees: an empirical assessment using the grass family (Poaceae).

PubMed

Salamin, Nicolas; Hodkinson, Trevor R; Savolainen, Vincent

2002-02-01

Large and comprehensive phylogenetic trees are desirable for studying macroevolutionary processes and for classification purposes. Such trees can be obtained in two different ways. Either the widest possible range of taxa can be sampled and used in a phylogenetic analysis to produce a "big tree," or preexisting topologies can be used to create a supertree. Although large multigene analyses are often favored, combinable data are not always available, and supertrees offer a suitable solution. The most commonly used method of supertree reconstruction, matrix representation with parsimony (MRP), is presented here. We used a combined data set for the Poaceae to (1) assess the differences between an approach that uses combined data and one that uses different MRP modifications based on the character partitions and (2) investigate the advantages and disadvantages of these modifications. Baum and Ragan and Purvis modifications gave similar results. Incorporating bootstrap support associated with pre-existing topologies improved Baum and Ragan modification and its similarity with a combined analysis. Finally, we used the supertree reconstruction approach on 55 published phylogenies to build one of most comprehensive phylogenetic trees published for the grass family including 403 taxa and discuss its strengths and weaknesses in relation to other published hypotheses.

Intragenome Diversity of Gene Families Encoding Toxin-like Proteins in Venomous Animals.

PubMed

Rodríguez de la Vega, Ricardo C; Giraud, Tatiana

2016-11-01

The evolution of venoms is the story of how toxins arise and of the processes that generate and maintain their diversity. For animal venoms these processes include recruitment for expression in the venom gland, neofunctionalization, paralogous expansions, and functional divergence. The systematic study of these processes requires the reliable identification of the venom components involved in antagonistic interactions. High-throughput sequencing has the potential of uncovering the entire set of toxins in a given organism, yet the existence of non-venom toxin paralogs and the misleading effects of partial census of the molecular diversity of toxins make necessary to collect complementary evidence to distinguish true toxins from their non-venom paralogs. Here, we analyzed the whole genomes of two scorpions, one spider and one snake, aiming at the identification of the full repertoires of genes encoding toxin-like proteins. We classified the entire set of protein-coding genes into paralogous groups and monotypic genes, identified genes encoding toxin-like proteins based on known toxin families, and quantified their expression in both venom-glands and pooled tissues. Our results confirm that genes encoding toxin-like proteins are part of multigene families, and that these families arise by recruitment events from non-toxin genes followed by limited expansions of the toxin-like protein coding genes. We also show that failing to account for sequence similarity with non-toxin proteins has a considerable misleading effect that can be greatly reduced by comparative transcriptomics. Our study overall contributes to the understanding of the evolutionary dynamics of proteins involved in antagonistic interactions. © The Author 2016. Published by Oxford University Press on behalf of the Society for Integrative and Comparative Biology. All rights reserved. For permissions please email: journals.permissions@oup.com.

EXAMINING EVIDENCE IN U.S. PAYER COVERAGE POLICIES FOR MULTI-GENE PANELS AND SEQUENCING TESTS.

PubMed

Chambers, James D; Saret, Cayla J; Anderson, Jordan E; Deverka, Patricia A; Douglas, Michael P; Phillips, Kathryn A

2017-01-01

The aim of this study was to examine the evidence payers cited in their coverage policies for multi-gene panels and sequencing tests (panels), and to compare these findings with the evidence payers cited in their coverage policies for other types of medical interventions. We used the University of California at San Francisco TRANSPERS Payer Coverage Registry to identify coverage policies for panels issued by five of the largest US private payers. We reviewed each policy and categorized the evidence cited within as: clinical studies, systematic reviews, technology assessments, cost-effectiveness analyses (CEAs), budget impact studies, and clinical guidelines. We compared the evidence cited in these coverage policies for panels with the evidence cited in policies for other intervention types (pharmaceuticals, medical devices, diagnostic tests and imaging, and surgical interventions) as reported in a previous study. Fifty-five coverage policies for panels were included. On average, payers cited clinical guidelines in 84 percent of their coverage policies (range, 73-100 percent), clinical studies in 69 percent (50-87 percent), technology assessments 47 percent (33-86 percent), systematic reviews or meta-analyses 31 percent (7-71 percent), and CEAs 5 percent (0-7 percent). No payers cited budget impact studies in their policies. Payers less often cited clinical studies, systematic reviews, technology assessments, and CEAs in their coverage policies for panels than in their policies for other intervention types. Payers cited clinical guidelines in a comparable proportion of policies for panels and other technology types. Payers in our sample less often cited clinical studies and other evidence types in their coverage policies for panels than they did in their coverage policies for other types of medical interventions.

Development of haplotype-specific molecular markers for the low-molecular-weight glutenin subunits

USDA-ARS?s Scientific Manuscript database

Low-molecular-weight glutenin subunits (LMW-GSs) are one of the major components of gluten and their allelic variation has been widely associated with numerous wheat end-use quality parameters. These proteins are encoded by multigene families located at the orthologous Glu-3 loci (Glu-A3, Glu-B3 and...

Genome-wide analysis of the Hsp70 family genes in pepper (Capsicum annuum L.) and functional identification of CaHsp70-2 involvement in heat stress.

PubMed

Guo, Meng; Liu, Jin-Hong; Ma, Xiao; Zhai, Yu-Fei; Gong, Zhen-Hui; Lu, Ming-Hui

2016-11-01

Hsp70s function as molecular chaperones and are encoded by a multi-gene family whose members play a crucial role in plant response to stress conditions, and in plant growth and development. Pepper (Capsicum annuum L.) is an important vegetable crop whose genome has been sequenced. Nonetheless, no overall analysis of the Hsp70 gene family is reported in this crop plant to date. To assess the functionality of Capsicum annuum Hsp70 (CaHsp70) genes, pepper genome database was analyzed in this research. A total of 21 CaHsp70 genes were identified and their characteristics were also described. The promoter and transcript expression analysis revealed that CaHsp70s were involved in pepper growth and development, and heat stress response. Ectopic expression of a cytosolic gene, CaHsp70-2, regulated expression of stress-related genes and conferred increased thermotolerance in transgenic Arabidopsis. Taken together, our results provide the basis for further studied to dissect CaHsp70s' function in response to heat stress as well as other environmental stresses. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Influence of low-molecular-weight glutenin subunit haplotypes on dough rheology in elite common wheat varieties

USDA-ARS?s Scientific Manuscript database

The low molecular weight glutenin subunits (LMW-GSs) are a class of wheat seed storage proteins. They are encoded by a multigene family located at the Glu-3 loci, and their allelic variation strongly influences wheat end-use quality. Due to ambiguities in the LMW-GS allele nomenclature and to the co...

A small multigene hydroxyproline-O-galactosyltransferase family functions in arabinogalactan-protein glycosylation, growth and development in Arabidopsis.

PubMed

Basu, Debarati; Tian, Lu; Wang, Wuda; Bobbs, Shauni; Herock, Hayley; Travers, Andrew; Showalter, Allan M

2015-12-21

Arabinogalactan-proteins (AGPs) are ubiquitous components of cell walls throughout the plant kingdom and are extensively post translationally modified by conversion of proline to hydroxyproline (Hyp) and by addition of arabinogalactan polysaccharides (AG) to Hyp residues. AGPs are implicated to function in various aspects of plant growth and development, but the functional contributions of AGP glycans remain to be elucidated. Hyp glycosylation is initiated by the action of a set of Hyp-O-galactosyltransferase (Hyp-O-GALT) enzymes that remain to be fully characterized. Three members of the GT31 family (GALT3-At3g06440, GALT4-At1g27120, and GALT6-At5g62620) were identified as Hyp-O-GALT genes by heterologous expression in tobacco leaf epidermal cells and examined along with two previously characterized Hyp-O-GALT genes, GALT2 and GALT5. Transcript profiling by real-time PCR of these five Hyp-O-GALTs revealed overlapping but distinct expression patterns. Transiently expressed GALT3, GALT4 and GALT6 fluorescent protein fusions were localized within Golgi vesicles. Biochemical analysis of knock-out mutants for the five Hyp-O-GALT genes revealed significant reductions in both AGP-specific Hyp-O-GALT activity and β-Gal-Yariv precipitable AGPs. Further phenotypic analysis of these mutants demonstrated reduced root hair growth, reduced seed coat mucilage, reduced seed set, and accelerated leaf senescence. The mutants also displayed several conditional phenotypes, including impaired root growth, and defective anisotropic growth of root tips under salt stress, as well as less sensitivity to the growth inhibitory effects of β-Gal-Yariv reagent in roots and pollen tubes. This study provides evidence that all five Hyp-O-GALT genes encode enzymes that catalyze the initial steps of AGP galactosylation and that AGP glycans play essential roles in both vegetative and reproductive plant growth.

EXAMINING EVIDENCE IN U.S. PAYER COVERAGE POLICIES FOR MULTI-GENE PANELS AND SEQUENCING TESTS

PubMed Central

Chambers, James D.; Saret, Cayla J.; Anderson, Jordan E.; Deverka, Patricia A.; Douglas, Michael P.; Phillips, Kathryn A.

2017-01-01

Objectives The aim of this study was to examine the evidence payers cited in their coverage policies for multi-gene panels and sequencing tests (panels), and to compare these findings with the evidence payers cited in their coverage policies for other types of medical interventions. Methods We used the University of California at San Francisco TRANSPERS Payer Coverage Registry to identify coverage policies for panels issued by five of the largest US private payers. We reviewed each policy and categorized the evidence cited within as: clinical studies, systematic reviews, technology assessments, cost-effectiveness analyses (CEAs), budget impact studies, and clinical guidelines. We compared the evidence cited in these coverage policies for panels with the evidence cited in policies for other intervention types (pharmaceuticals, medical devices, diagnostic tests and imaging, and surgical interventions) as reported in a previous study. Results Fifty-five coverage policies for panels were included. On average, payers cited clinical guidelines in 84 percent of their coverage policies (range, 73–100 percent), clinical studies in 69 percent (50–87 percent), technology assessments 47 percent (33–86 percent), systematic reviews or meta-analyses 31 percent (7–71 percent), and CEAs 5 percent (0–7 percent). No payers cited budget impact studies in their policies. Payers less often cited clinical studies, systematic reviews, technology assessments, and CEAs in their coverage policies for panels than in their policies for other intervention types. Payers cited clinical guidelines in a comparable proportion of policies for panels and other technology types. Conclusions Payers in our sample less often cited clinical studies and other evidence types in their coverage policies for panels than they did in their coverage policies for other types of medical interventions. PMID:29065945

Hydra actinoporin-like toxin-1, an unusual hemolysin from the nematocyst venom of Hydra magnipapillata which belongs to an extended gene family.

PubMed

Glasser, Eliezra; Rachamim, Tamar; Aharonovich, Dikla; Sher, Daniel

2014-12-01

Cnidarians rely on their nematocysts and the venom injected through these unique weaponry systems to catch prey and protect themselves from predators. The development and physiology of the nematocysts of Hydra magnipapillata, a classic model organism, have been intensively studied, yet the composition and biochemical activity of their venom components are mostly unknown. Here, we show that hydra actinoporin-like toxins (HALTs), which have previously been associated with Hydra nematocysts, belong to a multigene family comprising six genes, which have diverged from a single common ancestor. All six genes are expressed in a population of Hydra magnipapillata. When expressed recombinantly, HALT-1 (Δ-HYTX-Hma1a), an actinoporin-like protein found in the stenoteles (the main penetrating nematocysts used in prey capture), reveals hemolytic activity, albeit about two-thirds lower than that of the anemone actinoporin equinatoxin II (EqTII, Δ-AITX-Aeq1a). HALT-1 also differs from EqTII in the size of its pores, and likely does not utilize sphingomyelin as a membrane receptor. We describe features of the HALT-1 sequence which may contribute to this difference in activity, and speculate on the role of this unusual family of pore-forming toxins in the ecology of Hydra. Copyright © 2014 Elsevier Ltd. All rights reserved.

PCR-mediated recombination in amplification products derived from polyploid cotton.

Treesearch

Richard C. Cronn; M. Cedroni; T. Haselkorn; C. Grover; Jonathan F. Wendel

2002-01-01

PCR recombination describes a process of in vitro chimera formation from non-identical templates. The key requirements of this process is the inclusion of two partially homologous templates in one reaction, a condition met when amplifying any locus from polyploid organisms and members of multigene families from diploid organisms. Because polyploids possess two or more...

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

PubMed

Patel, N; Khan, A O; Alsahli, S; Abdel-Salam, G; Nowilaty, S R; Mansour, A M; Nabil, A; Al-Owain, M; Sogati, S; Salih, M A; Kamal, A M; Alsharif, H; Alsaif, H S; Alzahrani, S S; Abdulwahab, F; Ibrahim, N; Hashem, M; Faquih, T; Shah, Z A; Abouelhoda, M; Monies, D; Dasouki, M; Shaheen, R; Wakil, S M; Aldahmesh, M A; Alkuraya, F S

2018-06-01

Microphthalmia is a developmental eye defect that is highly variable in severity and in its potential for systemic association. Despite the discovery of many disease genes in microphthalmia, at least 50% of patients remain undiagnosed genetically. Here, we describe a cohort of 147 patients (93 families) from our highly consanguineous population with various forms of microphthalmia (including the distinct entity of posterior microphthalmos) that were investigated using a next-generation sequencing multi-gene panel (i-panel) as well as whole exome sequencing and molecular karyotyping. A potentially causal mutation was identified in the majority of the cohort with microphthalmia (61%) and posterior microphthalmos (82%). The identified mutations (55 point mutations, 15 of which are novel) spanned 24 known disease genes, some of which have not or only very rarely been linked to microphthalmia (PAX6, SLC18A2, DSC3 and CNKSR1). Our study has also identified interesting candidate variants in 2 genes that have not been linked to human diseases (MYO10 and ZNF219), which we present here as novel candidates for microphthalmia. In addition to revealing novel phenotypic aspects of microphthalmia, this study expands its allelic and locus heterogeneity and highlights the need for expanded testing of patients with this condition. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.

PubMed

Simbolo, Michele; Mafficini, Andrea; Agostini, Marco; Pedrazzani, Corrado; Bedin, Chiara; Urso, Emanuele D; Nitti, Donato; Turri, Giona; Scardoni, Maria; Fassan, Matteo; Scarpa, Aldo

2015-01-01

Genetic screening in families with high risk to develop colorectal cancer (CRC) prevents incurable disease and permits personalized therapeutic and follow-up strategies. The advancement of next-generation sequencing (NGS) technologies has revolutionized the throughput of DNA sequencing. A series of 16 probands for either familial adenomatous polyposis (FAP; 8 cases) or hereditary nonpolyposis colorectal cancer (HNPCC; 8 cases) were investigated for intragenic mutations in five CRC familial syndromes-associated genes (APC, MUTYH, MLH1, MSH2, MSH6) applying both a custom multigene Ion AmpliSeq NGS panel and conventional Sanger sequencing. Fourteen pathogenic variants were detected in 13/16 FAP/HNPCC probands (81.3 %); one FAP proband presented two co-existing pathogenic variants, one in APC and one in MUTYH. Thirteen of these 14 pathogenic variants were detected by both NGS and Sanger, while one MSH2 mutation (L280FfsX3) was identified only by Sanger sequencing. This is due to a limitation of the NGS approach in resolving sequences close or within homopolymeric stretches of DNA. To evaluate the performance of our NGS custom panel we assessed its capability to resolve the DNA sequences corresponding to 2225 pathogenic variants reported in the COSMIC database for APC, MUTYH, MLH1, MSH2, MSH6. Our NGS custom panel resolves the sequences where 2108 (94.7 %) of these variants occur. The remaining 117 mutations reside inside or in close proximity to homopolymer stretches; of these 27 (1.2 %) are imprecisely identified by the software but can be resolved by visual inspection of the region, while the remaining 90 variants (4.0 %) are blind spots. In summary, our custom panel would miss 4 % (90/2225) of pathogenic variants that would need a small set of Sanger sequencing reactions to be solved. The multiplex NGS approach has the advantage of analyzing multiple genes in multiple samples simultaneously, requiring only a reduced number of Sanger sequences to resolve

Direct Detection and Differentiation of Pathogenic Leptospira Species Using a Multi-Gene Targeted Real Time PCR Approach

PubMed Central

Ferreira, Ana Sofia; Costa, Pedro; Rocha, Teresa; Amaro, Ana; Vieira, Maria Luísa; Ahmed, Ahmed; Thompson, Gertrude; Hartskeerl, Rudy A.; Inácio, João

2014-01-01

Leptospirosis is a growing public and veterinary health concern caused by pathogenic species of Leptospira. Rapid and reliable laboratory tests for the direct detection of leptospiral infections in animals are in high demand not only to improve diagnosis but also for understanding the epidemiology of the disease. In this work we describe a novel and simple TaqMan-based multi-gene targeted real-time PCR approach able to detect and differentiate Leptospira interrogans, L. kirschneri, L. borgpeteresenii and L. noguchii, which constitute the veterinary most relevant pathogenic species of Leptospira. The method uses sets of species-specific probes, and respective flanking primers, designed from ompL1 and secY gene sequences. To monitor the presence of inhibitors, a duplex amplification assay targeting both the mammal β-actin and the leptospiral lipL32 genes was implemented. The analytical sensitivity of all primer and probe sets was estimated to be <10 genome equivalents (GE) in the reaction mixture. Application of the amplification reactions on genomic DNA from a variety of pathogenic and non-pathogenic Leptospira strains and other non-related bacteria revealed a 100% analytical specificity. Additionally, pathogenic leptospires were successfully detected in five out of 29 tissue samples from animals (Mus spp., Rattus spp., Dolichotis patagonum and Sus domesticus). Two samples were infected with L. borgpetersenii, two with L. interrogans and one with L. kirschneri. The possibility to detect and identify these pathogenic agents to the species level in domestic and wildlife animals reinforces the diagnostic information and will enhance our understanding of the epidemiology of leptopirosis. PMID:25398140

Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test.

PubMed

Shum, Bennett O V; Henner, Ilya; Belluoccio, Daniele; Hinchcliffe, Marcus J

2017-07-01

The sensitivity and specificity of next-generation sequencing laboratory developed tests (LDTs) are typically determined by an analyte-specific approach. Analyte-specific validations use disease-specific controls to assess an LDT's ability to detect known pathogenic variants. Alternatively, a methods-based approach can be used for LDT technical validations. Methods-focused validations do not use disease-specific controls but use benchmark reference DNA that contains known variants (benign, variants of unknown significance, and pathogenic) to assess variant calling accuracy of a next-generation sequencing workflow. Recently, four whole-genome reference materials (RMs) from the National Institute of Standards and Technology (NIST) were released to standardize methods-based validations of next-generation sequencing panels across laboratories. We provide a practical method for using NIST RMs to validate multigene panels. We analyzed the utility of RMs in validating a novel newborn screening test that targets 70 genes, called NEO1. Despite the NIST RM variant truth set originating from multiple sequencing platforms, replicates, and library types, we discovered a 5.2% false-negative variant detection rate in the RM truth set genes that were assessed in our validation. We developed a strategy using complementary non-RM controls to demonstrate 99.6% sensitivity of the NEO1 test in detecting variants. Our findings have implications for laboratories or proficiency testing organizations using whole-genome NIST RMs for testing. Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

Genome-wide Analyses of the Structural Gene Families Involved in the Legume-specific 5-Deoxyisoflavonoid Biosynthesis of Lotus japonicus

PubMed Central

Shimada, Norimoto; Sato, Shusei; Akashi, Tomoyoshi; Nakamura, Yasukazu; Tabata, Satoshi; Ayabe, Shin-ichi; Aoki, Toshio

2007-01-01

Abstract A model legume Lotus japonicus (Regel) K. Larsen is one of the subjects of genome sequencing and functional genomics programs. In the course of targeted approaches to the legume genomics, we analyzed the genes encoding enzymes involved in the biosynthesis of the legume-specific 5-deoxyisoflavonoid of L. japonicus, which produces isoflavan phytoalexins on elicitor treatment. The paralogous biosynthetic genes were assigned as comprehensively as possible by biochemical experiments, similarity searches, comparison of the gene structures, and phylogenetic analyses. Among the 10 biosynthetic genes investigated, six comprise multigene families, and in many cases they form gene clusters in the chromosomes. Semi-quantitative reverse transcriptase–PCR analyses showed coordinate up-regulation of most of the genes during phytoalexin induction and complex accumulation patterns of the transcripts in different organs. Some paralogous genes exhibited similar expression specificities, suggesting their genetic redundancy. The molecular evolution of the biosynthetic genes is discussed. The results presented here provide reliable annotations of the genes and genetic markers for comparative and functional genomics of leguminous plants. PMID:17452423

How do obligate parasites evolve? A multi-gene phylogenetic analysis of downy mildews.

PubMed

Göker, Markus; Voglmayr, Hermann; Riethmüller, Alexandra; Oberwinkler, Franz

2007-02-01

Plant parasitism has independently evolved as a nutrition strategy in both true fungi and Oomycetes (stramenopiles). A large number of species within phytopathogenic Oomycetes, the so-called downy mildews, are defined as obligate biotrophs since they have not, to date, been cultured on any artificial medium. Other genera like Phytophthora and Pythium can in general be cultured on standard or non-standard agar media. Within all three groups there are many important plant pathogens responsible for severe economic losses as well as damage to natural ecosystems. Although they are important model systems to elucidate the evolution of obligate parasites, the phylogenetic relationships between these genera have not been clearly resolved. Based on the most comprehensive sampling of downy mildew genera to date and a representative sample of Phytophthora subgroups, we inferred the phylogenetic relationships from a multi-gene dataset containing both coding and non-coding nuclear and mitochondrial loci. Phylogenetic analyses were conducted under several optimality criteria and the results were largely consistent between all the methods applied. Strong support is achieved for monophyly of a clade comprising both the genus Phytophthora and the obligate biotrophic species. The facultatively parasitic genus Phytophthora is shown to be at least partly paraphyletic. Monophyly of a cluster nested within Phytophthora containing all obligate parasites is strongly supported. Within the obligate biotrophic downy mildews, four morphologically or ecologically well-defined subgroups receive statistical support: (1) A cluster containing all species with brownish-violet conidiosporangia, i.e., the genera Peronospora and Pseudoperonospora; (2) a clade comprising the genera with vesicular to pyriform haustoria (Basidiophora, Benua, Bremia, Paraperonospora, Plasmopara, Plasmoverna, Protobremia); (3) a group containing species included in Hyaloperonospora and Perofascia which almost exclusively

Evidence of intralocus recombination at the Glu-3 loci in bread wheat (Triticum aestivum L.)

USDA-ARS?s Scientific Manuscript database

The low-molecular weight glutenin subunits (LMW-GSs) are a class of wheat seed storage proteins that play a critical role in the determination of wheat flour bread-making quality. These proteins are encoded by multigene families located at the orthologous Glu-3 loci (Glu-A3, Glu-B3 and Glu-D3), on t...

Monolignol radical-radical coupling networks in western red cedar and Arabidopsis and their evolutionary implications

NASA Technical Reports Server (NTRS)

Kim, Myoung K.; Jeon, Jae-Heung; Davin, Laurence B.; Lewis, Norman G.

2002-01-01

The discovery of a nine-member multigene dirigent family involved in control of monolignol radical-radical coupling in the ancient gymnosperm, western red cedar, suggested that a complex multidimensional network had evolved to regulate such processes in vascular plants. Accordingly, in this study, the corresponding promoter regions for each dirigent multigene member were obtained by genome-walking, with Arabidopsis being subsequently transformed to express each promoter fused to the beta-glucuronidase (GUS) reporter gene. It was found that each component gene of the proposed network is apparently differentially expressed in individual tissues, organs and cells at all stages of plant growth and development. The data so obtained thus further support the hypothesis that a sophisticated monolignol radical-radical coupling network exists in plants which has been highly conserved throughout vascular plant evolution.

Convergent evolution, habitat shifts and variable diversification rates in the ovenbird-woodcreeper family (Furnariidae)

PubMed Central

2009-01-01

Background The Neotropical ovenbird-woodcreeper family (Furnariidae) is an avian group characterized by exceptionally diverse ecomorphological adaptations. For instance, members of the family are known to construct nests of a remarkable variety. This offers a unique opportunity to examine whether changes in nest design, accompanied by expansions into new habitats, facilitates diversification. We present a multi-gene phylogeny and age estimates for the ovenbird-woodcreeper family and use these results to estimate the degree of convergent evolution in both phenotype and habitat utilisation. Furthermore, we discuss whether variation in species richness among ovenbird clades could be explained by differences in clade-specific diversification rates, and whether these rates differ among lineages with different nesting habits. In addition, the systematic positions of some enigmatic ovenbird taxa and the postulated monophyly of some species-rich genera are evaluated. Results The phylogenetic results reveal new examples of convergent evolution and show that ovenbirds have independently colonized open habitats at least six times. The calculated age estimates suggest that the ovenbird-woodcreeper family started to diverge at ca 33 Mya, and that the timing of habitat shifts into open environments may be correlated with the aridification of South America during the last 15 My. The results also show that observed large differences in species richness among clades can be explained by a substantial variation in net diversification rates. The synallaxines, which generally are adapted to dry habitats and build exposed vegetative nests, had the highest diversification rate of all major furnariid clades. Conclusion Several key features may have played an important role for the radiation and evolution of convergent phenotypes in the ovenbird-woodcreeper family. Our results suggest that changes in nest building strategy and adaptation to novel habitats may have played an important role

Convergent evolution, habitat shifts and variable diversification rates in the ovenbird-woodcreeper family (Furnariidae).

PubMed

Irestedt, Martin; Fjeldså, Jon; Dalén, Love; Ericson, Per G P

2009-11-21

The Neotropical ovenbird-woodcreeper family (Furnariidae) is an avian group characterized by exceptionally diverse ecomorphological adaptations. For instance, members of the family are known to construct nests of a remarkable variety. This offers a unique opportunity to examine whether changes in nest design, accompanied by expansions into new habitats, facilitates diversification. We present a multi-gene phylogeny and age estimates for the ovenbird-woodcreeper family and use these results to estimate the degree of convergent evolution in both phenotype and habitat utilisation. Furthermore, we discuss whether variation in species richness among ovenbird clades could be explained by differences in clade-specific diversification rates, and whether these rates differ among lineages with different nesting habits. In addition, the systematic positions of some enigmatic ovenbird taxa and the postulated monophyly of some species-rich genera are evaluated. The phylogenetic results reveal new examples of convergent evolution and show that ovenbirds have independently colonized open habitats at least six times. The calculated age estimates suggest that the ovenbird-woodcreeper family started to diverge at ca 33 Mya, and that the timing of habitat shifts into open environments may be correlated with the aridification of South America during the last 15 My. The results also show that observed large differences in species richness among clades can be explained by a substantial variation in net diversification rates. The synallaxines, which generally are adapted to dry habitats and build exposed vegetative nests, had the highest diversification rate of all major furnariid clades. Several key features may have played an important role for the radiation and evolution of convergent phenotypes in the ovenbird-woodcreeper family. Our results suggest that changes in nest building strategy and adaptation to novel habitats may have played an important role in a diversification that

Prediction of response to anti-EGFR antibody-based therapies by multigene sequencing in colorectal cancer patients.

PubMed

Lupini, Laura; Bassi, Cristian; Mlcochova, Jitka; Musa, Gentian; Russo, Marta; Vychytilova-Faltejskova, Petra; Svoboda, Marek; Sabbioni, Silvia; Nemecek, Radim; Slaby, Ondrej; Negrini, Massimo

2015-10-27

The anti-epidermal growth factor receptor (EGFR) monoclonal antibodies (moAbs) cetuximab or panitumumab are administered to colorectal cancer (CRC) patients who harbor wild-type RAS proto-oncogenes. However, a percentage of patients do not respond to this treatment. In addition to mutations in the RAS genes, mutations in other genes, such as BRAF, PI3KCA, or PTEN, could be involved in the resistance to anti-EGFR moAb therapy. In order to develop a comprehensive approach for the detection of mutations and to eventually identify other genes responsible for resistance to anti-EGFR moAbs, we investigated a panel of 21 genes by parallel sequencing on the Ion Torrent Personal Genome Machine platform. We sequenced 65 CRCs that were treated with cetuximab or panitumumab. Among these, 37 samples were responsive and 28 were resistant. We confirmed that mutations in EGFR-pathway genes (KRAS, NRAS, BRAF, PI3KCA) were relevant for conferring resistance to therapy and could predict response (p = 0.001). After exclusion of KRAS, NRAS, BRAF and PI3KCA combined mutations could still significantly associate to resistant phenotype (p = 0.045, by Fisher exact test). In addition, mutations in FBXW7 and SMAD4 were prevalent in cases that were non-responsive to anti-EGFR moAb. After we combined the mutations of all genes (excluding KRAS), the ability to predict response to therapy improved significantly (p = 0.002, by Fisher exact test). The combination of mutations at KRAS and at the five gene panel demonstrates the usefulness and feasibility of multigene sequencing to assess response to anti-EGFR moAbs. The application of parallel sequencing technology in clinical practice, in addition to its innate ability to simultaneously examine the genetic status of several cancer genes, proved to be more accurate and sensitive than the presently in use traditional approaches.

Multi-Gene Analysis Reveals a Lack of Genetic Divergence between Calanus agulhensis and C. sinicus (Copepoda; Calanoida)

PubMed Central

Kozol, Robert; Blanco-Bercial, Leocadio; Bucklin, Ann

2012-01-01

The discrimination and taxonomic identification of marine species continues to pose a challenge despite the growing number of diagnostic metrics and approaches. This study examined the genetic relationship between two sibling species of the genus Calanus (Crustacea; Copepoda; Calanidae), C. agulhensis and C. sinicus, using a multi-gene analysis. DNA sequences were determined for portions of the mitochondrial cytochrome c oxidase I (mtCOI); nuclear citrate synthase (CS), and large subunit (28S) rRNA genes for specimens collected from the Sea of Japan and North East (NE) Pacific Ocean for C. sinicus and from the Benguela Current and Agulhas Bank, off South Africa, for C. agulhensis. For mtCOI, C. sinicus and C. agulhensis showed similar levels of haplotype diversity (Hd = 0.695 and 0.660, respectively) and nucleotide diversity (π = 0.003 and 0.002, respectively). Pairwise FST distances for mtCOI were significant only between C. agulhensis collected from the Agulhas and two C. sinicus populations: the Sea of Japan (FST = 0.152, p<0.01) and NE Pacific (FST = 0.228, p<0.005). Between the species, FST distances were low for both mtCOI (FST = 0.083, p = 0.003) and CS (FST = 0.050, p = 0.021). Large subunit (28S) rRNA showed no variation between the species. Our results provide evidence of the lack of genetic distinction of C. sinicus and C. agulhensis, raise questions of whether C. agulhensis warrants status as a distinct species, and indicate the clear need for more intensive and extensive ecological and genetic analysis. PMID:23118849

Los1p, involved in yeast pre-tRNA splicing, positively regulates members of the SOL gene family.

PubMed

Shen, W C; Stanford, D R; Hopper, A K

1996-06-01

To understand the role of Los1p in pre-tRNA splicing, we sought los1 multicopy suppressors. We found SOL1 that suppresses both point and null LOS1 mutations. Since, when fused to the Ga14p DNA-binding domain, Los1p activates transcription, we tested whether Los1p regulates SOL1. We found that las1 mutants have depleted levels of SOL1 mRNA and Sol1p. Thus, LOS1 appears to positively regulate SOL1. SOL1 belongs to a multigene family with at least two additional members, SOL2 and SOL3. Sol proteins have extensive similarity to an unusual group of glucose-6-phosphate dehydrogenases. As the similarities are restricted to areas separate from the catalytic domain, these G6PDs may have more than one function. The SOL family appears to be unessential since cells with a triple disruption of all three SOL genes are viable. SOL gene disruptions negatively affect tRNA-mediated nonsense suppression and the severity increases with the number of mutant SOL genes. However, tRNA levels do not vary with either multicopy SOL genes or with SOL disruptions. Therefore, the Sol proteins affect tRNA expression/ function at steps other than transcription or splicing. We propose that LOS1 regulates gene products involved in tRNA expression/function as well as pre-tRNA splicing.

Analysis and expression of the alpha-expansin and beta-expansin gene families in maize

NASA Technical Reports Server (NTRS)

Wu, Y.; Meeley, R. B.; Cosgrove, D. J.

2001-01-01

Expansins comprise a multigene family of proteins in maize (Zea mays). We isolated and characterized 13 different maize expansin cDNAs, five of which are alpha-expansins and eight of which are beta-expansins. This paper presents an analysis of these 13 expansins, as well as an expression analysis by northern blotting with materials from young and mature maize plants. Some expansins were expressed in restricted regions, such as the beta-expansins ExpB1 (specifically expressed in maize pollen) and ExpB4 (expressed principally in young husks). Other expansins such as alpha-expansin Exp1 and beta-expansin ExpB2 were expressed in several organs. The expression of yet a third group was not detected in the selected organs and tissues. An analysis of expansin sequences from the maize expressed sequence tag collection is also presented. Our results indicate that expansin genes may have general, overlapping expression in some instances, whereas in other cases the expression may be highly specific and limited to a single organ or cell type. In contrast to the situation in Arabidopsis, beta-expansins in maize seem to be more numerous and more highly expressed than are alpha-expansins. The results support the concept that beta-expansins multiplied and evolved special functions in the grasses.

A member of the Tlr family is involved in dsRNA innate immune response in Paracentrotus lividus sea urchin.

PubMed

Russo, Roberta; Chiaramonte, Marco; Matranga, Valeria; Arizza, Vincenzo

2015-08-01

The innate immune response involves proteins such as the membrane receptors of the Toll-like family (TLRs), which trigger different intracellular signalling pathways that are dependent on specific stimulating molecules. In sea urchins, TLR proteins are encoded by members of a large multigenic family composed of 60-250 genes in different species. Here, we report a newly identified mRNA sequence encoding a TLR protein (referred to as Pl-Tlr) isolated from Paracentrotus lividus immune cells. The partial protein sequence contained the conserved Toll/IL-1 receptor (TIR) domain, the transmembrane domain and part of the leucine repeats. Phylogenetic analysis of the Pl-Tlr protein was accomplished by comparing its sequence with those of TLRs from different classes of vertebrates and invertebrates. This analysis was suggestive of an evolutionary path that most likely represented the course of millions of years, starting from simple organisms and extending to humans. Challenge of the sea urchin immune system with poly-I:C, a chemical compound that mimics dsRNA, caused time-dependent Pl-Tlr mRNA up-regulation that was detected by QPCR. In contrast, bacterial LPS injury did not affect Pl-Tlr transcription. The study of the Tlr genes in the sea urchin model system may provide new perspectives on the role of Tlrs in the invertebrate immune response and clues concerning their evolution in a changing world. Copyright © 2015 Elsevier Ltd. All rights reserved.

Comparative genomic and proteomic analyses of PE/PPE multigene family of Mycobacterium tuberculosis H37Rv and H37Ra reveal novel and interesting differences with implications in virulence

PubMed Central

Kohli, Sakshi; Singh, Yadvir; Sharma, Khushbu; Mittal, Aditya; Ehtesham, Nasreen Z.; Hasnain, Seyed E.

2012-01-01

Tuberculosis, caused by Mycobacterium tuberculosis, remains a leading infectious disease taking one human life every 15 s globally. The two well-characterized strains H37Rv and H37Ra, derived from the same parental strain M. tuberculosis H37, show dramatically different pathogenic phenotypes. PE/PPE gene family, comprising of 176 open reading frames and present exclusively in genus Mycobacterium, accounts for ∼10% of the M. tuberculosis genome. Our comprehensive in silico analyses of PE/PPE family of H37Ra and virulent H37Rv strains revealed genetic differences between these strains in terms of several single nucleotide variations and InDels and these manifested in changes in physico-chemical properties, phosphorylation sites, and protein: protein interacting domains of the corresponding proteomes. Similar comparisons using the 13 sigma factor genes, 36 members of the mammalian cell entry family, 13 mycobacterial membrane protein large family members and 11 two-component signal transduction systems along with 5 orphaned response regulators and 2 orphaned sensor kinases failed to reveal very significant difference between H37Rv and H37Ra, reinforcing the importance of PE/PPE genes. Many of these changes between H37Rv and H37Ra can be correlated to differences in pathogenesis and virulence of the two strains. PMID:22618876

Sequence Comparisons of Odorant Receptors among Tortricid Moths Reveal Different Rates of Molecular Evolution among Family Members

PubMed Central

Carraher, Colm; Authier, Astrid; Steinwender, Bernd; Newcomb, Richard D.

2012-01-01

In insects, odorant receptors detect volatile cues involved in behaviours such as mate recognition, food location and oviposition. We have investigated the evolution of three odorant receptors from five species within the moth genera Ctenopseustis and Planotrotrix, family Tortricidae, which fall into distinct clades within the odorant receptor multigene family. One receptor is the orthologue of the co-receptor Or83b, now known as Orco (OR2), and encodes the obligate ion channel subunit of the receptor complex. In comparison, the other two receptors, OR1 and OR3, are ligand-binding receptor subunits, activated by volatile compounds produced by plants - methyl salicylate and citral, respectively. Rates of sequence evolution at non-synonymous sites were significantly higher in OR1 compared with OR2 and OR3. Within the dataset OR1 contains 109 variable amino acid positions that are distributed evenly across the entire protein including transmembrane helices, loop regions and termini, while OR2 and OR3 contain 18 and 16 variable sites, respectively. OR2 shows a high level of amino acid conservation as expected due to its essential role in odour detection; however we found unexpected differences in the rate of evolution between two ligand-binding odorant receptors, OR1 and OR3. OR3 shows high sequence conservation suggestive of a conserved role in odour reception, whereas the higher rate of evolution observed in OR1, particularly at non-synonymous sites, may be suggestive of relaxed constraint, perhaps associated with the loss of an ancestral role in sex pheromone reception. PMID:22701634

Countering Terrorist Ideologies: A Rational Actor and Game Theoretic Analysis of De-Radicalization Programs for Al-Jemaah Al-Islamiyah Prisoners in Singapore and Indonesia

DTIC Science & Technology

2008-12-01

University of Michigan Press. 116 Ba’aysir, A. B. ( 2008 ). Abu Bakar Bas’yir sermon. Retrieved April 25, 2008 , from http://www.abc.net.au/4corners...Behrend, T. (2003). Reading past the myth: public teachings of Abu Bakar Ba’asyir. Retrieved June 1, 2008 , from www.arts.auckland.ac.nz Berger, M. T...ideology as it developed during founders Abdullah Sungkar and Abu Bakar Ba’asyir’s own radicalization, and the dynamics of group identity, trust, and

The western red cedar (Thuja plicata) 8-8' DIRIGENT family displays diverse expression patterns and conserved monolignol coupling specificity

NASA Technical Reports Server (NTRS)

Kim, Myoung K.; Jeon, Jae-Heung; Fujita, Masayuki; Davin, Laurence B.; Lewis, Norman G.

2002-01-01

The isolation and characterization of a multigene family of the first class of dirigent proteins (namely that mainly involved in 8-8' coupling leading to (+)-pinoresinol in this case) is reported, this comprising of nine western red cedar (Thuja plicata) DIRIGENT genes (DIR1-9) of 72-99.5% identity to each other. Their corresponding cDNA clones had coding regions for 180-183 amino acids with each having a predicted molecular mass of ca. 20 kDa including the signal peptide. Real time-PCR established that the DIRIGENT isovariants were differentially expressed during growth and development of T. plicata (P < 0.05). The phylogenetic relationships and the rates and patterns of nucleotide substitution suggest that the DIRIGENT gene may have evolved via paralogous expansion at an early stage of vascular plant diversification. Thereafter, western red cedar paralogues have maintained an high homogeneity presumably via a concerted evolutionary mode. This, in turn, is assumed to be the driving force for the differential formation of 8-8'-linked pinoresinol derived (poly)lignans in the needles, stems, bark and branches, as well as for massive accumulation of 8-8'-linked plicatic acid-derived (poly)lignans in heartwood.

Structure of a Berberine Bridge Enzyme-Like Enzyme with an Active Site Specific to the Plant Family Brassicaceae.

PubMed

Daniel, Bastian; Wallner, Silvia; Steiner, Barbara; Oberdorfer, Gustav; Kumar, Prashant; van der Graaff, Eric; Roitsch, Thomas; Sensen, Christoph W; Gruber, Karl; Macheroux, Peter

2016-01-01

Berberine bridge enzyme-like (BBE-like) proteins form a multigene family (pfam 08031), which is present in plants, fungi and bacteria. They adopt the vanillyl alcohol-oxidase fold and predominantly show bi-covalent tethering of the FAD cofactor to a cysteine and histidine residue, respectively. The Arabidopsis thaliana genome was recently shown to contain genes coding for 28 BBE-like proteins, while featuring four distinct active site compositions. We determined the structure of a member of the AtBBE-like protein family (termed AtBBE-like 28), which has an active site composition that has not been structurally and biochemically characterized thus far. The most salient and distinguishing features of the active site found in AtBBE-like 28 are a mono-covalent linkage of a histidine to the 8α-position of the flavin-isoalloxazine ring and the lack of a second covalent linkage to the 6-position, owing to the replacement of a cysteine with a histidine. In addition, the structure reveals the interaction of a glutamic acid (Glu426) with an aspartic acid (Asp369) at the active site, which appear to share a proton. This arrangement leads to the delocalization of a negative charge at the active site that may be exploited for catalysis. The structure also indicates a shift of the position of the isoalloxazine ring in comparison to other members of the BBE-like family. The dioxygen surrogate chloride was found near the C(4a) position of the isoalloxazine ring in the oxygen pocket, pointing to a rapid reoxidation of reduced enzyme by dioxygen. A T-DNA insertional mutant line for AtBBE-like 28 results in a phenotype, that is characterized by reduced biomass and lower salt stress tolerance. Multiple sequence analysis showed that the active site composition found in AtBBE-like 28 is only present in the Brassicaceae, suggesting that it plays a specific role in the metabolism of this plant family.

Molecular evolution of the clustered MMIC-3 multigene family of Gossypium species

USDA-ARS?s Scientific Manuscript database

Uniqueness, content, localization, and defense-related features of the root-knot nematode resistance-associated MIC-3 supergene cluster in the genus Gossypium are all of interest for molecular evolutionary studies of duplicate supergenes in allopolyploids. Here we report molecular evolutionary rates...

DOE Office of Scientific and Technical Information (OSTI.GOV)

Voßwinkel, Daniel; Heletta, Lukas; Hoffmann, Rolf-Dieter

The YIrGe{sub 2} type ternary germanides RERhGe{sub 2} (RE = Y, Gd-Ho) were synthesized from the elements by arc-melting and characterized by powder X-ray diffraction. The structure of DyRhGe{sub 2} was refined from single crystal X-ray diffractometer data: Immm, a = 426.49(9), b = 885.0(2), c = 1577.4(3) pm, wR2 = 0.0533, 637 F{sup 2} values, 30 variables (300 K data). The structure contains two crystallographically independent dysprosium atoms in pentagonal prismatic and hexagonal prismatic coordination. The three-dimensional [RhGe{sub 2}] polyanion is stabilized through covalent Rh–Ge (243–261 pm) and Ge–Ge (245–251 pm) bonding. The close structural relationship with the slightlymore » rhodium-poorer germanides RE{sub 5}Rh{sub 4}Ge{sub 10} (≡ RERh{sub 0.8}Ge{sub 2}) is discussed. Temperature-dependent magnetic susceptibility measurements reveal Pauli paramagnetism for YRhGe{sub 2} and Curie-Weiss paramagnetism for RERhGe{sub 2} with RE = Gd, Tb, Dy and Ho. These germanides order antiferromagnetically at T{sub N} = 7.2(5), 10.6(5), 8.1(5), and 6.4(5) K, respectively. - Graphical abstract: The germanides RERhGe{sub 2} (RE = Y, Gd-Ho) are new representatives of the YIrGe{sub 2} type.« less

Large-scale chromatin remodeling at the immunoglobulin heavy chain locus: a paradigm for multigene regulation.

PubMed

Bolland, Daniel J; Wood, Andrew L; Corcoran, Anne E

2009-01-01

V(D)J recombination in lymphocytes is the cutting and pasting together of antigen receptor genes in cis to generate the enormous variety of coding sequences required to produce diverse antigen receptor proteins. It is the key role of the adaptive immune response, which must potentially combat millions of different foreign antigens. Most antigen receptor loci have evolved to be extremely large and contain multiple individual V, D and J genes. The immunoglobulin heavy chain (Igh) and immunoglobulin kappa light chain (Igk) loci are the largest multigene loci in the mammalian genome and V(D)J recombination is one of the most complicated genetic processes in the nucleus. The challenge for the appropriate lymphocyte is one of macro-management-to make all of the antigen receptor genes in a particular locus available for recombination at the appropriate developmental time-point. Conversely, these large loci must be kept closed in lymphocytes in which they do not normally recombine, to guard against genomic instability generated by the DNA double strand breaks inherent to the V(D)J recombination process. To manage all of these demanding criteria, V(D)J recombination is regulated at numerous levels. It is restricted to lymphocytes since the Rag genes which control the DNA double-strand break step of recombination are only expressed in these cells. Within the lymphocyte lineage, immunoglobulin recombination is restricted to B-lymphocytes and TCR recombination to T-lymphocytes by regulation of locus accessibility, which occurs at multiple levels. Accessibility of recombination signal sequences (RSSs) flanking individual V, D and J genes at the nucleosomal level is the key micro-management mechanism, which is discussed in greater detail in other chapters. This chapter will explore how the antigen receptor loci are regulated as a whole, focussing on the Igh locus as a paradigm for the mechanisms involved. Numerous recent studies have begun to unravel the complex and

Investigating a multigene prognostic assay based on significant pathways for Luminal A breast cancer through gene expression profile analysis.

PubMed

Gao, Haiyan; Yang, Mei; Zhang, Xiaolan

2018-04-01

The present study aimed to investigate potential recurrence-risk biomarkers based on significant pathways for Luminal A breast cancer through gene expression profile analysis. Initially, the gene expression profiles of Luminal A breast cancer patients were downloaded from The Cancer Genome Atlas database. The differentially expressed genes (DEGs) were identified using a Limma package and the hierarchical clustering analysis was conducted for the DEGs. In addition, the functional pathways were screened using Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses and rank ratio calculation. The multigene prognostic assay was exploited based on the statistically significant pathways and its prognostic function was tested using train set and verified using the gene expression data and survival data of Luminal A breast cancer patients downloaded from the Gene Expression Omnibus. A total of 300 DEGs were identified between good and poor outcome groups, including 176 upregulated genes and 124 downregulated genes. The DEGs may be used to effectively distinguish Luminal A samples with different prognoses verified by hierarchical clustering analysis. There were 9 pathways screened as significant pathways and a total of 18 DEGs involved in these 9 pathways were identified as prognostic biomarkers. According to the survival analysis and receiver operating characteristic curve, the obtained 18-gene prognostic assay exhibited good prognostic function with high sensitivity and specificity to both the train and test samples. In conclusion the 18-gene prognostic assay including the key genes, transcription factor 7-like 2, anterior parietal cortex and lymphocyte enhancer factor-1 may provide a new method for predicting outcomes and may be conducive to the promotion of precision medicine for Luminal A breast cancer.

Functional diversity of secreted cestode Kunitz proteins: Inhibition of serine peptidases and blockade of cation channels

PubMed Central

Fló, Martín; Margenat, Mariana; Pellizza, Leonardo; Durán, Rosario; Salceda, Emilio; Alvarez, Beatriz

2017-01-01

We previously reported a multigene family of monodomain Kunitz proteins from Echinococcus granulosus (EgKU-1-EgKU-8), and provided evidence that some EgKUs are secreted by larval worms to the host interface. In addition, functional studies and homology modeling suggested that, similar to monodomain Kunitz families present in animal venoms, the E. granulosus family could include peptidase inhibitors as well as channel blockers. Using enzyme kinetics and whole-cell patch-clamp, we now demonstrate that the EgKUs are indeed functionally diverse. In fact, most of them behaved as high affinity inhibitors of either chymotrypsin (EgKU-2-EgKU-3) or trypsin (EgKU-5-EgKU-8). In contrast, the close paralogs EgKU-1 and EgKU-4 blocked voltage-dependent potassium channels (Kv); and also pH-dependent sodium channels (ASICs), while showing null (EgKU-1) or marginal (EgKU-4) peptidase inhibitory activity. We also confirmed the presence of EgKUs in secretions from other parasite stages, notably from adult worms and metacestodes. Interestingly, data from genome projects reveal that at least eight additional monodomain Kunitz proteins are encoded in the genome; that particular EgKUs are up-regulated in various stages; and that analogous Kunitz families exist in other medically important cestodes, but not in trematodes. Members of this expanded family of secreted cestode proteins thus have the potential to block, through high affinity interactions, the function of host counterparts (either peptidases or cation channels) and contribute to the establishment and persistence of infection. From a more general perspective, our results confirm that multigene families of Kunitz inhibitors from parasite secretions and animal venoms display a similar functional diversity and thus, that host-parasite co-evolution may also drive the emergence of a new function associated with the Kunitz scaffold. PMID:28192542

The evolution of autodigestion in the mushroom family Psathyrellaceae (Agaricales) inferred from Maximum Likelihood and Bayesian methods.

PubMed

Nagy, László G; Urban, Alexander; Orstadius, Leif; Papp, Tamás; Larsson, Ellen; Vágvölgyi, Csaba

2010-12-01

Recently developed comparative phylogenetic methods offer a wide spectrum of applications in evolutionary biology, although it is generally accepted that their statistical properties are incompletely known. Here, we examine and compare the statistical power of the ML and Bayesian methods with regard to selection of best-fit models of fruiting-body evolution and hypothesis testing of ancestral states on a real-life data set of a physiological trait (autodigestion) in the family Psathyrellaceae. Our phylogenies are based on the first multigene data set generated for the family. Two different coding regimes (binary and multistate) and two data sets differing in taxon sampling density are examined. The Bayesian method outperformed Maximum Likelihood with regard to statistical power in all analyses. This is particularly evident if the signal in the data is weak, i.e. in cases when the ML approach does not provide support to choose among competing hypotheses. Results based on binary and multistate coding differed only modestly, although it was evident that multistate analyses were less conclusive in all cases. It seems that increased taxon sampling density has favourable effects on inference of ancestral states, while model parameters are influenced to a smaller extent. The model best fitting our data implies that the rate of losses of deliquescence equals zero, although model selection in ML does not provide proper support to reject three of the four candidate models. The results also support the hypothesis that non-deliquescence (lack of autodigestion) has been ancestral in Psathyrellaceae, and that deliquescent fruiting bodies represent the preferred state, having evolved independently several times during evolution. Copyright © 2010 Elsevier Inc. All rights reserved.

New genes and new biological roles for expansins

NASA Technical Reports Server (NTRS)

Cosgrove, D. J.

2000-01-01

Expansins are extracellular proteins that loosen plant cell walls in novel ways. They are thought to function in cell enlargement, pollen tube invasion of the stigma (in grasses), wall disassembly during fruit ripening, abscission and other cell separation events. Expansins are encoded by two multigene families and each gene is often expressed in highly specific locations and cell types. Structural analysis indicates that one expansin region resembles the catalytic domain of family-45 endoglucanases but glucanase activity has not been detected. The genome projects have revealed numerous expansin-related sequences but their putative wall-loosening functions remain to be assessed.

The cellular transcription factor CREB corresponds to activating transcription factor 47 (ATF-47) and forms complexes with a group of polypeptides related to ATF-43.

PubMed

Hurst, H C; Masson, N; Jones, N C; Lee, K A

1990-12-01

Promoter elements containing the sequence motif CGTCA are important for a variety of inducible responses at the transcriptional level. Multiple cellular factors specifically bind to these elements and are encoded by a multigene family. Among these factors, polypeptides termed activating transcription factor 43 (ATF-43) and ATF-47 have been purified from HeLa cells and a factor referred to as cyclic AMP response element-binding protein (CREB) has been isolated from PC12 cells and rat brain. We demonstrated that CREB and ATF-47 are identical and that CREB and ATF-43 form protein-protein complexes. We also found that the cis requirements for stable DNA binding by ATF-43 and CREB are different. Using antibodies to ATF-43 we have identified a group of polypeptides (ATF-43) in the size range from 40 to 43 kDa. ATF-43 polypeptides are related by their reactivity with anti-ATF-43, DNA-binding specificity, complex formation with CREB, heat stability, and phosphorylation by protein kinase A. Certain cell types vary in their ATF-43 complement, suggesting that CREB activity is modulated in a cell-type-specific manner through interaction with ATF-43. ATF-43 polypeptides do not appear simply to correspond to the gene products of the ATF multigene family, suggesting that the size of the ATF family at the protein level is even larger than predicted from cDNA-cloning studies.

Early evolutionary colocalization of the nuclear ribosomal 5S and 45S gene families in seed plants: evidence from the living fossil gymnosperm Ginkgo biloba.

PubMed

Galián, J A; Rosato, M; Rosselló, J A

2012-06-01

In seed plants, the colocalization of the 5S loci within the intergenic spacer (IGS) of the nuclear 45S tandem units is restricted to the phylogenetically derived Asteraceae family. However, fluorescent in situ hybridization (FISH) colocalization of both multigene families has also been observed in other unrelated seed plant lineages. Previous work has identified colocalization of 45S and 5S loci in Ginkgo biloba using FISH, but these observations have not been confirmed recently by sequencing a 1.8 kb IGS. In this work, we report the presence of the 45S-5S linkage in G. biloba, suggesting that in seed plants the molecular events leading to the restructuring of the ribosomal loci are much older than estimated previously. We obtained a 6.0 kb IGS fragment showing structural features of functional sequences, and a single copy of the 5S gene was inserted in the same direction of transcription as the ribosomal RNA genes. We also obtained a 1.8 kb IGS that was a truncate variant of the 6.0 kb IGS lacking the 5S gene. Several lines of evidence strongly suggest that the 1.8 kb variants are pseudogenes that are present exclusively on the satellite chromosomes bearing the 45S-5S genes. The presence of ribosomal IGS pseudogenes best reconciles contradictory results concerning the presence or absence of the 45S-5S linkage in Ginkgo. Our finding that both ribosomal gene families have been unified to a single 45S-5S unit in Ginkgo indicates that an accurate reassessment of the organization of rDNA genes in basal seed plants is necessary.

Gourds afloat: a dated phylogeny reveals an Asian origin of the gourd family (Cucurbitaceae) and numerous oversea dispersal events

PubMed Central

Schaefer, Hanno; Heibl, Christoph; Renner, Susanne S.

2008-01-01

Knowing the geographical origin of economically important plants is important for genetic improvement and conservation, but has been slowed by uneven geographical sampling where relatives occur in remote areas of difficult access. Less biased species sampling can be achieved when herbarium collections are included as DNA sources. Here, we address the history of Cucurbitaceae, one of the most economically important families of plants, using a multigene phylogeny for 114 of the 115 genera and 25 per cent of the 960 species. Worldwide sampling was achieved by using specimens from 30 herbaria. Results reveal an Asian origin of Cucurbitaceae in the Late Cretaceous, followed by the repeated spread of lineages into the African, American and Australian continents via transoceanic long-distance dispersal (LDD). North American cucurbits stem from at least seven range expansions of Central and South American lineages; Madagascar was colonized 13 times, always from Africa; Australia was reached 12 times, apparently always from Southeast Asia. Overall, Cucurbitaceae underwent at least 43 successful LDD events over the past 60 Myr, which would translate into an average of seven LDDs every 10 Myr. These and similar findings from other angiosperms stress the need for an increased tapping of museum collections to achieve extensive geographical sampling in plant phylogenetics. PMID:19033142

Changes in Neuronal Signaling and Cell Stress Response Pathways are Associated with a Multigenic Response of Drosophila melanogaster to DDT Selection

PubMed Central

Coates, Brad S; Sun, Weilin; Clark, John M; Pittendrigh, Barry R

2017-01-01

Abstract The adaptation of insect populations to insecticidal control is a continual threat to human health and sustainable agricultural practices, but many complex genomic mechanisms involved in this adaption remain poorly understood. This study applied a systems approach to investigate the interconnections between structural and functional variance in response to dichlorodiphenyltrichloroethane (DDT) within the Drosophila melanogaster strain 91-R. Directional selection in 6 selective sweeps coincided with constitutive gene expression differences in DDT resistant flies, including the most highly upregulated transcript, Unc-115 b, which plays a central role in axon guidance, and the most highly downregulated transcript, the angiopoietin-like CG31832, which is involved in directing vascular branching and dendrite outgrowth but likely may be under trans-regulatory control. Direct functions and protein–protein interactions mediated by differentially expressed transcripts control changes in cell migration, signal transduction, and gene regulatory cascades that impact the nervous system. Although changes to cellular stress response pathways involve 8 different cytochrome P450s, stress response, and apoptosis is controlled by a multifacetted regulatory mechanism. These data demonstrate that DDT selection in 91-R may have resulted in genome-wide adaptations that impacts genetic and signal transduction pathways that converge to modify stress response, cell survival, and neurological functions. This study implicates the involvement of a multigenic mechanism in the adaptation to a chemical insecticide, which impact interconnected regulatory cascades. We propose that DDT selection within 91-R might act systemically, wherein pathway interactions function to reinforce the epistatic effects of individual adaptive changes on an additive or nonadditive basis. PMID:29211847

Building a multigenic model of breast cancer susceptibility: CYP17 and HSD17B1 are two important candidates.

PubMed

Feigelson, H S; McKean-Cowdin, R; Coetzee, G A; Stram, D O; Kolonel, L N; Henderson, B E

2001-01-15

We conducted a nested case-control study to evaluate whether polymorphisms in two genes involved in estrogen metabolism, CYP17 and HSD17B1, were useful in developing a breast cancer risk model that could help discriminate women who are at higher risk of breast cancer. If polymorphisms in these genes affect the level of circulating estrogens, they may directly influence breast cancer risk. The base population for this study is a multiethnic cohort study that includes African-American, Non-Latina White, Japanese, Latina, and Native Hawaiian women. For this analysis, 1508 randomly selected controls and 850 incident breast cancer cases of the first four ethnic groups who agreed to provide a blood specimen were included (76 and 80% response rates, respectively). The CYP17 A2 allele and the HSD17B1 A allele were considered "high-risk" alleles. Subjects were then classified according to number of high-risk alleles. After adjusting for age, weight, and ethnicity, we found that carrying one or more high-risk alleles increases the risk of advanced breast cancer in a dose-response fashion. The risk among women carrying four high-risk alleles was 2.21 [95% confidence interval (CI), 0.98-5.00; P for trend = 0.03] compared with those who carried none. This risk was largely limited to women who were not taking hormone replacement therapy (relative risk, 2.60; 95% CI, 0.95-7.14) and was most pronounced among those weighing 170 pounds or less (RR, 3.05; 95% CI, 1.29-7.25). These findings suggest that breast cancer risk has a strong genetic component and supports the theory that the underlying mechanism of "complex traits" can be understood using a multigenic model of candidate genes.

The Cohesive Population Genetics of Molecular Drive

PubMed Central

Ohta, Tomoko; Dover, Gabriel A.

1984-01-01

The long-term population genetics of multigene families is influenced by several biased and unbiased mechanisms of nonreciprocal exchanges (gene conversion, unequal exchanges, transposition) between member genes, often distributed on several chromosomes. These mechanisms cause fluctuations in the copy number of variant genes in an individual and lead to a gradual replacement of an original family of n genes (A) in N number of individuals by a variant gene (a). The process for spreading a variant gene through a family and through a population is called molecular drive. Consideration of the known slow rates of nonreciprocal exchanges predicts that the population variance in the copy number of gene a per individual is small at any given generation during molecular drive. Genotypes at a given generation are expected only to range over a small section of all possible genotypes from one extreme (n number of A) to the other (n number of a). A theory is developed for estimating the size of the population variance by using the concept of identity coefficients. In particular, the variance in the course of spreading of a single mutant gene of a multigene family was investigated in detail, and the theory of identity coefficients at the state of steady decay of genetic variability proved to be useful. Monte Carlo simulations and numerical analysis based on realistic rates of exchange in families of known size reveal the correctness of the theoretical prediction and also assess the effect of bias in turnover. The population dynamics of molecular drive in gradually increasing the mean copy number of a variant gene without the generation of a large variance (population cohesion) is of significance regarding potential interactions between natural selection and molecular drive. PMID:6500260

The cohesive population genetics of molecular drive.

PubMed

Ohta, T; Dover, G A

1984-10-01

The long-term population genetics of multigene families is influenced by several biased and unbiased mechanisms of nonreciprocal exchanges (gene conversion, unequal exchanges, transposition) between member genes, often distributed on several chromosomes. These mechanisms cause fluctuations in the copy number of variant genes in an individual and lead to a gradual replacement of an original family of n genes (A) in N number of individuals by a variant gene (a). The process for spreading a variant gene through a family and through a population is called molecular drive. Consideration of the known slow rates of nonreciprocal exchanges predicts that the population variance in the copy number of gene a per individual is small at any given generation during molecular drive. Genotypes at a given generation are expected only to range over a small section of all possible genotypes from one extreme (n number of A) to the other (n number of a). A theory is developed for estimating the size of the population variance by using the concept of identity coefficients. In particular, the variance in the course of spreading of a single mutant gene of a multigene family was investigated in detail, and the theory of identity coefficients at the state of steady decay of genetic variability proved to be useful. Monte Carlo simulations and numerical analysis based on realistic rates of exchange in families of known size reveal the correctness of the theoretical prediction and also assess the effect of bias in turnover. The population dynamics of molecular drive in gradually increasing the mean copy number of a variant gene without the generation of a large variance (population cohesion) is of significance regarding potential interactions between natural selection and molecular drive.

Family Structure and Family Processes in Mexican American Families

PubMed Central

Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

2010-01-01

Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct, CD/ODD and MDD symptoms, and greater parent-child conflict than their counterparts in two parent families. Single parent mothers reported greater economic hardship, depression and family stress. Family stress and parent-child conflict emerged as significant mediators of the association between family structure and early adolescent outcomes, suggesting important processes linking MA single parent families and adolescent adjustment. PMID:21361925

Independently recruited oxidases from the glucose-methanol-choline oxidoreductase family enabled chemical defences in leaf beetle larvae (subtribe Chrysomelina) to evolve

PubMed Central

Rahfeld, Peter; Kirsch, Roy; Kugel, Susann; Wielsch, Natalie; Stock, Magdalena; Groth, Marco; Boland, Wilhelm; Burse, Antje

2014-01-01

Larvae of the leaf beetle subtribe Chrysomelina sensu stricto repel their enemies by displaying glandular secretions that contain defensive compounds. These repellents can be produced either de novo (iridoids) or by using plant-derived precursors (e.g. salicylaldehyde). The autonomous production of iridoids, as in Phaedon cochleariae, is the ancestral chrysomeline chemical defence and predates the evolution of salicylaldehyde-based defence. Both biosynthesis strategies include an oxidative step of an alcohol intermediate. In salicylaldehyde-producing species, this step is catalysed by salicyl alcohol oxidases (SAOs) of the glucose-methanol-choline (GMC) oxidoreductase superfamily, but the enzyme oxidizing the iridoid precursor is unknown. Here, we show by in vitro as well as in vivo experiments that P. cochleariae also uses an oxidase from the GMC superfamily for defensive purposes. However, our phylogenetic analysis of chrysomeline GMC oxidoreductases revealed that the oxidase of the iridoid pathway originated from a GMC clade different from that of the SAOs. Thus, the evolution of a host-independent chemical defence followed by a shift to a host-dependent chemical defence in chrysomeline beetles coincided with the utilization of genes from different GMC subfamilies. These findings illustrate the importance of the GMC multi-gene family for adaptive processes in plant–insect interactions. PMID:24943369

Early evolutionary colocalization of the nuclear ribosomal 5S and 45S gene families in seed plants: evidence from the living fossil gymnosperm Ginkgo biloba

PubMed Central

Galián, J A; Rosato, M; Rosselló, J A

2012-01-01

In seed plants, the colocalization of the 5S loci within the intergenic spacer (IGS) of the nuclear 45S tandem units is restricted to the phylogenetically derived Asteraceae family. However, fluorescent in situ hybridization (FISH) colocalization of both multigene families has also been observed in other unrelated seed plant lineages. Previous work has identified colocalization of 45S and 5S loci in Ginkgo biloba using FISH, but these observations have not been confirmed recently by sequencing a 1.8 kb IGS. In this work, we report the presence of the 45S–5S linkage in G. biloba, suggesting that in seed plants the molecular events leading to the restructuring of the ribosomal loci are much older than estimated previously. We obtained a 6.0 kb IGS fragment showing structural features of functional sequences, and a single copy of the 5S gene was inserted in the same direction of transcription as the ribosomal RNA genes. We also obtained a 1.8 kb IGS that was a truncate variant of the 6.0 kb IGS lacking the 5S gene. Several lines of evidence strongly suggest that the 1.8 kb variants are pseudogenes that are present exclusively on the satellite chromosomes bearing the 45S–5S genes. The presence of ribosomal IGS pseudogenes best reconciles contradictory results concerning the presence or absence of the 45S–5S linkage in Ginkgo. Our finding that both ribosomal gene families have been unified to a single 45S–5S unit in Ginkgo indicates that an accurate reassessment of the organization of rDNA genes in basal seed plants is necessary. PMID:22354111

Los1p, involved in yeast pre-tRNA splicing, positively regulates members of the SOL gene family

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shen, W.C.; Stanford, D.R.; Hopper, A.K.

1996-06-01

To understand the role of Los1p in pre-tRNA splicing, we sought los1 multicopy suppressors. We found SOL1 that suppresses both point and null LOS1 mutations. Since, when fused to the Gal4p DNA-binding domain, Los1p activates transcription, we tested whether Los1p regulates SOL1. We found that los1 mutants have depleted levels of SOL1 mRNA and Sol1p. Thus, LOS1 appears to positively regulate SOL1. SOL1 belongs to a multigene family with at least two additional members, SOL2 and SOL3. Sol proteins have extensive similarity to an unusual group of glucose-6-phosphate dehydrogenases (G6PDs). As the similarities are restricted to areas separate from themore » catalytic domain, these G6PDs may have more than one function. The SOL gene disruptions negatively affect tRNA-mediated nonsense suppression and the severity increases with the number of mutant SOL genes. However, tRNA levels do not vary with either multicopy SOL genes or with SOL disruptions. Therefore, the Sol proteins affect tRNA expression/function at steps other than transcription or splicing. We propose that LOS1 regulates gene products involved in tRNA expression/function as well as pre-tRNA splicing. 64 refs., 6 figs., 6 tabs.« less

An efficient method to find potentially universal population genetic markers, applied to metazoans

PubMed Central

2010-01-01

Background Despite the impressive growth of sequence databases, the limited availability of nuclear markers that are sufficiently polymorphic for population genetics and phylogeography and applicable across various phyla restricts many potential studies, particularly in non-model organisms. Numerous introns have invariant positions among kingdoms, providing a potential source for such markers. Unfortunately, most of the few known EPIC (Exon Primed Intron Crossing) loci are restricted to vertebrates or belong to multigenic families. Results In order to develop markers with broad applicability, we designed a bioinformatic approach aimed at avoiding multigenic families while identifying intron positions conserved across metazoan phyla. We developed a program facilitating the identification of EPIC loci which allowed slight variation in intron position. From the Homolens databases we selected 29 gene families which contained 52 promising introns for which we designed 93 primer pairs. PCR tests were performed on several ascidians, echinoderms, bivalves and cnidarians. On average, 24 different introns per genus were amplified in bilaterians. Remarkably, five of the introns successfully amplified in all of the metazoan genera tested (a dozen genera, including cnidarians). The influence of several factors on amplification success was investigated. Success rate was not related to the phylogenetic relatedness of a taxon to the groups that most influenced primer design, showing that these EPIC markers are extremely conserved in animals. Conclusions Our new method now makes it possible to (i) rapidly isolate a set of EPIC markers for any phylum, even outside the animal kingdom, and thus, (ii) compare genetic diversity at potentially homologous polymorphic loci between divergent taxa. PMID:20836842

Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.

PubMed

Borg, Joseph; Georgitsi, Marianthi; Aleporou-Marinou, Vassiliki; Kollia, Panagoula; Patrinos, George P

2009-12-01

Homologous recombination is a frequent phenomenon in multigene families and as such it occurs several times in both the alpha- and beta-like globin gene families. In numerous occasions, genetic recombination has been previously implicated as a major mechanism that drives mutagenesis in the human globin gene clusters, either in the form of unequal crossover or gene conversion. Unequal crossover results in the increase or decrease of the human globin gene copies, accompanied in the majority of cases with minor phenotypic consequences, while gene conversion contributes either to maintaining sequence homogeneity or generating sequence diversity. The role of genetic recombination, particularly gene conversion in the evolution of the human globin gene families has been discussed elsewhere. Here, we summarize our current knowledge and review existing experimental evidence outlining the role of genetic recombination in the mutagenic process in the human globin gene families.

Novel insights into the composition, variation, organization, and expression of the low-molecular-weight glutenin subunit gene family in common wheat

PubMed Central

Zhang, Xiaofei; Liu, Dongcheng; Zhang, Jianghua; Jiang, Wei; Luo, Guangbin; Yang, Wenlong; Sun, Jiazhu; Tong, Yiping; Cui, Dangqun; Zhang, Aimin

2013-01-01

Low-molecular-weight glutenin subunits (LMW-GS), encoded by a complex multigene family, play an important role in the processing quality of wheat flour. Although members of this gene family have been identified in several wheat varieties, the allelic variation and composition of LMW-GS genes in common wheat are not well understood. In the present study, using the LMW-GS gene molecular marker system and the full-length gene cloning method, a comprehensive molecular analysis of LMW-GS genes was conducted in a representative population, the micro-core collections (MCC) of Chinese wheat germplasm. Generally, >15 LMW-GS genes were identified from individual MCC accessions, of which 4–6 were located at the Glu-A3 locus, 3–5 at the Glu-B3 locus, and eight at the Glu-D3 locus. LMW-GS genes at the Glu-A3 locus showed the highest allelic diversity, followed by the Glu-B3 genes, while the Glu-D3 genes were extremely conserved among MCC accessions. Expression and sequence analysis showed that 9–13 active LMW-GS genes were present in each accession. Sequence identity analysis showed that all i-type genes present at the Glu-A3 locus formed a single group, the s-type genes located at Glu-B3 and Glu-D3 loci comprised a unique group, while high-diversity m-type genes were classified into four groups and detected in all Glu-3 loci. These results contribute to the functional analysis of LMW-GS genes and facilitate improvement of bread-making quality by wheat molecular breeding programmes. PMID:23536608

Estrogen Regulation of Messenger RNA Stability

DTIC Science & Technology

1990-08-17

34Amphibian albumins as members of the albumin, alpha - fetoprotein , vitamin D- binding protein multigene family." J. Moi. Evol. 29: 344-354. Hagenbuchle, 0...Related to a- Fetoproteins .... 48 5. Comparison Between the Sequence of Xenopus and Rat Serum Albumin 50 6. Effect of Estradici on Cytoplasmic mRNA... alpha -actin clone pSPAC9 with Eco RI and Barn HI. The latter clone was a gift from Drs. Tom Sargent and Igor Dawid (NIH). The probe used for RNase H

Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry

PubMed Central

Yurgelun, Matthew B.; Masciari, Serena; Joshi, Victoria A.; Mercado, Rowena C.; Lindor, Noralane M.; Gallinger, Steven; Hopper, John L.; Jenkins, Mark A.; Buchanan, Daniel D.; Newcomb, Polly A.; Potter, John D.; Haile, Robert W.; Kucherlapati, Raju; Syngal, Sapna

2015-01-01

in probands with clinical features of Li-Fraumeni syndrome, and 2 were novel alterations. CONCLUSIONS AND RELEVANCE In a large cohort of patients with early-onset colorectal cancer, germline TP53 mutations were detected at a frequency comparable with the published prevalence of germline APC mutations in colorectal cancer. With the increasing use of multigene next-generation sequencing panels in hereditary cancer risk assessment, clinicians will be faced with the challenge of interpreting the biologic and clinical significance of germline TP53 mutations in families whose phenotypes are atypical for Li-Fraumeni syndrome. PMID:26086041

Family ties: constructing family time in low-income families.

PubMed

Tubbs, Carolyn Y; Roy, Kevin M; Burton, Linda M

2005-03-01

"Family time" is reflected in the process of building and fortifying family relationships. Whereas such time, free of obligatory work, school, and family maintenance activities, is purchased by many families using discretionary income, we explore how low-income mothers make time for and give meaning to focused engagement and relationship development with their children within time constraints idiosyncratic to being poor and relying on welfare. Longitudinal ethnographic data from 61 low-income African American, European American, and Latina American mothers were analyzed to understand how mothers construct family time during daily activities such as talking, play, and meals. We also identify unique cultural factors that shape family time for low-income families, such as changing temporal orientations, centrality of television time, and emotional burdens due to poverty. Implications for family therapy are also discussed.

Durable protection of rhesus macaques immunized with a replicating adenovirus-SIV multigene prime/protein boost vaccine regimen against a second SIVmac251 rectal challenge: role of SIV-specific CD8+ T cell responses.

PubMed

Malkevitch, Nina V; Patterson, L Jean; Aldrich, M Kristine; Wu, Yichen; Venzon, David; Florese, Ruth H; Kalyanaraman, V S; Pal, Ranajit; Lee, Eun Mi; Zhao, Jun; Cristillo, Anthony; Robert-Guroff, Marjorie

2006-09-15

Previously, priming with replication-competent adenovirus-SIV multigenic vaccines and boosting with envelope subunits strongly protected 39% of rhesus macaques against rectal SIV(mac251) challenge. To evaluate protection durability, eleven of the protected and two SIV-infected unimmunized macaques that controlled viremia were re-challenged rectally with SIV(mac251). Strong protection was observed in 8/11 vaccinees, including two exhibiting <50 SIV RNA copies. Decreased viremia compared to naïve controls was observed in the other three. The SIV-infected unimmunized macaques modestly controlled viremia but exhibited CD4 counts < or =200, unlike the protected macaques. Durable protection was associated with significantly increased SIV-specific ELISPOT responses and lymphoproliferative responses to p27 at re-challenge. After CD8 depletion, 2 of 8 re-challenged, protected vaccinees maintained <50 SIV RNA copies; SIV RNA emerged in 6. Re-appearance of CD8 cells and restoration of SIV-specific cellular immunity coincided with viremia suppression. Overall, cellular immunity induced by vaccination and/or low-level, inapparent viremia post-first SIV(mac251) challenge, was associated with durable protection against re-challenge.

Antennal transcriptome analysis of the chemosensory gene families in the tree killing bark beetles, Ips typographus and Dendroctonus ponderosae (Coleoptera: Curculionidae: Scolytinae)

PubMed Central

2013-01-01

Background The European spruce bark beetle, Ips typographus, and the North American mountain pine beetle, Dendroctonus ponderosae (Coleoptera: Curculionidae: Scolytinae), are severe pests of coniferous forests. Both bark beetle species utilize aggregation pheromones to coordinate mass-attacks on host trees, while odorants from host and non-host trees modulate the pheromone response. Thus, the bark beetle olfactory sense is of utmost importance for fitness. However, information on the genes underlying olfactory detection has been lacking in bark beetles and is limited in Coleoptera. We assembled antennal transcriptomes from next-generation sequencing of I. typographus and D. ponderosae to identify members of the major chemosensory multi-gene families. Results Gene ontology (GO) annotation indicated that the relative abundance of transcripts associated with specific GO terms was highly similar in the two species. Transcripts with terms related to olfactory function were found in both species. Focusing on the chemosensory gene families, we identified 15 putative odorant binding proteins (OBP), 6 chemosensory proteins (CSP), 3 sensory neuron membrane proteins (SNMP), 43 odorant receptors (OR), 6 gustatory receptors (GR), and 7 ionotropic receptors (IR) in I. typographus; and 31 putative OBPs, 11 CSPs, 3 SNMPs, 49 ORs, 2 GRs, and 15 IRs in D. ponderosae. Predicted protein sequences were compared with counterparts in the flour beetle, Tribolium castaneum, the cerambycid beetle, Megacyllene caryae, and the fruit fly, Drosophila melanogaster. The most notable result was found among the ORs, for which large bark beetle-specific expansions were found. However, some clades contained receptors from all four beetle species, indicating a degree of conservation among some coleopteran OR lineages. Putative GRs for carbon dioxide and orthologues for the conserved antennal IRs were included in the identified receptor sets. Conclusions The protein families important for

Insight into Catechins Metabolic Pathways of Camellia sinensis Based on Genome and Transcriptome Analysis.

PubMed

Wang, Wenzhao; Zhou, Yihui; Wu, Yingling; Dai, Xinlong; Liu, Yajun; Qian, Yumei; Li, Mingzhuo; Jiang, Xiaolan; Wang, Yunsheng; Gao, Liping; Xia, Tao

2018-04-25

Tea is an important economic crop with a 3.02 Gb genome. It accumulates various bioactive compounds, especially catechins, which are closely associated with tea flavor and quality. Catechins are biosynthesized through the phenylpropanoid and flavonoid pathways, with 12 structural genes being involved in their synthesis. However, we found that in Camellia sinensis the understanding of the basic profile of catechins biosynthesis is still unclear. The gene structure, locus, transcript number, transcriptional variation, and function of multigene families have not yet been clarified. Our previous studies demonstrated that the accumulation of flavonoids in tea is species, tissue, and induction specific, which indicates that gene coexpression patterns may be involved in tea catechins and flavonoids biosynthesis. In this paper, we screened candidate genes of multigene families involved in the phenylpropanoid and flavonoid pathways based on an analysis of genome and transcriptome sequence data. The authenticity of candidate genes was verified by PCR cloning, and their function was validated by reverse genetic methods. In the present study, 36 genes from 12 gene families were identified and were accessed in the NCBI database. During this process, some intron retention events of the CsCHI and CsDFR genes were found. Furthermore, the transcriptome sequencing of various tea tissues and subcellular location assays revealed coexpression and colocalization patterns. The correlation analysis showed that CsCHIc, CsF3'H, and CsANRb expression levels are associated significantly with the concentration of soluble PA as well as the expression levels of CsPALc and CsPALf with the concentration of insoluble PA. This work provides insights into catechins metabolism in tea and provides a foundation for future studies.

Genome-wide identification, characterization of sugar transporter genes in the silkworm Bombyx mori and role in Bombyx mori nucleopolyhedrovirus (BmNPV) infection.

PubMed

Govindaraj, Lekha; Gupta, Tania; Esvaran, Vijaya Gowri; Awasthi, Arvind Kumar; Ponnuvel, Kangayam M

2016-04-01

Sugar transporters play an essential role in controlling carbohydrate transport and are responsible for mediating the movement of sugars into cells. These genes exist as large multigene families within the insect genome. In insects, sugar transporters not only have a role in sugar transport, but may also act as receptors for virus entry. Genome-wide annotation of silkworm Bombyx mori (B. mori) revealed 100 putative sugar transporter (BmST) genes exists as a large multigene family and were classified into 11 sub families, through phylogenetic analysis. Chromosomes 27, 26 and 20 were found to possess the highest number of BmST paralogous genes, harboring 22, 7 and 6 genes, respectively. These genes occurred in clusters exhibiting the phenomenon of tandem gene duplication. The ovary, silk gland, hemocytes, midgut and malphigian tubules were the different tissues/cells enriched with BmST gene expression. The BmST gene BGIBMGA001498 had maximum EST transcripts of 134 and expressed exclusively in the malphigian tubule. The expression of EST transcripts of the BmST clustered genes on chromosome 27 was distributed in various tissues like testis, ovary, silk gland, malphigian tubule, maxillary galea, prothoracic gland, epidermis, fat body and midgut. Three sugar transporter genes (BmST) were constitutively expressed in the susceptible race and were down regulated upon BmNPV infection at 12h post infection (hpi). The expression pattern of these three genes was validated through real-time PCR in the midgut tissues at different time intervals from 0 to 30hpi. In the susceptible B. mori race, expression of sugar transporter genes was constitutively expressed making the host succumb to viral infection. Copyright © 2015 Elsevier B.V. All rights reserved.

A multi-gene phylogeny of Cephalopoda supports convergent morphological evolution in association with multiple habitat shifts in the marine environment

PubMed Central

2012-01-01

Background The marine environment is comprised of numerous divergent organisms living under similar selective pressures, often resulting in the evolution of convergent structures such as the fusiform body shape of pelagic squids, fishes, and some marine mammals. However, little is known about the frequency of, and circumstances leading to, convergent evolution in the open ocean. Here, we present a comparative study of the molluscan class Cephalopoda, a marine group known to occupy habitats from the intertidal to the deep sea. Several lineages bear features that may coincide with a benthic or pelagic existence, making this a valuable group for testing hypotheses of correlated evolution. To test for convergence and correlation, we generate the most taxonomically comprehensive multi-gene phylogeny of cephalopods to date. We then create a character matrix of habitat type and morphological characters, which we use to infer ancestral character states and test for correlation between habitat and morphology. Results Our study utilizes a taxonomically well-sampled phylogeny to show convergent evolution in all six morphological characters we analyzed. Three of these characters also correlate with habitat. The presence of an autogenic photophore (those relying upon autonomous enzymatic light reactions) is correlated with a pelagic habitat, while the cornea and accessory nidamental gland correlate with a benthic lifestyle. Here, we present the first statistical tests for correlation between convergent traits and habitat in cephalopods to better understand the evolutionary history of characters that are adaptive in benthic or pelagic environments, respectively. Discussion Our study supports the hypothesis that habitat has influenced convergent evolution in the marine environment: benthic organisms tend to exhibit similar characteristics that confer protection from invasion by other benthic taxa, while pelagic organisms possess features that facilitate crypsis and communication

Multigene phylogeny and cell evolution of chromist infrakingdom Rhizaria: contrasting cell organisation of sister phyla Cercozoa and Retaria.

PubMed

Cavalier-Smith, Thomas; Chao, Ema E; Lewis, Rhodri

2018-04-17

, and are consistent with holophyly of Chromista as sister of kingdom Plantae. Site-heterogeneous rDNA trees group Kraken with environmental DNA clade 'eSarcomonad', not Paracercomonadida. Ectoretan fossil dates evidence ultrarapid episodic stem sequence evolution. We discuss early rhizarian cell evolution and multigene tree coevolutionary patterns, gene-paralogue evidence for chromist monophyly, and integrate this with fossil evidence for the age of Rhizaria and eukaryote cells, and revise rhizarian classification.

Who counts as family? Family typologies, family support, and family undermining among young adult gay and bisexual men.

PubMed

Soler, Jorge H; Caldwell, Cleopatra H; Córdova, David; Harper, Gary; Bauermeister, José A

2018-06-01

Gay and bisexual men may form chosen families in addition to or in place of families of origin. However, the characteristics of these diverse families remain largely unexamined in the quantitative literature. The purpose of this study was to develop a family typology based on responses from a racially and ethnically diverse sample of young adult gay and bisexual men (YGBM) recruited from the Detroit Metropolitan Area (N=350; 18-29 years old). To explore the role of family, we then examined family social support and social undermining in relation to YGBM psychological distress within different family types. A series of multivariate regressions were used to examine associations between family social support and social undermining with depression and anxiety outcomes. The majority (88%) of YGBM included family of origin in their definitions of family and 63% indicated having chosen families. Associations between family social processes and psychological outcomes varied by type of family, suggesting that family composition shapes how perceptions of support and undermining relate to experiencing symptoms of depression and anxiety. Chosen families play a prominent role in the lives of YGBM and should not be overlooked in family research. Findings also highlight the importance of examining co-occurring family social support and social stress processes to further address psychological distress symptoms among YGBM.

Evolution of the Order Urostylida (Protozoa, Ciliophora): New Hypotheses Based on Multi-Gene Information and Identification of Localized Incongruence

PubMed Central

Yi, Zhenzhen; Song, Weibo

2011-01-01

Previous systematic arrangement on the ciliate order Urostylida was mainly based on morphological data and only about 20% taxa were analyzed using molecular phylogenetic analyses. In the present investigation, 22 newly sequenced species for which alpha-tubulin, SSU rRNA genes or ITS1-5.8S-ITS2 region were sampled, refer to all families within the order. Following conclusions could be drawn: (1) the order Urostylida is not monophyletic, but a core group is always present; (2) among the family Urostylidae, six of 10 sequenced genera are rejected belonging to this family; (3) the genus Epiclintes is confirmed belonging to its own taxon; (4) the family Pseudokeronopsidae undoubtedly belongs to the core portion of urostylids; however, some or most of its members should be transferred to the family Urostylidae; (5) Bergeriellidae is confirmed to be a valid family; (6) the distinction of the taxon Acaudalia is not supported; (7) the morphology-based genus Anteholosticha is extremely polyphyletic; (8) ITS2 secondary structures of Pseudoamphisiella and Psammomitra are rather different from other urostylids; (9) partition addition bootstrap alteration (PABA) result shows that bootstrap values usually tend to increase as more gene partitions are included. PMID:21408166

Genomic Characterization of Variable Surface Antigens Reveals a Telomere Position Effect as a Prerequisite for RNA Interference-Mediated Silencing in Paramecium tetraurelia

PubMed Central

Baranasic, Damir; Oppermann, Timo; Cheaib, Miriam; Cullum, John; Schmidt, Helmut

2014-01-01

ABSTRACT Antigenic or phenotypic variation is a widespread phenomenon of expression of variable surface protein coats on eukaryotic microbes. To clarify the mechanism behind mutually exclusive gene expression, we characterized the genetic properties of the surface antigen multigene family in the ciliate Paramecium tetraurelia and the epigenetic factors controlling expression and silencing. Genome analysis indicated that the multigene family consists of intrachromosomal and subtelomeric genes; both classes apparently derive from different gene duplication events: whole-genome and intrachromosomal duplication. Expression analysis provides evidence for telomere position effects, because only subtelomeric genes follow mutually exclusive transcription. Microarray analysis of cultures deficient in Rdr3, an RNA-dependent RNA polymerase, in comparison to serotype-pure wild-type cultures, shows cotranscription of a subset of subtelomeric genes, indicating that the telomere position effect is due to a selective occurrence of Rdr3-mediated silencing in subtelomeric regions. We present a model of surface antigen evolution by intrachromosomal gene duplication involving the maintenance of positive selection of structurally relevant regions. Further analysis of chromosome heterogeneity shows that alternative telomere addition regions clearly affect transcription of closely related genes. Consequently, chromosome fragmentation appears to be of crucial importance for surface antigen expression and evolution. Our data suggest that RNAi-mediated control of this genetic network by trans-acting RNAs allows rapid epigenetic adaptation by phenotypic variation in combination with long-term genetic adaptation by Darwinian evolution of antigen genes. PMID:25389173

Evolution of the duplicated intracellular lipid-binding protein genes of teleost fishes.

PubMed

Venkatachalam, Ananda B; Parmar, Manoj B; Wright, Jonathan M

2017-08-01

Increasing organismal complexity during the evolution of life has been attributed to the duplication of genes and entire genomes. More recently, theoretical models have been proposed that postulate the fate of duplicated genes, among them the duplication-degeneration-complementation (DDC) model. In the DDC model, the common fate of a duplicated gene is lost from the genome owing to nonfunctionalization. Duplicated genes are retained in the genome either by subfunctionalization, where the functions of the ancestral gene are sub-divided between the sister duplicate genes, or by neofunctionalization, where one of the duplicate genes acquires a new function. Both processes occur either by loss or gain of regulatory elements in the promoters of duplicated genes. Here, we review the genomic organization, evolution, and transcriptional regulation of the multigene family of intracellular lipid-binding protein (iLBP) genes from teleost fishes. Teleost fishes possess many copies of iLBP genes owing to a whole genome duplication (WGD) early in the teleost fish radiation. Moreover, the retention of duplicated iLBP genes is substantially higher than the retention of all other genes duplicated in the teleost genome. The fatty acid-binding protein genes, a subfamily of the iLBP multigene family in zebrafish, are differentially regulated by peroxisome proliferator-activated receptor (PPAR) isoforms, which may account for the retention of iLBP genes in the zebrafish genome by the process of subfunctionalization of cis-acting regulatory elements in iLBP gene promoters.

Family Violence and Family Physicians

PubMed Central

Herbert, Carol P.

1991-01-01

The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

Circumscription and Taxonomic Arrangement of Nigroboletus roseonigrescens Gen. Et Sp. Nov., a New Member of Boletaceae from Tropical South–Eastern China

PubMed Central

Gelardi, Matteo; Vizzini, Alfredo; Ercole, Enrico; Horak, Egon; Ming, Zhang; Li, Tai–Hui

2015-01-01

Nigroboletus is proposed as a novel genus in family Boletaceae, subfamily Boletoideae, to include N. roseonigrescens, a new boletoid species from tropical environment in south–eastern China. Detailed morphological description, color pictures of both fresh basidiomes in habitat and dried material along with photomicrographs and line drawings of the main anatomical features are provided, supported by a comprehensive phylogeny based on multigene molecular analysis (nrITS, nrLSU, rpb1, rpb2 and tef1-α datasets). Taxonomic placement and evolutionary relationships of Nigroboletus are investigated. PMID:26263180

Family functioning in the families of psychiatric patients: a comparison with nonclinical families.

PubMed

Trangkasombat, Umaporn

2006-11-01

To examine family functioning in the families of psychiatric patients. Families of psychiatric patients and nonclinical families were compared. There were 60 families in each group. The instrument included a semistructured interview of family functioning and the Chulalongkorn Family Inventory (CFI), a self-report questionnaire designed to assess the perception of one's family. From the assessment by semistructured interview, 83.3% of psychiatric families and 45.0% of nonclinical families were found to be dysfunctional in at least one dimension. The difference was statistically significant (p < 0.001). The average number of dysfunctional dimensions in the psychiatric families was significantly higher than in the nonclinical control group, 3.5 +/- 1.9 and 0.98 +/- 1.5 respectively, p < 0.0001. The CFI scores of the psychiatric families were significantly lower than the control group, reflecting poor family functioning. The dysfunctions were mostly in the following dimensions: problem-solving, communication, affective responsiveness, affective involvement, and behavior control. Psychiatric families faced more psychosocial stressors and the average number of stressors was higher than the control families, 88.3% vs. 56.7% and 4.2 +/- 2.7 vs. 1.3 +/- 1.47 stressors respectively, p < 0.0001. Family functioning of psychiatric patients was less healthy than the nonclinical control. The present study underlined the significance of family assessment and family intervention in the comprehensive care of psychiatric patients.

In silico analysis of the fucosylation-associated genome of the human blood fluke Schistosoma mansoni: cloning and characterization of the fucosyltransferase multigene family.

PubMed

Peterson, Nathan A; Anderson, Tavis K; Yoshino, Timothy P

2013-01-01

Fucosylated glycans of the parasitic flatworm Schistosoma mansoni play key roles in its development and immunobiology. In the present study we used a genome-wide homology-based bioinformatics approach to search for genes that contribute to fucosylated glycan expression in S. mansoni, specifically the α2-, α3-, and α6-fucosyltransferases (FucTs), which transfer L-fucose from a GDP-L-fucose donor to an oligosaccharide acceptor. We identified and in silico characterized several novel schistosome FucT homologs, including six α3-FucTs and six α6-FucTs, as well as two protein O-FucTs that catalyze the unrelated transfer of L-fucose to serine and threonine residues of epidermal growth factor- and thrombospondin-type repeats. No α2-FucTs were observed. Primary sequence analyses identified key conserved FucT motifs as well as characteristic transmembrane domains, consistent with their putative roles as fucosyltransferases. Most genes exhibit alternative splicing, with multiple transcript variants generated. A phylogenetic analysis demonstrated that schistosome α3- and α6-FucTs form monophyletic clades within their respective gene families, suggesting multiple gene duplications following the separation of the schistosome lineage from the main evolutionary tree. Quantitative decreases in steady-state transcript levels of some FucTs during early larval development suggest a possible mechanism for differential expression of fucosylated glycans in schistosomes. This study systematically identifies the complete repertoire of FucT homologs in S. mansoni and provides fundamental information regarding their genomic organization, genetic variation, developmental expression, and evolutionary history.

Strengthening Family Practices for Latino Families.

PubMed

Chartier, Karen G; Negroni, Lirio K; Hesselbrock, Michie N

2010-01-01

The study examined the effectiveness of a culturally-adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9-12 year old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted with each family. Parental stress, parent-child dysfunctional relations, and child behavior problems were reduced in the families receiving the intervention; family hardiness and family attachment were improved. Findings contribute to the validation of the SFP with Latinos, and can be used to inform social work practice with Puerto Rican families.

A 250 plastome phylogeny of the grass family (Poaceae): topological support under different data partitions

PubMed Central

Burke, Sean V.; Wysocki, William P.; Clark, Lynn G.

2018-01-01

The systematics of grasses has advanced through applications of plastome phylogenomics, although studies have been largely limited to subfamilies or other subgroups of Poaceae. Here we present a plastome phylogenomic analysis of 250 complete plastomes (179 genera) sampled from 44 of the 52 tribes of Poaceae. Plastome sequences were determined from high throughput sequencing libraries and the assemblies represent over 28.7 Mbases of sequence data. Phylogenetic signal was characterized in 14 partitions, including (1) complete plastomes; (2) protein coding regions; (3) noncoding regions; and (4) three loci commonly used in single and multi-gene studies of grasses. Each of the four main partitions was further refined, alternatively including or excluding positively selected codons and also the gaps introduced by the alignment. All 76 protein coding plastome loci were found to be predominantly under purifying selection, but specific codons were found to be under positive selection in 65 loci. The loci that have been widely used in multi-gene phylogenetic studies had among the highest proportions of positively selected codons, suggesting caution in the interpretation of these earlier results. Plastome phylogenomic analyses confirmed the backbone topology for Poaceae with maximum bootstrap support (BP). Among the 14 analyses, 82 clades out of 309 resolved were maximally supported in all trees. Analyses of newly sequenced plastomes were in agreement with current classifications. Five of seven partitions in which alignment gaps were removed retrieved Panicoideae as sister to the remaining PACMAD subfamilies. Alternative topologies were recovered in trees from partitions that included alignment gaps. This suggests that ambiguities in aligning these uncertain regions might introduce a false signal. Resolution of these and other critical branch points in the phylogeny of Poaceae will help to better understand the selective forces that drove the radiation of the BOP and PACMAD

A Single Multiplex crRNA Array for FnCpf1-Mediated Human Genome Editing.

PubMed

Sun, Huihui; Li, Fanfan; Liu, Jie; Yang, Fayu; Zeng, Zhenhai; Lv, Xiujuan; Tu, Mengjun; Liu, Yeqing; Ge, Xianglian; Liu, Changbao; Zhao, Junzhao; Zhang, Zongduan; Qu, Jia; Song, Zongming; Gu, Feng

2018-06-15

Cpf1 has been harnessed as a tool for genome manipulation in various species because of its simplicity and high efficiency. Our recent study demonstrated that FnCpf1 could be utilized for human genome editing with notable advantages for target sequence selection due to the flexibility of the protospacer adjacent motif (PAM) sequence. Multiplex genome editing provides a powerful tool for targeting members of multigene families, dissecting gene networks, modeling multigenic disorders in vivo, and applying gene therapy. However, there are no reports at present that show FnCpf1-mediated multiplex genome editing via a single customized CRISPR RNA (crRNA) array. In the present study, we utilize a single customized crRNA array to simultaneously target multiple genes in human cells. In addition, we also demonstrate that a single customized crRNA array to target multiple sites in one gene could be achieved. Collectively, FnCpf1, a powerful genome-editing tool for multiple genomic targets, can be harnessed for effective manipulation of the human genome. Copyright © 2018 The American Society of Gene and Cell Therapy. Published by Elsevier Inc. All rights reserved.

The Soviet Counterpropaganda Campaign

DTIC Science & Technology

1985-03-01

qUe~-~ropasar~da g , " :L • z _~.’~’ed at youth. :’ Co ar.-d " a : ! - - . ’ , ~ L : ’ ’ ~ Jr:st it _,t e c.~-eat e - 4 - Cherne~ ko ’ s...s beyomd the stepped-up D ad:~inist rat icn. @: Ko :,,-,;ur, ist states th~, ~ offset "the _~ar;ge . " p r o c ~ ~ i : , t ha t t, z, io,z...M,Dscow~ 3rd 2. V. iev, _Radya_ns" Ka Uk.2_~yir_:a , "Ar~atomy of Ant i-comm~,r, ism", L. Nahorna, 17 Mar. £4 "Cherr~er, ko Elaborates On ~asks o

Family and family therapy in the Netherlands.

PubMed

Wagenaar, Karin; Baars, Jan

2012-04-01

This article describes how families are functioning in the Netherlands, and how family therapy is used in mental healthcare. In the open Dutch society, new ideas are easily incorporated, as exemplified by the rapid introduction and growth of family therapy in the 1980s. In recent decades, however, family therapy has lost ground to other treatment models that are more individually orientated, and adhere to stricter protocols. This decline of family therapy has been exacerbated by recent budget cuts in mental healthcare. In regular healthcare institutes family therapy now has a marginal position at best, although family treatment models are used in specific areas such as forensic treatments. In addition, the higher trained family therapists have found their own niches to work with couples and families. We argue that a stronger position of family therapy would be beneficial for patients and for families, in order to counteract the strong individualization of Dutch society.

Family demands, social support and family functioning in Taiwanese families rearing children with Down syndrome.

PubMed

Hsiao, C-Y

2014-06-01

Down syndrome (DS) affects not only children but also their families. Much remains to be learned about factors that influence how families of children with DS function, especially families in non-Western populations. The purpose of this cross-sectional, correlational study was to examine how family demographics, family demands and social support relate to family functioning as well as the potential mediating effect of social support on the relationship between family demands and family functioning in Taiwanese families of children with DS. One hundred and fifty-five parents (80 mothers and 75 fathers) from 83 families independently completed mailed questionnaires. Data were analysed using a principal component analysis and mixed linear modelling. Families having older children with DS, greater parental education, higher family income, fewer family demands and greater social support contributed to healthier family functioning. Social support partially mediated the effects of family demands on family functioning. Family demographics, family demands and social support appear to be important factors that may play a critical role in how Taiwanese families respond to the birth of a child with DS. Care of children with DS and their families is likely to be more effective if professionals working with these families are aware of factors that contribute to healthy family functioning. © 2013 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Family functioning of child-rearing Japanese families on family-accompanied work assignments in Hong Kong.

PubMed

Hohashi, Naohiro; Honda, Junko

2011-11-01

Although the number of employees on overseas assignments accompanied by their families has increased steadily, little is known about the effects of this experience on family functioning. Japanese families on family-accompanied assignments living in Hong Kong were compared with families living in Japan (consisting of 135 and 248 paired partners, respectively). Applying an ecological framework, family functioning was examined using the Feetham Family Functioning Survey-Japanese (FFFS-J). Japanese wives living in Hong Kong rated family functioning lower, particularly in the area of "relationship between family and family members." Between paired marital partners living in Hong Kong, the level of satisfaction in the area of "relationship between family and society" was significantly lower for wives than for husbands. This study provides application of the family ecological framework in families in a multicultural environment and identifies potential areas for family assessment and intervention that may of interest to health care professionals who care for families living away from their home countries.

Families and family therapy in Hong Kong.

PubMed

Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

2012-04-01

Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families.

Methodological issues in interviewing families in family nursing research.

PubMed

Astedt-Kurki, P; Paavilainen, E; Lehti, K

2001-07-01

The aim of this study is to discuss what methodological problems can be met in family research with one family member as an interviewee speaking on behalf of the whole family and, vice versa, what is the meaning of having multiple family members or the whole family unit as informants. Family nursing research is part of multidisciplinary research with families. It is a basis for family nursing and contributes to research, especially from the perspective of family welfare and its promotion. Family nursing research generates knowledge concerning families' and family members' wellbeing and experiences and expectations of nursing and health care. The examination of methodological problems while pursuing family research is based on two studies conducted in Finland. Quantitative methods add to the general knowledge of families. Qualitative methods are well suited to the study of family experiences. Family interviews performed for research purposes differ from interviews aiming at caring for families. They aim at obtaining knowledge of families on a general level so as to improve family nursing. Family research has to be looked at as a whole. It faces many challenges such as the definition of the family, gaining access, methods of data collection and data management. A family is a complex system and research with families need flexible, sensitive and practical methods. Family research should also aim at developing new methods for data collection and analysis.

Strengthening Families: Exploring the Impacts of Family Camp Experiences on Family Functioning and Parenting

ERIC Educational Resources Information Center

Garst, Barry A.; Baughman, Sarah; Franz, Nancy K.; Seidel, Richard W.

2013-01-01

Research suggests that family camp experiences can enhance family relationships. Families often participate in family camp experiences for a vacation, as part of a therapeutic and/or intervention strategy, or to gain general enrichment or engagement. To better understand the impacts of family camp experiences on family functioning, a mixed-methods…

Family interactions in adoptive compared to nonadoptive families.

PubMed

Rueter, Martha A; Keyes, Margaret A; Iacono, William G; McGue, Matt

2009-02-01

Despite the large and growing numbers of adoptive families, little research describes interactions in families with adopted adolescents. Yet, adopted adolescents' increased risk for adjustment problems, combined with the association between family interactions and adolescent adjustment in nonadoptive families, raises questions about differences in adoptive and nonadoptive family interactions. We compared observed and self-reported family interactions between 284 adoptive and 208 nonadoptive families and within 123 families with 1 adopted and 1 nonadopted adolescent. Adolescents averaged 14.9 years of age. Comparisons were made using analysis of variance incorporating hierarchical linear methods in SAS PROC MIXED to control family-related correlations in the data. Parents and children reported more conflict in adoptive families when compared with nonadoptive families. Families with 1 adopted and 1 nonadopted adolescent reported more conflict between parents and adopted adolescents. Observed parental behavior was similar across adoptive and nonadoptive children although adopted adolescents were less warm and, in families with 2 adopted children, more conflictual than nonadopted adolescents. These findings suggest a need for further investigation of the association between family interactions and adopted adolescent problem behavior. Copyright 2009 APA, all rights reserved.

Family Interactions in Adoptive Compared to Nonadoptive Families

PubMed Central

Rueter, Martha A.; Keyes, Margaret A.; Iacono, William G.; McGue, Matt

2009-01-01

Despite the large and growing numbers of adoptive families, little research describes interactions in families with adopted adolescents. Yet, adopted adolescents’ increased risk for adjustment problems, combined with the association between family interactions and adolescent adjustment in nonadoptive families, raises questions about differences in adoptive and nonadoptive family interactions. We compared observed and self-reported family interactions between 284 adoptive and 208 nonadoptive families and within 123 families with 1 adopted and 1 nonadopted adolescent. Adolescents averaged 14.9 years of age. Comparisons were made using analysis of variance incorporating hierarchical linear methods in SAS PROC MIXED to control family-related correlations in the data. Parents and children reported more conflict in adoptive families when compared with nonadoptive families. Families with 1 adopted and 1 nonadopted adolescent reported more conflict between parents and adopted adolescents. Observed parental behavior was similar across adoptive and nonadoptive children although adopted adolescents were less warm and, in families with 2 adopted children, more conflictual than nonadopted adolescents. These findings suggest a need for further investigation of the association between family interactions and adopted adolescent problem behavior. PMID:19203160

The Family in Us: Family History, Family Identity and Self-Reproductive Adaptive Behavior.

PubMed

Ferring, Dieter

2017-06-01

This contribution is an essay about the notion of family identity reflecting shared significant experiences within a family system originating a set of signs used in social communication within and between families. Significant experiences are considered as experiences of events that have an immediate impact on the adaptation of the family in a given socio-ecological and cultural context at a given historical time. It is assumed that family history is stored in a shared "family memory" holding both implicit and explicit knowledge and exerting an influence on the behavior of each family member. This is described as transgenerational family memory being constituted of a system of meaningful signs. The crucial dimension underlying the logic of this essay are the ideas of adaptation as well as self-reproduction of systems.

Comprehensive cross-genome survey and phylogeny of Glycoside Hydrolase Family 16 members reveals the evolutionary origin of EG16 and XTH proteins in plant lineages.

PubMed

Behar, Hila; Graham, Sean W; Brumer, Harry

2018-06-22

Carbohydrate-active enzymes (CAZymes) are central to the biosynthesis and modification of the plant cell wall. An ancient clade of bifunctional plant endo-glucanases (EG16 members) was recently revealed and proposed to represent a transitional group uniting plant xyloglucan endo-transglycosylase/hydrolase (XTH) gene products and bacterial mixed-linkage endo-glucanases in the phylogeny of Glycoside Hydrolase Family 16 (GH16). To gain broader insights into the distribution and frequency of EG16 and other GH16 members in plants, the Phytozome, Plaza, NCBI, and 1000 Plants databases were mined to build a comprehensive census among 1289 species spanning the broad phylogenetic diversity of multiple algae through recent plant lineages. EG16, newly identified EG16-2, and XTH members appeared first in the green algae. Extant EG16 members represent the early adoption of the β-jelly-roll protein scaffold from a bacterial or early-lineage eukaryotic GH16 gene, which is characterized by loop deletion and extension of the N-terminus (in EG16-2 members) or C-terminus (in XTH members). Maximum-likelihood phylogenetic analysis of EG16 and EG16-2 sequences are directly concordant with contemporary estimates of plant evolution. The lack of expansion of EG16 members into multi-gene families across green plants may point to a core metabolic role under tight control, in contrast to XTH genes that have undergone extensive duplications typical of cell-wall CAZymes. The present census will underpin future studies to elucidate the physiological role of EG16 members across plant species, and serve as roadmap for delineating the closely related EG16 and XTH gene products in bioinformatic analyses of emerging genomes and transcriptomes. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer

PubMed Central

2011-01-01

Background Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. Methods This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES) based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. Results More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70) and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Conclusion Many Filipino families of children with cancer have inadequate resources, especially economic

Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer.

PubMed

Panganiban-Corales, Avegeille T; Medina, Manuel F

2011-10-31

Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES) based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70) and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Many Filipino families of children with cancer have inadequate resources, especially economic; and are moderately or severely

24 CFR 982.515 - Family share: Family responsibility.

Code of Federal Regulations, 2011 CFR

2011-04-01

... 24 Housing and Urban Development 4 2011-04-01 2011-04-01 false Family share: Family responsibility... Assistance Payment § 982.515 Family share: Family responsibility. (a) The family share is calculated by subtracting the amount of the housing assistance payment from the gross rent. (b) The family rent to owner is...

24 CFR 982.515 - Family share: Family responsibility.

Code of Federal Regulations, 2010 CFR

2010-04-01

... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Family share: Family responsibility... Assistance Payment § 982.515 Family share: Family responsibility. (a) The family share is calculated by subtracting the amount of the housing assistance payment from the gross rent. (b) The family rent to owner is...

Characterization of susceptibility and resistance responses to potato cyst nematode (Globodera spp.) infection of tomato lines in the absence and presence of the broad-spectrum nematode resistance Hero gene.

PubMed

Sobczak, Miroslaw; Avrova, Anna; Jupowicz, Justyna; Phillips, Mark S; Ernst, Karin; Kumar, Amar

2005-02-01

The tomato Hero A gene is the only member of a multigene family that confers a high level (>80%) of resistance to all the economically important pathotypes of potato cyst nematode (PCN) species Globodera rostochiensis and G. pallida. Although the resistance levels of transgenic tomato lines were similar to those of the tomato line LA1792 containing the introgressed Hero multigene family, transgenic potato plants expressing the tomato Hero A gene are not resistant to PCNs. Comparative microscopy studies of in vitro infected roots of PCN-susceptible tomato cv. Money Maker, the resistant breeding line LA1792, and transgenic line L10 with Ro1 pathotype have revealed no statistically significant difference in the number of juveniles invading roots. However, syncytia (specialized feeding cells) induced in LA1792 and L10 roots mostly were found to have degenerated a few days after their induction, and a few surviving syncytia were able to support only the development of males rather than females. Thus, the ratio between males and females was biased towards males on LA1792 and L10 roots. A series of changes occur in resistant plants leading to formation of a layer of necrotic cells separating the syncytium from stellar conductive tissues and this is followed by degradation of the syncytium. Although the Hero A gene is expressed in all tissues, including roots, stems, leaves, and flower buds, its expression is upregulated in roots in response to PCN infection. Moreover, the expression profiles of the Hero A correlates with the timing of death of the syncytium.

Family Support Builds Stronger Families: The Roots of Family-Supportive Child Care

ERIC Educational Resources Information Center

Seiderman, Ethel

2009-01-01

Parent Services Project (PSP) is one model of family support that emerged from the heightened awareness of families' needs. Founded in 1980 to integrate family support into four San Francisco Bay Area early childhood programs, PSP since has spread to more than 800 organizations serving 30,000 families in Alaska, California, Delaware, Florida,…

Process for Assembly and Transformation into Saccharomyces cerevisiae of a Synthetic Yeast Artificial Chromosome Containing a Multigene Cassette to Express Enzymes That Enhance Xylose Utilization Designed for an Automated Platform.

PubMed

Hughes, Stephen R; Cox, Elby J; Bang, Sookie S; Pinkelman, Rebecca J; López-Núñez, Juan Carlos; Saha, Badal C; Qureshi, Nasib; Gibbons, William R; Fry, Michelle R; Moser, Bryan R; Bischoff, Kenneth M; Liu, Siqing; Sterner, David E; Butt, Tauseef R; Riedmuller, Steven B; Jones, Marjorie A; Riaño-Herrera, Néstor M

2015-12-01

A yeast artificial chromosome (YAC) containing a multigene cassette for expression of enzymes that enhance xylose utilization (xylose isomerase [XI] and xylulokinase [XKS]) was constructed and transformed into Saccharomyces cerevisiae to demonstrate feasibility as a stable protein expression system in yeast and to design an assembly process suitable for an automated platform. Expression of XI and XKS from the YAC was confirmed by Western blot and PCR analyses. The recombinant and wild-type strains showed similar growth on plates containing hexose sugars, but only recombinant grew on D-xylose and L-arabinose plates. In glucose fermentation, doubling time (4.6 h) and ethanol yield (0.44 g ethanol/g glucose) of recombinant were comparable to wild type (4.9 h and 0.44 g/g). In whole-corn hydrolysate, ethanol yield (0.55 g ethanol/g [glucose + xylose]) and xylose utilization (38%) for recombinant were higher than for wild type (0.47 g/g and 12%). In hydrolysate from spent coffee grounds, yield was 0.46 g ethanol/g (glucose + xylose), and xylose utilization was 93% for recombinant. These results indicate introducing a YAC expressing XI and XKS enhanced xylose utilization without affecting integrity of the host strain, and the process provides a potential platform for automated synthesis of a YAC for expression of multiple optimized genes to improve yeast strains. © 2015 Society for Laboratory Automation and Screening.

Family identity: black-white interracial family health experience.

PubMed

Byrd, Marcia Marie; Garwick, Ann Williams

2006-02-01

The purpose of this interpretive descriptive study was to describe how eight Black-White couples with school-aged children constructed their interracial family identity through developmental transitions and interpreted race to their children. Within and across-case data analytic strategies were used to identify commonalities and variations in how Black men and White women in couple relationships formed their family identities over time. Coming together was the core theme described by the Black-White couples as they negotiated the process of forming a family identity. Four major tasks in the construction of interracial family identity emerged: (a) understanding and resolving family of origin chaos and turmoil, (b) transcending Black-White racial history, (c) articulating the interracial family's racial standpoint, and (d) explaining race to biracial children across the developmental stages. The findings guide family nurses in promoting family identity formation as a component of family health within the nurse-family partnership with Black-White mixed-race families.

Small Families

MedlinePlus

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Family First? The Costs and Benefits of Family Centrality for Adolescents with High-Conflict Families.

PubMed

Yuen, Cynthia X; Fuligni, Andrew J; Gonzales, Nancy; Telzer, Eva H

2018-02-01

Youth who do not identify with or value their families (i.e., low family centrality) are considered to be at risk for maladjustment. However, the current study investigated whether low family centrality may be adaptive in negative family contexts (i.e., high family conflict) because youth's self-worth should be less tied to the quality of their family relationships. Multilevel models using daily diaries and latent variable interactions using longitudinal questionnaires indicated that, among a sample of 428 Mexican American adolescents (49.8% male, M age  = 15.02 years), lower family centrality was generally detrimental to youth's well-being. However, for youth in adverse family environments, low family centrality ceased to function as a risk factor. The present findings suggest that family centrality values play a more nuanced role in youth well-being than previously believed, such that low family centrality may be an adaptive response to significant family challenges.

The gene encoding PBP74/CSA/motalin-1, a novel mouse hsp70, maps to mouse chromosome 18

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ohashi, Manabu; Oyanagi, Mitsuru; Kominami, Ryo

1995-11-20

The 70-kDa heat shock proteins (hsp70) function in folding of peptides and the assembly and disassembly of protein complexes. They are encoded by a multigene family comprising both heat-inducible and constitutively expressed genes. Different family members function in different organelles: hsp70 members such as hsp70 and hsc70 are present in the cytoplasm, BiP/GRP78 in the endoplasmic reticulum, and GRP75 in the mitochondria. PBP74/CSA/motalin-1 is a novel mouse hsp70 protein that was identified by three different groups. PBP74 was found to be a peptide-binding protein implicated in antigen processing. CSA is an antigen specific for the CM strain, and motalin-1 ismore » a protein associated with cellular mortality. 10 refs., 1 fig.« less

Family environment patterns in families with bipolar children.

PubMed

Belardinelli, Cecilia; Hatch, John P; Olvera, Rene L; Fonseca, Manoela; Caetano, Sheila C; Nicoletti, Mark; Pliszka, Steven; Soares, Jair C

2008-04-01

We studied the characteristics of family functioning in bipolar children and healthy comparison children. We hypothesized that the family environment of bipolar children would show greater levels of dysfunction as measured by the Family Environment Scale (FES). We compared the family functioning of 36 families that included a child with DSM-IV bipolar disorder versus 29 comparison families that included only healthy children. All subjects and their parents were assessed with the K-SADS-PL interview. The parents completed the FES to assess their current family functioning. Multivariate analysis of variance was used to compare the family environment of families with and without offspring with bipolar disorder. Parents of bipolar children reported lower levels of family cohesion (p<0.001), expressiveness (p=0.005), active-recreational orientation (p<0.001), intellectual-cultural orientation (p=0.04) and higher levels of conflict (p<0.001) compared to parents with no bipolar children. Secondary analyses within the bipolar group revealed lower levels of organization (p=0.031) and cohesion (p=0.014) in families where a parent had a history of mood disorders compared to families where parents had no history of mood disorders. Length of illness in the affected child was inversely associated with family cohesion (r=-0.47, p=0.004). Due to the case-control design of the study, we cannot comment on the development of these family problems or attribute their cause specifically to child bipolar disorder. Families with bipolar children show dysfunctional patterns related to interpersonal interactions and personal growth. A distressed family environment should be addressed when treating children with bipolar disorder.

Family Efficacy within Ethnically Diverse Families: A Qualitative Study.

PubMed

Kao, Tsui-Sui A; Caldwell, Cleopatra H

2017-03-01

Family efficacy, which refers to a family's belief in its ability to produce a desired outcome, has been shown to protect adolescents from risky health behaviors. Few studies have examined family efficacy within diverse populations, however, and understanding of how efficacy is framed and formed within the context of cultural and familial values is limited. This descriptive qualitative study examined sources of family efficacy within ethnically and socioeconomically diverse families, evaluating how such families develop and exercise family efficacy with the intent to protect adolescents from risky health behaviors (i.e., marijuana and alcohol use and early sexual activity). We collected qualitative data via two semi-structured interviews, 4-6 months apart, with 31 adolescents (ages 12-14) and their parent/s, for total of 148 one-on-one interviews. Thematic analysis identified three distinct domains of family efficacy: relational, pragmatic, and value-laden. Prior experiences and cultural background influenced the domain/s utilized by families. Significantly, families that consistently tapped into all three domains were able to effectively manage personal and family difficulties; these families also had family strategies in place to prevent adolescents from risky behaviors. Health professionals could utilize this concept of multidimensional family efficacy to promote health within culturally diverse families. © 2015 Family Process Institute.

Assessing the 5S ribosomal RNA heterogeneity in Arabidopsis thaliana using short RNA next generation sequencing data.

PubMed

Szymanski, Maciej; Karlowski, Wojciech M

2016-01-01

In eukaryotes, ribosomal 5S rRNAs are products of multigene families organized within clusters of tandemly repeated units. Accumulation of genomic data obtained from a variety of organisms demonstrated that the potential 5S rRNA coding sequences show a large number of variants, often incompatible with folding into a correct secondary structure. Here, we present results of an analysis of a large set of short RNA sequences generated by the next generation sequencing techniques, to address the problem of heterogeneity of the 5S rRNA transcripts in Arabidopsis and identification of potentially functional rRNA-derived fragments.

Paralog-Specific Patterns of Structural Disorder and Phosphorylation in the Vertebrate SH3-SH2-Tyrosine Kinase Protein Family.

PubMed

Dos Santos, Helena G; Siltberg-Liberles, Jessica

2016-09-19

One of the largest multigene families in Metazoa are the tyrosine kinases (TKs). These are important multifunctional proteins that have evolved as dynamic switches that perform tyrosine phosphorylation and other noncatalytic activities regulated by various allosteric mechanisms. TKs interact with each other and with other molecules, ultimately activating and inhibiting different signaling pathways. TKs are implicated in cancer and almost 30 FDA-approved TK inhibitors are available. However, specific binding is a challenge when targeting an active site that has been conserved in multiple protein paralogs for millions of years. A cassette domain (CD) containing SH3-SH2-Tyrosine Kinase domains reoccurs in vertebrate nonreceptor TKs. Although part of the CD function is shared between TKs, it also presents TK specific features. Here, the evolutionary dynamics of sequence, structure, and phosphorylation across the CD in 17 TK paralogs have been investigated in a large-scale study. We establish that TKs often have ortholog-specific structural disorder and phosphorylation patterns, while secondary structure elements, as expected, are highly conserved. Further, domain-specific differences are at play. Notably, we found the catalytic domain to fluctuate more in certain secondary structure elements than the regulatory domains. By elucidating how different properties evolve after gene duplications and which properties are specifically conserved within orthologs, the mechanistic understanding of protein evolution is enriched and regions supposedly critical for functional divergence across paralogs are highlighted. © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

Family Therapy, Family Practice, and Child and Family Poverty: Historical Perspectives and Recent Developments

ERIC Educational Resources Information Center

Frankel, Harvy; Frankel, Sid

2006-01-01

This paper assesses the engagement of family therapy and family practice with families with children, who are living in poverty. It analyzes four promising models from two perspectives. The first perspective relates to critiques, which have been made of the practice of family therapy with families living in poverty; and the second relates to the…

Family Ties: The Role of Family Context in Family Health History Communication about Cancer

PubMed Central

Rodríguez, Vivian M.; Corona, Rosalie; Bodurtha, Joann N.; Quillin, John M.

2016-01-01

Family health history about cancer is an important prevention and health promotion tool. Yet, few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. Average age was 34 years, 59% identified as Black, 31% graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that, in turn, inform cancer prevention interventions. PMID:26735646

Family Ties: The Role of Family Context in Family Health History Communication About Cancer.

PubMed

Rodríguez, Vivian M; Corona, Rosalie; Bodurtha, Joann N; Quillin, John M

2016-01-01

Family health history about cancer is an important prevention and health promotion tool. Yet few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. The women's average age was 34 years, 59% identified as Black, 31% had graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy, and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that in turn inform cancer prevention interventions.

Family Psychology and Family Therapy in Japan.

ERIC Educational Resources Information Center

Kameguchi, Kenji; Murphy-Shigematsu, Stephen

2001-01-01

Reviews the development of family psychology and family therapy in Japan, tracing the origins of these movements, explaining how these fields were activated by the problem of school refusal, and describing an approach to family therapy that has been developed to work with families confronting this problem, as well as preventive programs of family…

Engaging Families in In-Home Family Intervention

ERIC Educational Resources Information Center

Thompson, Ronald W.; Koley, Sarah

2014-01-01

Boys Town has created a program called In-Home Family Services to deliver help to families in stress. In-home family intervention programs have become widely used to help more families who are at risk and experiencing difficulties with a wide range of problems including domestic violence, child behavior problems, parent-child and family…

Putting the "family" back into family therapy.

PubMed

Breunlin, Douglas C; Jacobsen, Elizabeth

2014-09-01

In this article, we examine the field of family therapy by drawing a distinction between two forms of practice: Whole Family Therapy (WFT), defined as treating the whole family, and Relational Family Therapy (RFT), defined as working with a subsystem of the family or an individual while retaining a systemic lens. Our thesis is that the practice of WFT has been in decline for some time and steps must be taken to keep it from becoming a defunct practice. We consider the trajectory of WFT and RFT throughout the development of family therapy through reference to the people, the literature, training, and practice patterns associated with family therapy. We remind the reader of the many benefits of WFT and suggest that today WFT is likely to be practiced in conjunction with RFT and individual therapy. Since training of family therapists today is largely located in degree-granting programs, we identify constraints to including WFT in such programs. We conclude by offering suggestions that can enhance a program's ability to train students in WFT. © 2014 FPI, Inc.

From Family Deficit to Family Strength: Viewing Families' Contributions to Children's Learning from a Family Resilience Perspective

ERIC Educational Resources Information Center

Amatea, Ellen S.; Smith-Adcock, Sondra; Villares, Elizabeth

2006-01-01

This article presents an overview of a research-informed family resilience framework, developed as a conceptual map to guide school counselors' preventive and interventive efforts with students and their families. Key processes that characterize children's and families' resilience are outlined along with recommendations for how school counselors…

Family Structure and Child Well-Being: Integrating Family Complexity

PubMed Central

Brown, Susan L.; Manning, Wendy D.; Stykes, J. Bart

2014-01-01

Although children’s family lives are diverse, the measurement of children’s living arrangements has lagged, focusing on the relationships of children to parents while largely ignoring sibling composition. Using data from the 2008 Survey of Income and Program Participation (N = 23,985) the authors documented patterns of family complexity among a nationally representative sample of children ages 0–17 living in a range of family structures. They also examined the independent and joint associations of family structure and family complexity on child economic well-being. Family complexity was independently related to economic disadvantage, namely, a lower income-to-needs ratio and a higher likelihood of public assistance receipt. The role of family complexity was partially contingent on family structure, with the positive association between family complexity and receipt of public assistance more pronounced for children in families with 2 married biological parents. This study demonstrates the utility of integrating family structure and family complexity in studies of children’s well-being. PMID:25620810

Family Life Goes On: Disability in Contemporary Families

PubMed Central

Farrell, Anne F.; Krahn, Gloria L.

2015-01-01

Disability is part of life for most contemporary families, but to date the literature on disability in families is fragmented and narrow. This editorial commentary introduces the content and findings of peer-reviewed articles appearing in a special issue of Family Relations. The editors outline unanswered but core research questions and preview the themes present in the issue: families with disabilities are diverse; economic hardship disproportionately characterizes their lives; family life with disabilities is a journey that includes stress and resilience, with support contributing significantly to the latter; and that work benefits and taxes family life. Articles extrapolate beyond findings to explore implications for family policy and practice. The editors assert that developing understanding of how disability influences families requires a more diverse and rigorous research portfolio. They further cite the need to embed disability as a variable in a range of family studies and advocate more outlets for publication. PMID:26185356

Molecular phylogeny of the Achatinoidea (Mollusca: Gastropoda).

PubMed

Fontanilla, Ian Kendrich; Naggs, Fred; Wade, Christopher Mark

2017-09-01

This study presents a multi-gene phylogenetic analysis of the Achatinoidea and provides an initial basis for a taxonomic re-evaluation of family level groups within the superfamily. A total of 5028 nucleotides from the nuclear rRNA, actin and histone 3 genes and the 1st and 2nd codon positions of the mitochondrial cytochrome c oxidase subunit I gene were sequenced from 24 species, representing six currently recognised families. Results from maximum likelihood, neighbour joining, maximum parsimony and Bayesian inference trees revealed that, of currently recognised families, only the Achatinidae are monophyletic. For the Ferussaciidae, Ferussacia folliculus fell separately to Cecilioides gokweanus and formed a sister taxon to the rest of the Achatinoidea. For the Coeliaxidae, Coeliaxis blandii and Pyrgina umbilicata did not group together. The Subulinidae was not resolved, with some subulinids clustering with the Coeliaxidae and Thyrophorellidae. Three subfamilies currently included within the Subulinidae based on current taxonomy likewise did not form monophyletic groups. Copyright © 2017 Elsevier Inc. All rights reserved.

"Not a Real Family": Microaggressions Directed toward LGBTQ Families.

PubMed

Haines, Kari M; Boyer, C Reyn; Giovanazzi, Casey; Galupo, M Paz

2018-01-01

The present study investigates microaggressions toward individuals in lesbian, gay, bisexual, transgender, and queer (LGBTQ) families. Microaggressions are subtle forms of discrimination experienced on a daily basis as verbal or behavioral slights against individuals in oppressed groups. LGBTQ microaggressions are often studied at an individual level and understood as being directed toward an individual based on perceived identity. The present study allows for an understanding of bias directed at the family system level. Participants included 46 adults who identified as being part of an LGBTQ family. Participants completed an online questionnaire and described their experiences of LGBTQ family microaggressions. Thematic analysis revealed that LGBTQ family microaggressions were salient to individuals across multiple family roles. Three specific themes emerged: family legitimacy, conflicts with family values, and gender violation within family. These findings highlight the way LGBTQ microaggressions are influenced by cultural notions of family and impact the family system.

Family Demands, Social Support and Family Functioning in Taiwanese Families Rearing Children with Down Syndrome

ERIC Educational Resources Information Center

Hsiao, C-Y.

2014-01-01

Background: Down syndrome (DS) affects not only children but also their families. Much remains to be learned about factors that influence how families of children with DS function, especially families in non-Western populations. The purpose of this cross-sectional, correlational study was to examine how family demographics, family demands and…

Familial mesothelioma: a report of two families

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hammar, S.P.; Bockus, D.; Remington, F.

1989-02-01

Five reports of familial mesothelioma in which mesotheliomas occurred in two or more family members have been recorded in the medical literature. In this report, we describe two examples of familial mesothelioma. In one family, three brothers who worked in the asbestos insulation industry developed mesothelioma. In the second family, the father, who was occupationally exposed to asbestos, died from a tubulopapillary peritoneal mesothelioma 11 years before his son died from an identical histologic type of peritoneal mesothelioma. Our report, as with those previously recorded, suggests that genetic factors may be important in the genesis of some mesotheliomas.

The Alcohol Dehydrogenase Gene Family in Melon (Cucumis melo L.): Bioinformatic Analysis and Expression Patterns

PubMed Central

Jin, Yazhong; Zhang, Chong; Liu, Wei; Tang, Yufan; Qi, Hongyan; Chen, Hao; Cao, Songxiao

2016-01-01

Alcohol dehydrogenases (ADH), encoded by multigene family in plants, play a critical role in plant growth, development, adaptation, fruit ripening and aroma production. Thirteen ADH genes were identified in melon genome, including 12 ADHs and one formaldehyde dehydrogenease (FDH), designated CmADH1-12 and CmFDH1, in which CmADH1 and CmADH2 have been isolated in Cantaloupe. ADH genes shared a lower identity with each other at the protein level and had different intron-exon structure at nucleotide level. No typical signal peptides were found in all CmADHs, and CmADH proteins might locate in the cytoplasm. The phylogenetic tree revealed that 13 ADH genes were divided into three groups respectively, namely long-, medium-, and short-chain ADH subfamily, and CmADH1,3-11, which belongs to the medium-chain ADH subfamily, fell into six medium-chain ADH subgroups. CmADH12 may belong to the long-chain ADH subfamily, while CmFDH1 may be a Class III ADH and serve as an ancestral ADH in melon. Expression profiling revealed that CmADH1, CmADH2, CmADH10 and CmFDH1 were moderately or strongly expressed in different vegetative tissues and fruit at medium and late developmental stages, while CmADH8 and CmADH12 were highly expressed in fruit after 20 days. CmADH3 showed preferential expression in young tissues. CmADH4 only had slight expression in root. Promoter analysis revealed several motifs of CmADH genes involved in the gene expression modulated by various hormones, and the response pattern of CmADH genes to ABA, IAA and ethylene were different. These CmADHs were divided into ethylene-sensitive and –insensitive groups, and the functions of CmADHs were discussed. PMID:27242871

Family Care Responsibilities and Employment: Exploring the Impact of Type of Family Care on Work-Family and Family-Work Conflict

ERIC Educational Resources Information Center

Stewart, Lisa M.

2013-01-01

This study compared work-family and family-work conflict for employed family caregivers with disability-related care responsibilities in contrast to employed family caregivers with typical care responsibilities. Using data from the 2002 National Study of the Changing Workforce, a population-based survey of the U.S. workforce, formal and informal…

Epidermal growth factor receptor and AKT1 gene copy numbers by multi-gene fluorescence in situ hybridization impact on prognosis in breast cancer.

PubMed

Li, Jiao; Su, Wei; Zhang, Sheng; Hu, Yunhui; Liu, Jingjing; Zhang, Xiaobei; Bai, Jingchao; Yuan, Weiping; Hu, Linping; Cheng, Tao; Zetterberg, Anders; Lei, Zhenmin; Zhang, Jin

2015-05-01

The epidermal growth factor receptor (EGFR)/PI3K/AKT signaling pathway aberrations play significant roles in breast cancer occurrence and development. However, the status of EGFR and AKT1 gene copy numbers remains unclear. In this study, we showed that the rates of EGFR and AKT1 gene copy number alterations were associated with the prognosis of breast cancer. Among 205 patients, high EGFR and AKT1 gene copy numbers were observed in 34.6% and 27.8% of cases by multi-gene fluorescence in situ hybridization, respectively. Co-heightened EGFR/AKT1 gene copy numbers were identified in 11.7% cases. No changes were found in 49.3% of patients. Although changes in EGFR and AKT1 gene copy numbers had no correlation with patients' age, tumor stage, histological grade and the expression status of other molecular makers, high EGFR (P = 0.0002) but not AKT1 (P = 0.1177) gene copy numbers correlated with poor 5-year overall survival. The patients with co-heightened EGFR/AKT1 gene copy numbers displayed a poorer prognosis than those with tumors with only high EGFR gene copy numbers (P = 0.0383). Both Univariate (U) and COX multivariate (C) analyses revealed that high EGFR and AKT1 gene copy numbers (P = 0.000 [U], P = 0.0001 [C]), similar to histological grade (P = 0.001 [U], P = 0.012 [C]) and lymph node metastasis (P = 0.046 [U], P = 0.158 [C]), were independent prognostic indicators of 5-year overall survival. These results indicate that high EGFR and AKT1 gene copy numbers were relatively frequent in breast cancer. Co-heightened EGFR/AKT1 gene copy numbers had a worse outcome than those with only high EGFR gene copy numbers, suggesting that evaluation of these two genes together may be useful for selecting patients for anti-EGFR-targeted therapy or anti-EGFR/AKT1-targeted therapy and for predicting outcomes. © 2015 The Authors. Cancer Science published by Wiley Publishing Asia Pty Ltd on behalf of Japanese Cancer Association.

Family environment of bipolar families: a UK study.

PubMed

Barron, Evelyn; Sharma, Aditya; Le Couteur, James; Rushton, Stephen; Close, Andrew; Kelly, Thomas; Grunze, Heinz; Nicol Ferrier, Ian; Le Couteur, Ann

2014-01-01

Aspects of family environment (FE) such as family support, organisational structure and levels of conflict can increase risk of Bipolar Disorder (BD) in offspring of BD parents. The family environment of 16 BD and 23 healthy control (HC) families was assessed using the Family Environment Scale (FES). Canonical Correspondence Analysis (CCA) was used to determine the degree of variation in scores on the FES dimensions within each family and a Generalised Linear Modelling (GLM) approach was used to investigate the extent to which scores on the different FES dimensions differed between families. On the FES, BD families experienced an environment with higher levels of conflict and lower levels of expressiveness, organisation, intellectual-cultural orientation and active-recreational orientation than healthy control families. Differences in FES scores were driven by presence of parental BD and total number of children in the family. However, socio-economic status (SES) was not found to have an effect in this study. As an American instrument the FES may not have been sensitive enough to the cultural context of a UK sample. The relatively small sample size used may have limited the statistical power of the study. Greater numbers of children have the same effect on levels of conflict as the presence of BD, while SES does not appear to be as important a factor in FE as previously thought. Our results suggest that family based interventions focusing on psychoeducation and improved communication within these families may address issues of conflict, organisation and expressiveness. Crown Copyright © 2013 Published by Elsevier B.V. All rights reserved.

Polymerase Chain Reaction (PCR) applications in white pine blister rust resistance screening

Treesearch

Sam Hendricks; Wendy Sutton; Jeffrey Stone; Richard Sniezko; Angelia Kegley; Anna Schoettle

2011-01-01

A goal of breeding programs for resistance to white pine blister rust is the development of multigenic resistance, even if the genetics and mechanisms of resistance may be imperfectly understood. The goal of multigenic resistance has prompted efforts to categorize host resistance reactions at increasingly finer scales, to identify heritable traits that may confer...

Family Therapy

MedlinePlus

Family therapy Overview Family therapy is a type of psychological counseling (psychotherapy) that can help family members improve communication and resolve conflicts. Family therapy is usually provided by a psychologist, ...

Family Therapy "Lite"? How Family Counsellors Conceptualise Their Primary Care Family Work

ERIC Educational Resources Information Center

Smith, Harriet; Moller, Naomi P.; Vossler, Andreas

2017-01-01

A number of current developments in the field potentially provide opportunities for preventative relationship and family interventions to be integrated into primary care. In this context, it is important to understand what family counselling is and how it might differ from family therapy. Thus, this paper investigates how the service of one…

The Family, Family Therapy, and Borderline Personality Disorder

PubMed Central

GLICK, IRA D.; DULIT, REBECCA A.; WACHTER, EILEEN; CLARKIN, JOHN F.

1995-01-01

The authors review recent controlled studies on the interrelationship of the family and its members with borderline disorder and propose a new model for understanding and managing this relationship. The focus of the model is on psychopathology, evaluation, and treatment of patient and family as they influence each other. In the authors’ view this illness originates in cerebral dysfunction, in the patient in combination with impaired relationships among family members. When the family is available, we believe that the treatment of choice is a multimodal approach involving family psychoeducation and family systems or dynamic intervention where possible, in combination with medications, individual psychotherapy, or both. PMID:22700254

Getting a High-Speed Family Connection: Associations between Family Media Use and Family Connection

ERIC Educational Resources Information Center

Padilla-Walker, Laura M.; Coyne, Sarah M.; Fraser, Ashley M.

2012-01-01

The way families have used the media has substantially changed over the past decade. Within the framework of family systems theory, this paper examines the relations between family media use and family connection in a sample of 453 adolescents (mean age of child = 14.32 years, SD = 0.98, 52% female) and their parents. Results revealed that cell…

Associations between family characteristics and parental empowerment in the family, family service situations and the family service system.

PubMed

Vuorenmaa, M; Perälä, M-L; Halme, N; Kaunonen, M; Åstedt-Kurki, P

2016-01-01

Parental empowerment signifies parents' sense of confidence in managing their children, interacting with services that their children use and improving child care services. High empowerment is associated with parents' resilience to demands and their confidence to make decisions and take actions that positively affect their families. Most families with children access various healthcare and education services. Professionals working in these services are therefore ideally placed to reinforce parental empowerment. However, little is known about the characteristics associated with parental empowerment within a generic sample of parents or in the context of basic child care services. The aim of this study was to assess how family characteristics are associated with maternal and paternal empowerment in the family, in service situations and in the service system. Parental empowerment was measured among 955 parents (mothers = 571; fathers = 384) of children aged 0-9 years using the Generic Family Empowerment Scale. Family characteristics were assessed through questions on children, parents and the life situation. Associations between empowerment and family characteristics were evaluated using one-way analysis of variance and t-test. Parental empowerment was predicted by multiple linear regression analysis. Parents' concerns related to their parenting, such as whether they possessed sufficient skills as a parent or losing their temper with children, as well as experiences of stress in everyday life, were negatively associated with all dimensions of maternal and paternal empowerment. Both determinants were more common and more significant in empowerment than child-related problems. Promoting parental self-confidence and providing appropriate emotional and concrete support for everyday functioning may reinforce parental empowerment, thereby enhancing families' well-being and coping, as well as improving their access to required services and timely support. Finally

Jamaican families.

PubMed

Miner, Dianne Cooney

2003-01-01

The study of the family in the Caribbean originated with European scholars who assumed the universality of the patriarchal nuclear family and the primacy of this structure to the healthy functioning of society. Matrifocal Caribbean families thus were seen as chaotic and disorganized and inadequate to perform the essential tasks of the social system. This article provides a more current discussion of the Jamaican family. It argues that its structure is the result of the agency and adaptation of its members and not the root cause of the increasing marginalization of peoples in the developing world. The article focuses on families living in poverty and how the family structure supports essential family functions, adaptations, and survival.

Roles for Msx and Dlx homeoproteins in vertebrate development.

PubMed

Bendall, A J; Abate-Shen, C

2000-04-18

This review provides a comparative analysis of the expression patterns, functions, and biochemical properties of Msx and Dlx homeobox genes. These comprise multi-gene families that are closely related with respect to sequence features as well as expression patterns during vertebrate development. Thus, members of the Msx and Dlx families are expressed in overlapping, but distinct, patterns and display complementary or antagonistic functions, depending upon the context. A common theme shared among Msx and Dlx genes is that they are required during early, middle, and late phases of development where their differential expression mediates patterning, morphogenesis, and histogenesis of tissues in which they are expressed. With respect to their biochemical properties, Msx proteins function as transcriptional repressors, while Dlx proteins are transcriptional activators. Moreover, their ability to oppose each other's transcriptional actions implies a mechanism underlying their complementary or antagonistic functions during development.

Family Capital: Implications for Interventions with Families

ERIC Educational Resources Information Center

Belcher, John R.; Peckuonis, Edward V.; Deforge, Bruce R.

2011-01-01

Social capital has been extensively discussed in the literature as building blocks that individuals and communities utilize to leverage system resources. Similarly, some families also create capital, which can enable members of the family, such as children, to successfully negotiate the outside world. Families in poverty confront serious…

Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.

PubMed

Giri, Veda N; Knudsen, Karen E; Kelly, William K; Abida, Wassim; Andriole, Gerald L; Bangma, Chris H; Bekelman, Justin E; Benson, Mitchell C; Blanco, Amie; Burnett, Arthur; Catalona, William J; Cooney, Kathleen A; Cooperberg, Matthew; Crawford, David E; Den, Robert B; Dicker, Adam P; Eggener, Scott; Fleshner, Neil; Freedman, Matthew L; Hamdy, Freddie C; Hoffman-Censits, Jean; Hurwitz, Mark D; Hyatt, Colette; Isaacs, William B; Kane, Christopher J; Kantoff, Philip; Karnes, R Jeffrey; Karsh, Lawrence I; Klein, Eric A; Lin, Daniel W; Loughlin, Kevin R; Lu-Yao, Grace; Malkowicz, S Bruce; Mann, Mark J; Mark, James R; McCue, Peter A; Miner, Martin M; Morgan, Todd; Moul, Judd W; Myers, Ronald E; Nielsen, Sarah M; Obeid, Elias; Pavlovich, Christian P; Peiper, Stephen C; Penson, David F; Petrylak, Daniel; Pettaway, Curtis A; Pilarski, Robert; Pinto, Peter A; Poage, Wendy; Raj, Ganesh V; Rebbeck, Timothy R; Robson, Mark E; Rosenberg, Matt T; Sandler, Howard; Sartor, Oliver; Schaeffer, Edward; Schwartz, Gordon F; Shahin, Mark S; Shore, Neal D; Shuch, Brian; Soule, Howard R; Tomlins, Scott A; Trabulsi, Edouard J; Uzzo, Robert; Vander Griend, Donald J; Walsh, Patrick C; Weil, Carol J; Wender, Richard; Gomella, Leonard G

2018-02-01

Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing. There was strong consensus to test HOXB13 for suspected hereditary PCA, BRCA1/2 for suspected hereditary breast and ovarian cancer, and DNA mismatch repair genes for suspected Lynch syndrome. There was strong consensus to factor BRCA2 mutations into PCA screening discussions. BRCA2 achieved moderate consensus for factoring into early-stage management discussion, with stronger consensus in high-risk/advanced and metastatic setting. Agreement was moderate to test all men with metastatic castration-resistant PCA, regardless of family history, with stronger agreement to test BRCA1/2 and moderate agreement to test ATM to inform prognosis and targeted therapy. Conclusion To our knowledge, this is the first comprehensive, multidisciplinary consensus statement to address a genetic evaluation framework for inherited PCA in the multigene testing era. Future research should focus on developing a working definition of familial PCA for clinical genetic testing, expanding understanding of genetic contribution to aggressive PCA, exploring clinical use of genetic testing for PCA management, genetic testing of African American males, and addressing the value framework of genetic evaluation and testing men at risk for PCA-a clinically heterogeneous disease.

Amino acid transporter expansions associated with the evolution of obligate endosymbiosis in sap-feeding insects (Hemiptera: sternorrhyncha).

PubMed

Dahan, Romain A; Duncan, Rebecca P; Wilson, Alex C C; Dávalos, Liliana M

2015-03-25

Mutualistic obligate endosymbioses shape the evolution of endosymbiont genomes, but their impact on host genomes remains unclear. Insects of the sub-order Sternorrhyncha (Hemiptera) depend on bacterial endosymbionts for essential amino acids present at low abundances in their phloem-based diet. This obligate dependency has been proposed to explain why multiple amino acid transporter genes are maintained in the genomes of the insect hosts. We implemented phylogenetic comparative methods to test whether amino acid transporters have proliferated in sternorrhynchan genomes at rates grater than expected by chance. By applying a series of methods to reconcile gene and species trees, inferring the size of gene families in ancestral lineages, and simulating the null process of birth and death in multi-gene families, we uncovered a 10-fold increase in duplication rate in the AAAP family of amino acid transporters within Sternorrhyncha. This gene family expansion was unmatched in other closely related clades lacking endosymbionts that provide essential amino acids. Our findings support the influence of obligate endosymbioses on host genome evolution by both inferring significant expansions of gene families involved in symbiotic interactions, and discovering increases in the rate of duplication associated with multiple emergences of obligate symbiosis in Sternorrhyncha.

Family medical leave as a resilience resource for family caregivers.

PubMed

Swanke, Jayme; Zeman, Laura Dreuth

2009-01-01

Case managers mobilize family networks to care for patients. Family medical leave can be a resource for case managers who seek to enhance resilience among family caregivers. The Family Medical Leave Act, passed in 1993, was the first U.S. policy to regulate employee leaves from work for family care purposes (29 CFR 825.102). This policy offers family caregivers increased flexibility and equality. Current and emerging policies also can reduce financial strain. The discussion examines how case managers can integrate family medical leave into best-practice models to support patients and family caregivers.

Normal Functioning Family

MedlinePlus

... Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families ...

Where are family theories in family-based obesity treatment?: conceptualizing the study of families in pediatric weight management

PubMed Central

Skelton, JA; Buehler, C; Irby, MB; Grzywacz, JG

2014-01-01

Family-based approaches to pediatric obesity treatment are considered the ‘gold-standard,’ and are recommended for facilitating behavior change to improve child weight status and health. If family-based approaches are to be truly rooted in the family, clinicians and researchers must consider family process and function in designing effective interventions. To bring a better understanding of family complexities to family-based treatment, two relevant reviews were conducted and are presented: (1) a review of prominent and established theories of the family that may provide a more comprehensive and in-depth approach for addressing pediatric obesity; and (2) a systematic review of the literature to identify the use of prominent family theories in pediatric obesity research, which found little use of theories in intervention studies. Overlapping concepts across theories include: families are a system, with interdependence of units; the idea that families are goal-directed and seek balance; and the physical and social environment imposes demands on families. Family-focused theories provide valuable insight into the complexities of families. Increased use of these theories in both research and practice may identify key leverage points in family process and function to prevent the development of or more effectively treat obesity. The field of family studies provides an innovative approach to the difficult problem of pediatric obesity, building on the long-established approach of family-based treatment. PMID:22531090

Perceived Family Functioning and Family Resources of Hong Kong Families: Implications for Social Work Practice

ERIC Educational Resources Information Center

Ma, Joyce L. C.; Wong, Timothy K. Y.; Lau, Luk King; Pun, Shuk Han

2009-01-01

This article reports the results of a telephone survey (n = 1,015 respondents) that aims to identify the perceived general family functioning and family resources of Hong Kong Chinese families and their linkage to each other in a rapidly transforming society. The perceived general family functioning of the respondents was average, and the five…

Determination of Wolbachia Diversity in Butterflies from Western Ghats, India, by a Multigene Approach

PubMed Central

Salunke, Bipinchandra K.; Salunkhe, Rahul C.; Dhotre, Dhiraj P.; Walujkar, Sandeep A.; Khandagale, Avinash B.; Chaudhari, Rahul; Chandode, Rakesh K.; Ghate, Hemant V.; Patole, Milind S.; Werren, John H.

2012-01-01

Members of the genus Wolbachia are intracellular bacteria that are widespread in arthropods and establish diverse symbiotic associations with their hosts, ranging from mutualism to parasitism. Here we present the first detailed analyses of Wolbachia in butterflies from India with screening of 56 species. Twenty-nine species (52%) representing five families were positive for Wolbachia. This is the first report of Wolbachia infection in 27 of the 29 species; the other two were reported previously. This study also provides the first evidence of infection in the family Papilionidae. A striking diversity was observed among Wolbachia strains in butterfly hosts based on five multilocus sequence typing (MLST) genes, with 15 different sequence types (STs). Thirteen STs are new to the MLST database, whereas ST41 and ST125 were reported earlier. Some of the same host species from this study carried distinctly different Wolbachia strains, whereas the same or different butterfly hosts also harbored closely related Wolbachia strains. Butterfly-associated STs in the Indian sample originated by recombination and point mutation, further supporting the role of both processes in generating Wolbachia diversity. Recombination was detected only among the STs in this study and not in those from the MLST database. Most of the strains were remarkably similar in their wsp genotype, despite divergence in MLST. Only two wsp alleles were found among 25 individuals with complete hypervariable region (HVR) peptide profiles. Although both wsp and MLST show variability, MLST gives better separation between the strains. Completely different STs were characterized for the individuals sharing the same wsp alleles. PMID:22504801

Identification and sequencing of members of a drought-induced multigene family in Atriplex canescens (salt bush)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Jing Chen; Cairney, J.; Newton, R.J.

1991-05-01

Atriplex canescens (Pursh.) Nutt. is known to have a high degree of morphological and physiological drought-tolerance, which appears to be related to molecular responses. A cDNA library, constructed from drought-induced messenger RNA, was differentially screened with radioactively labelled cDNA probes synthesized from mRNA extracted from stressed and non-stressed Atriplex. Two clones named 19-3 and 27-3, whose expression is induced by drought-stress, have been characterized. Sequence analysis shows that they are more than 96% homologous. Each clone has an open reading frame which specifies a protein of 95 amino acids (12.77 kDa and 12.74 kDa respectively.) In vitro transcription and translationmore » of each clone results in a single protein of apparent molecular weight 8.6 kDa. The disparity in size may be due to secondary structure, dictated, at least in part, by a highly charged carboxy terminus which may be important for the function of these proteins in drought tolerance.« less

A multigene family related to chitin synthase genes of yeast in the opportunistic pathogen Aspergillus fumigatus.

PubMed

Mellado, E; Aufauvre-Brown, A; Specht, C A; Robbins, P W; Holden, D W

1995-02-06

Two approaches were used to isolate fragments of chitin synthase genes from the opportunistic human pathogen Aspergillus fumigatus. Firstly, regions of amino acid conservation in chitin synthases of Saccharomyces cerevisiae were used to design degenerate primers for amplification of portions of related genes, and secondly, a segment of the S. cerevisiae CSD2 gene was used to screen an A. fumigatus lambda genomic DNA library. the polymerase chain reaction (PCR)-based approach led to the identification of five different genes, designated chsA, chsB, chsC, chsD and chsE. chsA, chsB, and chsC fall into Classes I, II and III of the 'zymogen type' chitin synthases, respectively. The chsD fragment has approximately 35% amino acid sequence identity to both the zymogen type genes and the non-zymogen type CSD2 gene. chsF appears to be a homologue of CSD2, being 80% identical to CSD2 over 100 amino acids. An unexpected finding was the isolation by heterologous hybridization of another gene (chsE), which also has strong sequence similarity (54% identity at the amino acid level over the same region as chsF) to CSD2. Reverse transcriptase-PCR was used to show that each gene is expressed during hyphal growth in submerged cultures.

Family Centers

DTIC Science & Technology

1992-12-30

34 Family Policy," December 30, 1988 o / (b) DoD Directive 4001.1, "Installation Management ,, September 4, 1986 (c) DoD 4165.63-M, "DoD Housing Management ... managing the competing demands of the military mission and the family . They shall provide the information and family services necessary to support single...effectiveness of Family Centers. The evaluation system shall include: (1) A management information report to allow Family Centers to reflect actual workloads

Family System Characteristics, Parental Behaviors, and Adolescent Family Life Satisfaction.

ERIC Educational Resources Information Center

Henry, Carolyn S.

1994-01-01

Describes investigation examining adolescents' perceptions of overall family system characteristics, parental behaviors, and demographic factors in relation to adolescent family life satisfaction. Results indicate family bonding, family flexibility, parental support, and adolescent age are positively related to adolescent family life satisfaction,…

Use of family management styles in family intervention research.

PubMed

Alderfer, Melissa A

2006-01-01

Family management styles (FMSs) explain some of the complexities embedded in a family with a child who has chronic illness. The FMS typologies provide descriptions of family adjustment and management of care. These 5 distinct patterns may be valuable in tailoring and evaluating family interventions in research.

Family Privilege

ERIC Educational Resources Information Center

Seita, John R.

2014-01-01

Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

Small Family, Smart Family? Family Size and the IQ Scores of Young Men

ERIC Educational Resources Information Center

Black, Sandra E.; Devereux, Paul J.; Salvanes, Kjell G.

2010-01-01

This paper uses Norwegian data to estimate the effect of family size on IQ scores of men. Instrumental variables (IV) estimates using sex composition as an instrument show no significant negative effect of family size; however, IV estimates using twins imply that family size has a negative effect on IQ scores. Our results suggest that the effect…

Understanding familial and non-familial renal cell cancer.

PubMed

Bodmer, Daniëlle; van den Hurk, Wilhelmina; van Groningen, Jan J M; Eleveld, Marc J; Martens, Gerard J M; Weterman, Marian A J; van Kessel, Ad Geurts

2002-10-01

Molecular genetic analysis of familial and non-familial cases of conventional renal cell carcinoma (RCC) revealed a critical role(s) for multiple genes on human chromosome 3. For some of these genes, e.g. VHL, such a role has been firmly established, whereas for others, definite confirmation is still pending. Additionally, a novel role for constitutional chromosome 3 translocations as risk factors for conventional RCC development is rapidly emerging. Also, several candidate loci have been mapped to other chromosomes in both familial and non-familial RCCs of distinct histologic subtypes. The MET gene on chromosome 7, for example, was found to be involved in both forms of papillary RCC. A PRCC-TFE3 fusion gene is typically encountered in t(X;1)-positive non-familial papillary RCCs and results in abrogation of the cell cycle mitotic spindle checkpoint in a dominant-negative fashion, thus leading to RCC. Together, these data turn human RCC into a model system in which different aspects of both familial and non-familial syndromes may act as novel paradigms for cancer development.

Family Structure, Family Processes, and Adolescent Smoking and Drinking*

PubMed Central

Brown, Susan L.; Rinelli, Lauren N.

2010-01-01

This study examined whether family structure was associated with adolescent risk behaviors, including smoking and drinking. Family living arrangements have become increasingly diverse, yet research on adolescent risk behaviors has typically relied on measures of family structure that do not adequately capture this diversity. Data from the 1994-95 National Longitudinal Study of Adolescent Health were used to conduct logistic regression analyses that revealed adolescents in two biological married parent families were least likely to smoke or drink, whereas adolescents in cohabiting stepfamilies were most likely. Those in single-mother families and married stepfamilies were in between. Maternal socialization was related to reduced odds of smoking and drinking. Maternal modeling was positively associated with smoking and drinking. Family structure is indicative of distinct family processes that are linked to risky behaviors among adolescents. PMID:20543893

Family Support & Health Care: Working Together for Healthy Families.

ERIC Educational Resources Information Center

Lalley, Jacqueline, Ed.; Ahsan, Nilofer, Ed.

1998-01-01

This report of the Family Resource Coalition of America examines partnerships between family support programs and health care providers, forged to ensure that the comprehensive needs of families are met. The report begins with two articles, "Family Support and the Emerging Health System" and "Social and Economic Issues Affecting…

Family pediatrics: report of the Task Force on the Family.

PubMed

Schor, Edward L

2003-06-01

WHY A TASK FORCE ON THE FAMILY? The practice of pediatrics is unique among medical specialties in many ways, among which is the nearly certain presence of a parent when health care services are provided for the patient. Regardless of whether parents or other family members are physically present, their influence is pervasive. Families are the most central and enduring influence in children's lives. Parents are also central in pediatric care. The health and well-being of children are inextricably linked to their parents' physical, emotional and social health, social circumstances, and child-rearing practices. The rising incidence of behavior problems among children attests to some families' inability to cope with the increasing stresses they are experiencing and their need for assistance. When a family's distress finds its voice in a child's symptoms, pediatricians are often parents' first source for help. There is enormous diversity among families-diversity in the composition of families, in their ethnic and racial heritage, in their religious and spiritual orientation, in how they communicate, in the time they spend together, in their commitment to individual family members, in their connections to their community, in their experiences, and in their ability to adapt to stress. Within families, individuals are different from one another as well. Pediatricians are especially sensitive to differences among children-in their temperaments and personalities, in their innate and learned abilities, and in how they view themselves and respond to the world around them. It is remarkable and a testament to the effort of parents and to the resilience of children that most families function well and most children succeed in life. Family life in the United States has been subjected to extensive scrutiny and frequent commentary, yet even when those activities have been informed by research, they tend to be influenced by personal experience within families and by individual and

Maternity and family leave policies in rural family practices.

PubMed

Mainguy, S; Crouse, B J

1998-09-01

To help recruit and retain physicians, especially women, rural family practice groups need to establish policies regarding maternity and other family leaves. Also important are policies regarding paternity leave, adoptive leave, and leave to care for elderly parents. We surveyed members of the American Academy of Family Physicians in rural practice in 1995 to assess the prevalence of leave policies, the degree to which physicians are taking family leave, and the characteristics of ideal policies. Currently, both men and women physicians are taking family leaves of absence, which indicates a need for leave policies. Furthermore, a lack of family leave policies may deter women from entering rural practice.

Isolation and expression of a Bacillus cereus gene encoding benzil reductase.

PubMed

Maruyama, R; Nishizawa, M; Itoi, Y; Ito, S; Inoue, M

2001-12-20

Benzil was reduced stereospecifically to (S)-benzoin by Bacillus cereus strain Tim-r01. To isolate the gene responsible for asymmetric reduction, we constructed a library consisting of Escherichia coli clones that harbored plasmids expressing Bacillus cereus genes. The library was screened using the halo formation assay, and one clone showed benzil reduction to (S)-benzoin. Thus, this clone seemed to carry a plasmid encoding a Bacillus cereus benzil reductase. The deduced amino acid sequence had marked homologies to the Bacillus subtilis yueD protein (41% identity), the yeast open reading frame YIR036C protein (31%), and the mammalian sepiapterin reductases (28% to 30%), suggesting that benzil reductase is a novel short-chain de-hydrogenases/ reductase. Copyright 2001 John Wiley & Sons, Inc.

Opportunity NYC--Family Rewards: Qualitative Study of Family Communication

ERIC Educational Resources Information Center

Fraker, Carolyn A.; Greenberg, David

2011-01-01

Aimed at low-income families in six of New York City's highest-poverty communities, the Family Rewards program ties cash rewards to a pre-specified set of activities. This paper presents the qualitative findings from interviews with 77 families. It examines how families incorporated the program into their households, and specifically the…

A perfect fit: connecting family therapy skills to family business needs.

PubMed

Cole, Patricia M; Johnson, Kit

2012-06-01

The purpose of this article is to encourage family therapists to become more interested in family business practice. It does so in three ways: (a) highlighting the number of therapists already involved in family business issues; (b) showing the parallels between family business and family therapy by applying family business research findings to couples therapy; (c) discussing how family therapists already have the practice wisdom to be effective in working with family business clients. Limitations of this practice are also discussed along with suggestions for overcoming them. © 2012 American Association for Marriage and Family Therapy.

Evolutionary analysis of hydrophobin gene family in two wood-degrading basidiomycetes, Phlebia brevispora and Heterobasidion annosum s.l.

PubMed Central

2013-01-01

Background Hydrophobins are small secreted cysteine-rich proteins that play diverse roles during different phases of fungal life cycle. In basidiomycetes, hydrophobin-encoding genes often form large multigene families with up to 40 members. The evolutionary forces driving hydrophobin gene expansion and diversification in basidiomycetes are poorly understood. The functional roles of individual genes within such gene families also remain unclear. The relationship between the hydrophobin gene number, the genome size and the lifestyle of respective fungal species has not yet been thoroughly investigated. Here, we present results of our survey of hydrophobin gene families in two species of wood-degrading basidiomycetes, Phlebia brevispora and Heterobasidion annosum s.l. We have also investigated the regulatory pattern of hydrophobin-encoding genes from H. annosum s.s. during saprotrophic growth on pine wood as well as on culture filtrate from Phlebiopsis gigantea using micro-arrays. These data are supplemented by results of the protein structure modeling for a representative set of hydrophobins. Results We have identified hydrophobin genes from the genomes of two wood-degrading species of basidiomycetes, Heterobasidion irregulare, representing one of the microspecies within the aggregate H. annosum s.l., and Phlebia brevispora. Although a high number of hydrophobin-encoding genes were observed in H. irregulare (16 copies), a remarkable expansion of these genes was recorded in P. brevispora (26 copies). A significant expansion of hydrophobin-encoding genes in other analyzed basidiomycetes was also documented (1–40 copies), whereas contraction through gene loss was observed among the analyzed ascomycetes (1–11 copies). Our phylogenetic analysis confirmed the important role of gene duplication events in the evolution of hydrophobins in basidiomycetes. Increased number of hydrophobin-encoding genes appears to have been linked to the species’ ecological strategy, with

Positive Family Functioning.

ERIC Educational Resources Information Center

Sussman, Marvin B.

The persistence of the nuclear family as the primary social unit in the United States and most all other societies, especially complex ones, is a fact. Values shape the definition of family, especially the "good family," and the "great debate" of this period on family failure, family corruption and the family's near demise originates in…

Reclaiming Family Privilege

ERIC Educational Resources Information Center

Seita, John

2012-01-01

The pull for family is strong, almost primeval, most likely it is evolutionary, and for those lacking the benefit of family or Family Privilege, the loss of family is painful and profoundly sad. Young people who struggle to cope without stable family connections are profoundly aware of their lack of "Family Privilege." In this article, the author…

Family dynamics in families with children with Attention Deficit Hyperactivity Disorder.

PubMed

Chu, Kangkang; Li, Shasha; Chen, Yixin; Wang, Mingchun

2012-10-01

Development of adjunctive family therapy for the treatment of children with Attention Deficit Hyperactivity Disorder (ADHD) in China requires a detailed understanding of the family dynamics of these families. Assess the family dynamics of families with children who have ADHD in Nanjing, China. Forty-six children 10 to 17 years of age treated at the Nanjing Brain Hospital for ADHD and 46 control children of the same age and gender from schools in Nanjing completed the 19-item Questionnaire of Systematic Family Dynamics (QSFD) which assesses four dimensions of family functioning: Family Atmosphere, Individuation, Moral Absolutism, and Personal Responsibility for Psychological Problems. There were no differences between groups in the perceived causes of psychological problems but the ADHD children reported a poorer family atmosphere, less independence from parents, and more ambiguity about 'right' and 'wrong' in the family. After adjustment for the potential confounding effects of parental education and family economic status, the findings of poorer family atmosphere and less individuation in the ADHD children remained statistically significant. The internal consistency of the four dimensions of the QSFD as completed by the children were poor (alpha=0.44-0.53). This preliminary study on the family dynamics of families with children that have ADHD finds that the ADHD children report a poor family atmosphere and little independence from parents. Further work is needed to validate the methods for assessing family dynamics in Chinese families, particularly when using children as informants, but this method provides valuable information that could be used as the focus of adjunctive family therapy to augment the traditional pharmacological and behavioral approaches to the treatment of ADHD.

Family dynamics in families with children with Attention Deficit Hyperactivity Disorder

PubMed Central

Chu, Kangkang; Li, Shasha; Chen, Yixin; Wang, Mingchun

2012-01-01

Background Development of adjunctive family therapy for the treatment of children with Attention Deficit Hyperactivity Disorder (ADHD) in China requires a detailed understanding of the family dynamics of these families. Aim Assess the family dynamics of families with children who have ADHD in Nanjing, China. Methods Forty-six children 10 to 17 years of age treated at the Nanjing Brain Hospital for ADHD and 46 control children of the same age and gender from schools in Nanjing completed the 19-item Questionnaire of Systematic Family Dynamics (QSFD) which assesses four dimensions of family functioning: Family Atmosphere, Individuation, Moral Absolutism, and Personal Responsibility for Psychological Problems. Results There were no differences between groups in the perceived causes of psychological problems but the ADHD children reported a poorer family atmosphere, less independence from parents, and more ambiguity about ‘right’ and ‘wrong’ in the family. After adjustment for the potential confounding effects of parental education and family economic status, the findings of poorer family atmosphere and less individuation in the ADHD children remained statistically significant. The internal consistency of the four dimensions of the QSFD as completed by the children were poor (alpha=0.44-0.53). Conclusion This preliminary study on the family dynamics of families with children that have ADHD finds that the ADHD children report a poor family atmosphere and little independence from parents. Further work is needed to validate the methods for assessing family dynamics in Chinese families, particularly when using children as informants, but this method provides valuable information that could be used as the focus of adjunctive family therapy to augment the traditional pharmacological and behavioral approaches to the treatment of ADHD. PMID:25328351

Family Health and Family Planning.

ERIC Educational Resources Information Center

World Health Organization, Copenhagen (Denmark). Regional Office for Europe.

This document is made up of a selection of some of the papers distributed to participants in courses on "Family Health and Family Planning" which have been organized each year since 1973 by the International Children's Center and the World Health Organization Regional Office for Europe. Six courses, held between 1973 and 1978, brought together a…

Exploring families' experiences of health: contributions to a model of family health.

PubMed

Smith, Sarah L; DeGrace, Beth; Ciro, Carrie; Bax, Ami; Hambrick, Andrea; James, Jennifer; Evans, Alexandra

2017-12-01

Child health and developmental outcomes are influenced by the health of the family and the context created. Research suggests symptoms of poor family health (e.g. suboptimal family interactions, parenting stress) yet there is limited understanding of the factors which contribute to robust family health which may unveil opportunities for targeted intervention and family health promotion. The present study examined families' experiences of family health and factors contributing to family health. We performed a qualitative study using constructivist grounded theory methods to guide our understanding of family health for families with typically developing children aged 5-18. Interviews were conducted in family homes and all members were invited to participate. Data from interviews were transcribed, coded, thematically analyzed, and verified with select families. Ten families, including 10 mothers, 8 fathers, and 15 children participated in the study. Participants described family health as a process of balance, living purposefully, and sharing experiences together in alignment with family identity. Mediating family health were processes of awareness and reflection, and adapting, adjusting, and changing in response to family life including external stress factors. Results highlight the possibility for healthcare practitioners to facilitate families' self-reflection and awareness about their health in order to mediate family health development.

Family Spirituality and Family Health Among Korean-American Elderly Couples.

PubMed

Kim, Suk-Sun; Kim-Godwin, Yeoun Soo; Koenig, Harold G

2016-04-01

Spirituality has been regarded as an individual and private matter; consequently, research on spirituality as a family phenomenon has been largely neglected. In addition, most published research has been focused on Western cultures. The purpose of this study was to explore the experience of family spirituality and how it influences health among Korean-American elderly couples who are the first generation to reside in the Southeastern USA. A thematic and interpretive data analysis method was used. Thirteen elderly couples (N = 26) participated in in-depth individual interviews in Korean with the primary author. Interviews were audio-taped, transcribed, and then translated by two bilingual researchers with a background in Korean and American culture. Three main themes of family spirituality were identified: (1) family togetherness, (2) family interdependence, and (3) family coping. Also, participants reported that family spirituality strengthened family health by fostering family commitment, improving emotional well-being, developing new healthy behaviors, and providing healing experiences. This finding implies that healthcare providers need to assess family spiritual issues of elderly couples to maximize their strengths for coping with health problems. As our society becomes more culturally diverse, healthcare providers should seek to understand family spirituality from different cultural perspectives to develop a more holistic approach to care.

A Perfect Fit: Connecting Family Therapy Skills to Family Business Needs

ERIC Educational Resources Information Center

Cole, Patricia M.; Johnson, Kit

2012-01-01

The purpose of this article is to encourage family therapists to become more interested in family business practice. It does so in three ways: (a) highlighting the number of therapists already involved in family business issues; (b) showing the parallels between family business and family therapy by applying family business research findings to…

Family History

MedlinePlus

... CDC Cancel Submit Search The CDC Family Health History Note: Javascript is disabled or is not supported ... visit this page: About CDC.gov . Family Health History The Basics Family Health History & Chronic Disease Planning ...

Family climates: family factors specific to disturbed eating and bulimia nervosa.

PubMed

Laliberté, M; Boland, F J; Leichner, P

1999-09-01

More than a decade of research has characterized the families of individuals with bulimia and bulimia anorexia (Anorexia Nervosa, Binge/Purging Type) as less expressive, less cohesive, and experiencing more conflicts than normal control families. This two-part study investigated variables believed more directly related to disturbed eating and bulimia as contributing to a "family climate for eating disorders." In Study 1. a nonclinical sample of 324 women who had just left home for college and a sample of 121 mothers evaluated their families. Principal-components analyses revealed the same factor structure for both students and mothers, with Family Body Satisfaction, Family Social Appearance Orientation, and Family Achievement Emphasis loading together, representing the hypothesized family climate for eating disorders: the remaining variables loaded with the more traditional family process variables (conflict, cohesion, expressiveness), representing a more general family dysfunction. As predicted, the family climate for eating disorders factor score was a more powerful predictor of disturbed eating. Study 2 extended these findings into a clin ical population, examining whether the family climate for eating disorders variables would distinguish individuals with bulimia from both depressed and healthy controls. Groups of eating-disordered patients (n = 40) and depressed (n = 17) and healthy (n = 27) controls completed family measures. The eating-disordered group scored significantly higher on family climate variables than control groups. Family process variables distinguished clinical groups (depressed and eating disordered) from healthy controls, but not from one another. Controlling for depression removed group differences on family process variables, but family climate variables continued to distinguish the eating-disordered group from both control groups. Indications for further research are discussed.

Familial risks of glomerulonephritis - a nationwide family study in Sweden.

PubMed

Akrawi, Delshad Saleh; Li, Xinjun; Sundquist, Jan; Fjellstedt, Erik; Sundquist, Kristina; Zöller, Bengt

2016-08-01

Familial risks of glomerulonephritis (acute, chronic and unspecified glomerulonephritis) have not been studied. This study aims to determine the familial risks of glomerulonephritis. Individuals born from1932 onwards diagnosed with glomerulonephritis (acute [n = 7011], chronic [n = 10,242] and unspecified glomerulonephritis [n = 5762]) were included. The familial risk (Standardized incidence ratio = SIR) was calculated for individuals whose parents/full-siblings were diagnosed with glomerulonephritis compared to those whose parents/full-siblings were not. The procedure was repeated for spouses. Familial concordant risk (same disease in proband and exposed relative) and discordant risk (different disease in proband and exposed relative) of glomerulonephritis were determined. Familial concordant risks (parents/full-sibling history) were: SIR = 3.57 (95% confidence interval, 2.77-4.53) for acute glomerulonephritis, SIR = 3.84 (3.37-4.36) for chronic glomerulonephritis and SIR = 3.75 (2.85-4.83) for unspecified glomerulonephritis. High familial risks were observed if two or more relatives were affected; the SIR was 209.83 (150.51-284.87) in individuals with at least one affected parent as well as one full-sibling. The spouse risk was only moderately increased (SIR = 1.53, 1.33-1.75). Family history of glomerulonephritis is a strong predictor for glomerulonephritis, and is a potentially useful tool in clinical risk assessment. Our data emphasize the contribution of familial factors to the glomerulonephritis burden in the community. Key Messages The familial risks (full-sibling/parent history) of glomerulonephritis (acute, chronic and unspecified glomerulonephritis) have not been determined previously. The familial risks of glomerulonephritis were increased among individuals with family history of acute, chronic or unspecified glomerulonephritis. The familial risks of glomerulonephritis were slightly increased among spouses indicating a

Strengthening Family Resilience. The Guilford Family Therapy Series.

ERIC Educational Resources Information Center

Walsh, Froma

Offering an alternative to clinician's prevalent focus on family dysfunction, this book draws upon extensive clinical and research experience to present a framework for therapeutic and preventive work with couples and families who are distressed, vulnerable, or at risk. The book identifies key interactional processes that enable family members to…

Family ties and economic stability concerns of migrant labour families in Jordan.

PubMed

Kamiar, M S; Ismail, H F

1991-12-01

74 labor migrant families from various socioeconomic classes in Amman, Jordan were interviewed to examine changes in relationships among family members, extended family, and neighbors and their concerns about economic stability in the host country, Jordan, and the world market. Another purpose was to determine how current migration policies of the Arab oil-producing countries which prohibit labor migrants from bringing their families to the host country affect labor migration among families. The families consisted of either those who did or did not accompany the labor migrant. Overall labor migration affected unaccompanied families more than accompanied families, e.g., only 19% of the unaccompanied families reported increased family unity compared with 56% of accompanied families. Problems within unaccompanied families increased in 43% of the cases but in only 6% of the accompanied families. Many of these problems resulted in children dropping out of school which reflected the control fathers had within the family, separation, or divorce. Yet labor migration reduced family ties with extended family members and neighbors almost equally for both groups. Accompanied families were not as concerned about economic stability in Jordan as unaccompanied families (38% vs. 50%). Perhaps these families tended not to invest remittances received from the labor migrants working in Arab oil-producing countries in Jordan. Both groups were quite concerned about the economic stability in the host countries (66% and 72%, respectively) and the world market (59% and 62%, respectively), however. Since family unity suffers when families do not accompany labor migrants, it is suggested that oil-producing nations that depend on foreign labor should guarantee family unity as a human right.

Family Treatment for Bipolar Disorder: Family Impairment by Treatment Interactions

PubMed Central

Miller, Ivan W.; Keitner, Gabor I.; Ryan, Christine E.; Uebelacker, Lisa A.; Johnson, Sheri L.; Solomon, David A.

2010-01-01

Objective There is a clear need for psychosocial treatments to supplement pharmacotherapy for bipolar disorder. In this study, the efficacy of 2 forms of adjunctive family intervention were compared to pharmacotherapy alone. In addition to evaluating overall differences between treatments, a chief goal was to examine whether family impairment levels moderated the effects of family intervention on outcome. Method Ninety-two patients diagnosed with bipolar I disorder (according to DSM-III-R) were randomly assigned to receive (1) pharmacotherapy alone, (2) family therapy + pharmacotherapy, or (3) multi-family psychoeducational group + pharmacotherapy. Treatments and assessments continued for up to 28 months. Primary outcome measures were number of episodes per year and percentage of time symptomatic throughout the entire follow-up period. The study was conducted from September 1992 through March 1999. Results No significant main effects were found for treatment condition. Thus, for the total sample, the addition of a family intervention did not improve outcome. However, there were significant treatment condition by family impairment interactions (p < .05). In patients from families with high levels of impairment, the addition of a family intervention (family therapy or psychoeducational group) resulted in a significantly improved course of illness, particularly the number of depressive episodes (p <.01) and proportion of time spent in a depressive episode (p <.01). These effects were relatively large (Cohen d = 0.7–1.0), with patients receiving either family intervention having roughly half the number of depressive episodes and amount of time spent depressed as those receiving pharmacotherapy alone. In contrast, for patients from low-impairment families, the addition of a family intervention did not improve course of illness. Conclusions Our findings build on previous literature suggesting the importance of treatment matching within the mood disorders and suggest

The context of collecting family health history: examining definitions of family and family communication about health among African American women.

PubMed

Thompson, Tess; Seo, Joann; Griffith, Julia; Baxter, Melanie; James, Aimee; Kaphingst, Kimberly A

2015-04-01

Public health initiatives encourage the public to discuss and record family health history information, which can inform prevention and screening for a variety of conditions. Most research on family health history discussion and collection, however, has predominantly involved White participants and has not considered lay definitions of family or family communication patterns about health. This qualitative study of 32 African American women-16 with a history of cancer-analyzed participants' definitions of family, family communication about health, and collection of family health history information. Family was defined by biological relatedness, social ties, interactions, and proximity. Several participants noted using different definitions of family for different purposes (e.g., biomedical vs. social). Health discussions took place between and within generations and were influenced by structural relationships (e.g., sister) and characteristics of family members (e.g., trustworthiness). Participants described managing tensions between sharing health information and protecting privacy, especially related to generational differences in sharing information, fear of familial conflict or gossip, and denial (sometimes described as refusal to "own" or "claim" a disease). Few participants reported that anyone in their family kept formal family health history records. Results suggest family health history initiatives should address family tensions and communication patterns that affect discussion and collection of family health history information.

Family-initiated dialogue about medications during family-centered rounds.

PubMed

Benjamin, Jessica M; Cox, Elizabeth D; Trapskin, Philip J; Rajamanickam, Victoria P; Jorgenson, Roderick C; Weber, Holly L; Pearson, Rachel E; Carayon, Pascale; Lubcke, Nikki L

2015-01-01

Experts suggest family engagement in care can improve safety for hospitalized children. Family-centered rounds (FCRs) can offer families the opportunity to participate in error recovery related to children's medications. The objective of this study was to describe family-initiated dialogue about medications and health care team responses to this dialogue during FCR to understand the potential for FCR to foster safe medication use. FCR were video-recorded daily for 150 hospitalized children. Coders sorted family-initiated medication dialogue into mutually exclusive categories, reflecting place of administration, therapeutic class, topic, and health care team responses. Health care team responses were coded to reflect intent, actions taken by the team, and appropriateness of any changes. Eighty-three (55%) of the 150 families raised 318 medication topics during 347 FCR. Most family-initiated dialogue focused on inpatient medications (65%), with home medications comprising 35%. Anti-infectives (31%), analgesics (14%), and corticosteroids (11%) were the most commonly discussed medications. The most common medication topics raised by families were scheduling (24%) and adverse drug reactions (11%). Although most health care team responses were provision of information (74%), appropriate changes to the child's medications occurred in response to 8% of family-initiated dialogue, with most changes preventing or addressing adverse drug reactions or scheduling issues. Most families initiated dialogue regarding medications during FCRs, including both inpatient and home medications. They raised topics that altered treatment and were important for medication safety, adherence, and satisfaction. Study findings suggest specific medication topics that health care teams can anticipate addressing during FCR. Copyright © 2015 by the American Academy of Pediatrics.

Family History

MedlinePlus

Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

Software-assisted stacking of gene modules using GoldenBraid 2.0 DNA-assembly framework.

PubMed

Vazquez-Vilar, Marta; Sarrion-Perdigones, Alejandro; Ziarsolo, Peio; Blanca, Jose; Granell, Antonio; Orzaez, Diego

2015-01-01

GoldenBraid (GB) is a modular DNA assembly technology for plant multigene engineering based on type IIS restriction enzymes. GB speeds up the assembly of transcriptional units from standard genetic parts and facilitates the stacking of several genes within the same T-DNA in few days. GBcloning is software-assisted with a set of online tools. The GBDomesticator tool assists in the adaptation of DNA parts to the GBstandard. The combination of GB-adapted parts to build new transcriptional units is assisted by the GB TU Assembler tool. Finally, the assembly of multigene modules is simulated by the GB Binary Assembler. All the software tools are available at www.gbcloning.org . Here, we describe in detail the assembly methodology to create a multigene construct with three transcriptional units for polyphenol metabolic engineering in plants.

Bequeathing Family Continuity.

ERIC Educational Resources Information Center

Spanier, Graham B.

1989-01-01

Notes that many children who experience abuse, family disruption, or poverty reach adulthood with a strong commitment to family life. Questions whether changes in American families are indicators of pathology, deterioration, and instability; and asks how dysfunctional families transmit commitment to the concept of family to succeeding generations.…

The Relationship between Dysfunctional Family Environments and Family Member Food Intake.

ERIC Educational Resources Information Center

Kintner, Martha; And Others

1981-01-01

Explores relationships between family environment and family food intake. Findings indicate a significant negative relationship between the family's dysfunctional environment (indicated by high conflict, control, and organization) and family dietary intake. A significant positive relationship was found between the family's cohesive and independent…

Hospitalized elders and family caregivers: a typology of family worry.

PubMed

Li, Hong

2005-01-01

This qualitative study explored the kinds of worry that family caregivers experience when their older relatives are hospitalized. Little is known about what kinds of worries family caregivers may have in association with the hospitalizations of older relatives. An understanding of the different patterns of family worry may help health care teams intervene more effectively to meet family caregiver's needs by reducing their anxiety. A qualitative descriptive design with Loftland and Loftland (1984) approach for the study of a phenomenon occurring in a social setting was used. A purposeful sample of 10 participants was obtained that included six family caregivers and four nurses. Participants were recruited from two hospitals in the northwest US. Intensive interviews and participant observations were used for data collection, and Loftland and Loftland's (1984) qualitative approach was used for data analysis. Family worry was defined as family caregivers' felt difficulty in fulfilling their roles because of worry. Four categories of family worry were identified as a result of this study: (i) worry about the patient's condition; (ii) worry about the patient's care received from the health care team; (iii) worry about future care for the patient provided by the family caregiver; and (iv) worry about finances. The findings of this pilot study provide nurses with the initial knowledge of the typology of family worry associated with elderly relatives' hospitalizations. The findings of this study may sensitize the nurses to more precisely evaluate family caregivers' worry about their hospitalized elders and provide more effective nursing interventions to improve outcomes of both patients and their family caregivers.

Adoptive Family Adjustment and Its Relation to Perceived Family Environment.

ERIC Educational Resources Information Center

Martin, Betty; Kelly, Mary Margaret; Towner-Thyrum, Elizabeth

1999-01-01

Interviewed adopted college students regarding perceptions of adoptive family life. Found that overall satisfaction with adoptive status and family life was the strongest predictor of perceived general family environment. Perception of adoptive parents' communication styles predicted different aspects of family environment. Acknowledgment of life…

75 FR 55588 - Family-to-Family Health Information Center Program

Federal Register 2010, 2011, 2012, 2013, 2014

2010-09-13

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Health Resources and Services Administration Family-to-Family Health Information Center Program AGENCY: Health Resources and Services Administration, HHS... Florida Family-to-Family Health Information Center (F2F HIC) grant (H84MC00006) from the Florida Institute...

Understanding Family Caregiver Communication to Provide Family-Centered Cancer Care.

PubMed

Wittenberg, Elaine; Buller, Haley; Ferrell, Betty; Koczywas, Marianna; Borneman, Tami

2017-12-01

To describe a family caregiver communication typology and demonstrate identifiable communication challenges among four caregiver types: Manager, Carrier, Partner, and Lone. Case studies based on interviews with oncology family caregivers. Each caregiver type demonstrates unique communication challenges that can be identified. Recognition of a specific caregiver type will help nurses to adapt their own communication to provide tailored support. Family-centered cancer care requires attention to the communication challenges faced by family caregivers. Understanding the challenges among four family caregiver communication types will enable nurses to better address caregiver burden and family conflict. Copyright © 2017 Elsevier Inc. All rights reserved.

The growing world of expansins

NASA Technical Reports Server (NTRS)

Cosgrove, Daniel J.; Li, Lian Chao; Cho, Hyung-Taeg; Hoffmann-Benning, Susanne; Moore, Richard C.; Blecker, Douglas

2002-01-01

Expansins are cell wall proteins that induce pH-dependent wall extension and stress relaxation in a characteristic and unique manner. Two families of expansins are known, named alpha- and beta-expansins, and they comprise large multigene families whose members show diverse organ-, tissue- and cell-specific expression patterns. Other genes that bear distant sequence similarity to expansins are also represented in the sequence databases, but their biological and biochemical functions have not yet been uncovered. Expansin appears to weaken glucan-glucan binding, but its detailed mechanism of action is not well established. The biological roles of expansins are diverse, but can be related to the action of expansins to loosen cell walls, for example during cell enlargement, fruit softening, pollen tube and root hair growth, and abscission. Expansin-like proteins have also been identified in bacteria and fungi, where they may aid microbial invasion of the plant body.

Family Structure, Family Stability, and Outcomes of Five-Year-Old Children

PubMed Central

Brooks-Gunn, Jeanne; Waldfogel, Jane

2013-01-01

This study exploits data from the Fragile Families and Child Wellbeing Study, a birth cohort study of a diverse sample of children from twenty U.S. cities (N = 3,676), to examine how cognitive, behavioural, and health outcomes of five-year old children differ according to their family structure and family stability. We define three models: one that measures family structure at birth only, a second that measures current family structure at year five conditional on family structure at birth, and a third that measures changes in family structure from birth to age five. We find that while family structure has persistent links to child outcomes, the effects are significantly altered by stability of the family structure over time. These findings remain robust even after addressing selection. PMID:24163735

The impact of changes in China's family patterns on family pension functions.

PubMed

Su, Zhongxin; Hu, Z; Peng, Xizhe

2017-07-01

Using data from the Chinese census and the China Statistical Yearbook, this paper will analyze the historical changes and future trends of family households in China over the past 30 years and explore the changes of family pension functions and corresponding policies. Our analysis yielded 3 notable results. First, in family size miniaturization and structural simplification, 1- and 2-generation family households are the main body of contemporary China. Second, for family aging and changes in living patterns, which primarily manifest as an increase in; the proportion of elderly households and in middle-aged and elderly people in the family, the elderly model and the "multigenerational model" have become the 2 major residence models for the elderly in China. Third, nontraditional families have emerged in large numbers, such as the exclusively elderly family, empty nest family, grandparents family, Double Income, No Kids (DINK) family, older single family, and single-parent family. We argue that in the process of simplification, China's family structure is increasingly showing characteristics of networking. The change in family patterns entails the restoration of traditional functions and taking on new functions of the family by issuing relevant social policies. Only when these social policies are based on family functions and demands can they provide effective help to social members, particularly regarding the family's responsibilities to parent children and support the elderly. Copyright © 2017 John Wiley & Sons, Ltd.

Using Information and Communication Technologies for Family Communication and Its Association With Family Well-Being in Hong Kong: FAMILY Project.

PubMed

Wang, Man Ping; Chu, Joanna T W; Viswanath, Kasisomayajula; Wan, Alice; Lam, Tai Hing; Chan, Sophia S

2015-08-24

Family communication is central to the family and its functioning. It is a mutual process in which family members create, share, and regulate meaning. Advancement and proliferation of information and communication technologies (ICTs) continues to change methods of family communication. However, little is known about the use of different methods for family communication and the influence on family well-being. We investigated the sociodemographic factors associated with different methods of family communication and how they are associated with perceived family harmony, happiness, and health (3Hs) among Chinese adults in Hong Kong. Data came from a territory-wide probability-based telephone survey using the Family and Health Information Trend survey (FHInTs). Frequency of family communication using different methods (ie, face-to-face, phone, instant messaging [IM], social media sites, and email) were recoded and classified as frequent (always/sometimes) and nonfrequent (seldom/never) use. Family well-being was measured using 3 questions of perceived family harmony, happiness, and health with higher scores indicating better family well-being. Adjusted odds ratios for family communication methods by sociodemographic characteristics and adjusted beta coefficients for family well-being by communication methods were calculated. A total of 1502 adults were surveyed. Face-to-face (94.85%, 1408/1484) was the most frequent means of communication followed by phone (78.08%, 796/1484), IM (53.64%, 796/1484), social media sites (17.60%, 261/1484), and email (13.39%, 198/1484). Younger age was associated with the use of phone, IM, and social media sites for family communication. Higher educational attainment was associated with more frequent use of all modes of communication, whereas higher family income was only significantly associated with more frequent use of IM and email (P=.001). Face-to-face (beta 0.65, 95% CI 0.33-0.97) and phone use (beta 0.20, 95% CI 0.02-0.38) for family

Family and Family Change in Ireland: An Overview

ERIC Educational Resources Information Center

Canavan, John

2012-01-01

In Ireland, historically and in the current era, family has been a central concern for society and the State. This article provides a descriptive overview of family life in Ireland and of major family-related changes over the past 40 years. It presents a general framework of analysis within which these changes can be understood, considers the…

Parental Stress, Family-Professional Partnerships, and Family Quality of Life: Families of Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Hsiao, Yun-Ju

2013-01-01

The purpose of this study was to investigate the relationship among the quality of life of families that have at least one child with autism spectrum disorder, parental stress level, and partnerships between the family and professionals. Also, parent perceptions of parental stress, family quality of life, and family-professional partnerships were…

Family Reading Night

ERIC Educational Resources Information Center

Hutchins, Darcy; Greenfeld, Marsha; Epstein, Joyce

2007-01-01

This book offers clear and practical guidelines to help engage families in student success. It shows families how to conduct a successful Family Reading Night at their school. Family Night themes include Scary Stories, Books We Love, Reading Olympics, Dr. Seuss, and other themes. Family reading nights invite parents to come to school with their…

Families and Education: An Educator's Resource for Family Involvement. (Revised Edition).

ERIC Educational Resources Information Center

App, Marie, Comp.; Grinde, Jane, Comp.

This handbook for educators offers guidance on ways to understand families, family-teacher communication, the process of reinforcing classwork at home, caring for the whole child, and selected resources. Chapter 1 discusses the climate for family involvement, different perceptions of teachers and families, what families want to know, today's…

Family Physician Support for a Family With a Mentally Ill Member.

PubMed

McBride, J LeBron

2016-09-01

Mentally ill family members can have a formidable impact on the families in which they reside. Family physicians can intervene in powerful ways when they are sensitive to those who are mentally ill and their families and can provide much needed compassionate support. © 2016 Annals of Family Medicine, Inc.

Clarifying Work-Family Intervention Processes: The Roles of Work-Family Conflict and Family Supportive Supervisor Behaviors

PubMed Central

Hammer, Leslie B.; Kossek, Ellen E.; Anger, W. Kent; Bodner, Todd; Zimmerman, Kristi L.

2010-01-01

Drawing on a conceptual model integrating research on training, work-family interventions, and social support, we conducted a quasi-experimental field study to assess the impact of a supervisory training and self-monitoring intervention designed to increase supervisors' use of family supportive supervisor behaviors. Pre- and post-intervention surveys were completed, nine months apart, by 239 employees at six intervention (N = 117) and six control (N = 122) grocery store sites. Thirty-nine supervisors in the six intervention sites received the training consisting of one hour of self-paced computer-based training, one hour of face-to-face group training, followed by instructions for behavioral self-monitoring (recording the frequency of supportive behaviors) to support on-the-job transfer. Results demonstrated a disordinal interaction for the effect of training and family-to-work conflict on employee job satisfaction, turnover intentions and physical health. In particular, for these outcomes, positive training effects were observed for employees with high family-to-work conflict, while negative training effects were observed for employees with low family-to-work conflict. These moderation effects were mediated by the interactive effect of training and family-to-work conflict on employee perceptions of family-supportive supervisor behaviors. Implications of our findings for future work-family intervention development and evaluation are discussed. PMID:20853943

Education, Parenting and Family: The Social Geographies of Family Learning

ERIC Educational Resources Information Center

Wainwright, Emma; Marandet, Elodie

2017-01-01

This paper explores the relationship between education, parenting and family through the prism and particularities of family learning. Family learning is an example of an educational initiative, primarily aimed at parents and linked to wider policy concerns, which can be explored through a mapping of its social geographies; family learning is…

We Are Family: Using Diverse Family Structure Literature with Children

ERIC Educational Resources Information Center

Gilmore, Deanna Peterschick; Bell, Kari

2006-01-01

The structure of the American family has changed over the years. Although the traditional father, mother, child structure still dominates, other family patterns are emerging. In this article the authors present: (1) current statistics relating to diverse family structures; (2) reasons for using diverse family structure literature with children;…

Work Role Characteristics, Family Structure Demands, and Work/Family Conflict.

ERIC Educational Resources Information Center

Voydanoff, Patricia

1988-01-01

Examined relationships between work role characteristics, family structure demands, and work/family conflict, using data from 757 married men and 270 married women. Found that amount and scheduling of work time, job demands, and presence of children in home were related to work/family conflict. Work role characteristics and family structure…

Identification of a member of the catalase multigene family on wheat chromosome 7A associated with flour b* colour and biological significance of allelic variation.

PubMed

Li, Dora A; Walker, Esther; Francki, Michael G

2015-12-01

Carotenoids (especially lutein) are known to be the pigment source for flour b* colour in bread wheat. Flour b* colour variation is controlled by a quantitative trait locus (QTL) on wheat chromosome 7AL and one gene from the carotenoid pathway, phytoene synthase, was functionally associated with the QTL on 7AL in some, but not all, wheat genotypes. A SNP marker within a sequence similar to catalase (Cat3-A1snp) derived from full-length (FL) cDNA (AK332460), however, was consistently associated with the QTL on 7AL and implicated in regulating hydrogen peroxide (H2O2) to control carotenoid accumulation affecting flour b* colour. The number of catalase genes on chromosome 7AL was investigated in this study to identify which gene may be implicated in flour b* variation and two were identified through interrogation of the draft wheat genome survey sequence consisting of five exons and a further two members having eight exons identified through comparative analysis with the single catalase gene on rice chromosome 6, PCR amplification and sequencing. It was evident that the catalase genes on chromosome 7A had duplicated and diverged during evolution relative to its counterpart on rice chromosome 6. The detection of transcripts in seeds, the co-location with Cat3-A1snp marker and maximised alignment of FL-cDNA (AK332460) with cognate genomic sequence indicated that TaCat3-A1 was the member of the catalase gene family associated with flour b* colour variation. Re-sequencing identified three alleles from three wheat varieties, TaCat3-A1a, TaCat3-A1b and TaCat3-A1c, and their predicted protein identified differences in peroxisomal targeting signal tri-peptide domain in the carboxyl terminal end providing new insights into their potential role in regulating cellular H2O2 that contribute to flour b* colour variation.

The Influence of Family Climate and Family Process on Child Development.

ERIC Educational Resources Information Center

Bell, Linda G.; Bell, David C.

This study investigates the relationship between the degree of individuation in families and the personality development of adolescent family members. A subsample of 30 white, middle-class families were chosen for analysis from a larger sample of 99 families. Fifteen families from the subsample had adolescent girls who scored high, and fifteen had…

Family losses following truncation selection in populations of half-sib families

Treesearch

J. H. Roberds; G. Namkoong; H. Kang

1980-01-01

Family losses during truncation selection may be sizable in populations of half-sib families. Substantial losses may occur even in populations containing little or no variation among families. Heavier losses will occur, however, under conditions of high heritability where there is considerable family variation. Standard deviations and therefore variances of family loss...

Assignment of the {beta}-arrestin 1 gene (ARRB1) to human chromosome 11q13

DOE Office of Scientific and Technical Information (OSTI.GOV)

Calabrese, G.; Morizio, E.; Palka, G.

1994-11-01

Two types of proteins play a major role in determining homologous desensitization of G-coupled receptors: {beta}-adrenergic receptor kinase ({beta}ARK), which phosphorylates the agonist-occupied receptor, and its functional cofactor, {beta}-arrestin. {beta}ARK is a member of a multigene family, consisting of six known subtypes, which have also been named G-protein-coupled receptor kinases (GRK 1 to 6) due to the apparently unique functional association of such kinases with this receptor family. The gene for {beta}ARK1 has been localized to human chromosome 11q13. The four members of the arrestin/{beta}-arrestin gene family identified so far are arrestin, X-arrestin, {beta}-arrestin 1, and {beta}-arrestin 2. Here themore » authors report the chromosome mapping of the human gene for {beta}-arrestin 1 (ARRB1) to chromosome 11q13 by fluorescence in situ hybridization (FISH). Two-color FISH confirmed that the two genes coding for the functionally related proteins {beta}ARK1 and {beta}arrestin 1 both map to 11q13. 16 refs., 1 fig., 1 tab.« less

Isolation of Notl sites from chromosome 22q11

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ten Hoeve, J.; Groffen, J.; Heisterkamp, N.

1993-12-01

Chromosome 22q11 contains a large number of interesting loci, including genes associated with cancer and developmental defects. The region is also the site of the lambda immunoglobulin variable and constants regions and the BCR, [gamma]-glutamyl transpeptidase, and GGT-like activity multigene families. Because of the complexities associated with mapping highly related gene families, the authors have examined the utility of mapping large areas of DNA using a defined approach. A total of 21 complete NotI sites from band q11 were cloned and ordered into six noncontiguous clusters of sites using a combination of somatic cell hybrid panels, NotI jumping and linkingmore » libraries, and fluorescence in situ hybridization. The largest cluster spanned an estimated 2 Mb of NotI fragments, the smallest 115 kb. Approximately 3.5 Mb of band q11 could be examined for rearrangements in NotI restriction enzyme fragments. A number of conserved sequences, two genes, and a minimum of two families of related sequences were identified adjacent to NotI sites. 51 refs., 5 figs., 4 tabs.« less

Using Information and Communication Technologies for Family Communication and Its Association With Family Well-Being in Hong Kong: FAMILY Project

PubMed Central

Wang, Man Ping; Chu, Joanna TW; Viswanath, Kasisomayajula; Wan, Alice; Chan, Sophia S

2015-01-01

Background Family communication is central to the family and its functioning. It is a mutual process in which family members create, share, and regulate meaning. Advancement and proliferation of information and communication technologies (ICTs) continues to change methods of family communication. However, little is known about the use of different methods for family communication and the influence on family well-being. Objective We investigated the sociodemographic factors associated with different methods of family communication and how they are associated with perceived family harmony, happiness, and health (3Hs) among Chinese adults in Hong Kong. Methods Data came from a territory-wide probability-based telephone survey using the Family and Health Information Trend survey (FHInTs). Frequency of family communication using different methods (ie, face-to-face, phone, instant messaging [IM], social media sites, and email) were recoded and classified as frequent (always/sometimes) and nonfrequent (seldom/never) use. Family well-being was measured using 3 questions of perceived family harmony, happiness, and health with higher scores indicating better family well-being. Adjusted odds ratios for family communication methods by sociodemographic characteristics and adjusted beta coefficients for family well-being by communication methods were calculated. Results A total of 1502 adults were surveyed. Face-to-face (94.85%, 1408/1484) was the most frequent means of communication followed by phone (78.08%, 796/1484), IM (53.64%, 796/1484), social media sites (17.60%, 261/1484), and email (13.39%, 198/1484). Younger age was associated with the use of phone, IM, and social media sites for family communication. Higher educational attainment was associated with more frequent use of all modes of communication, whereas higher family income was only significantly associated with more frequent use of IM and email (P=.001). Face-to-face (beta 0.65, 95% CI 0.33-0.97) and phone use

Molding the business end of neurotoxins by diversifying evolution.

PubMed

Kozminsky-Atias, Adi; Zilberberg, Noam

2012-02-01

A diverse range of organisms utilize neurotoxins that target specific ion channels and modulate their activity. Typically, toxins are clustered into several multigene families, providing an organism with the upper hand in the never-ending predator-prey arms race. Several gene families, including those encoding certain neurotoxins, have been subject to diversifying selection forces, resulting in rapid gene evolution. Here we sought a spatial pattern in the distribution of both diversifying and purifying selection forces common to neurotoxin gene families. Utilizing the mechanistic empirical combination model, we analyzed various toxin families from different phyla affecting various receptors and relying on diverse modes of action. Through this approach, we were able to detect clear correlations between the pharmacological surface of a toxin and rapidly evolving domains, rich in positively selected residues. On the other hand, patches of negatively selected residues were restricted to the nontoxic face of the molecule and most likely help in stabilizing the tertiary structure of the toxin. We thus propose a mutual evolutionary strategy of venomous animals in which adaptive molecular evolution is directed toward the toxin active surface. Furthermore, we propose that the binding domains of unstudied toxins could be readily predicted using evolutionary considerations.

Parental stress, family quality of life, and family-teacher partnerships: Families of children with autism spectrum disorder.

PubMed

Hsiao, Yun-Ju; Higgins, Kyle; Pierce, Tom; Whitby, Peggy J Schaefer; Tandy, Richard D

2017-11-01

Reducing parental stress and improving family quality of Life (FQOL) are continuing concerns for families of children with autism spectrum disorder (ASD). Family-teacher partnerships have been identified as a positive factor to help parents reduce their stress and improve their FQOL. However, the interrelations among parental stress, FQOL, and family-teacher partnerships need to be further examined so as to identify the possible paths to help parents reduce their stress and improve their FQOL. The purpose of this study was to examine the interrelations among these three variables. A total of 236 parents of school children with ASD completed questionnaires, which included three measures: (a) the Beach Center Family Quality of Life Scale, (b) the Parental Stress Scale, and (c) the Beach Center Family-Professional Partnerships Scale. The structural equation modeling was used to analyze the interrelations among these three variables. Perceived parental stress had a direct effect on parental satisfaction concerning FQOL and vice versa. Perceived family-teacher partnerships had a direct effect on FQOL, but did not have a direct effect on parental stress. However, family-teacher partnerships had an indirect effect on parental stress through FQOL. Reducing parental stress could improve FQOL for families of children with ASD and vice versa. Strong family-teacher partnerships could help parents of children with ASD improve their FQOL and indirectly reduce their stress. Copyright © 2017 Elsevier Ltd. All rights reserved.

Family-nurse co-construction of meaning: a central phenomenon of family caring.

PubMed

Meiers, Sonja J; Tomlinson, Patricia S

2003-06-01

The purpose of the study was to understand and interpret caring in the family health experience by exploring the interactional phenomenon of family-nurse co-construction of meaning in the paediatric intensive care unit (PICU). A hermeneutic phenomenological method within a framework of existentialism and symbolic interactionism was used in the investigation. The convenience sample for this study was four family-nurse dyads, that is four families of critically ill children (all with positive outcomes) and the four nurses assigned to their care who were participating in a larger study. Data were derived from semi-structured interviews regarding significant interactions throughout the child's illness and subsequent significant interactions of families with other nurses and nurses with other families. Trustworthiness of the study was addressed through the criteria of credibility, dependability, transferability and confirmability. Co-construction of meaning in the family health experience was found to have two dimensions: interdependent and independent. Both families and nurses described being like family as an essential component of the interdependent experience. Independent dimensions for families were journeying through troubled waters of learning the meaning of the illness event and sensing family comfort through the nurse's care. Independent dimensions described by nurses were journeying through troubled waters of learning to care for families and living with another's fear. The family-nurse interaction, the relational connection and the evolution of meanings that families and nurses construct, was affirmed as the major vehicle in the co-construction experience. Family caring is influenced by the existential meaning constructing, process-oriented, interactional nature of the family health experience. Caring in the family health experience is enhanced through actions the nurse performs on behalf of, and with, the family while understanding the family's unique

Family functioning in lesbian families created by donor insemination.

PubMed

Vanfraussen, Katrien; Ponjaert-Kristoffersen, Ingrid; Brewaeys, Anne

2003-01-01

The quantitative and qualitative data of this study on family functioning in lesbian donor insemination families reveal that according to both parents and children, the quality of children's relationship with the social mother is comparable to that with the biological mother. Unlike fathers in heterosexual families, the lesbian social mother is as much involved in child activities as is the biological mother. Furthermore, the lesbian social mother has as much authority as does the father in heterosexual families.

Family Communication Standards: What Counts as Excellent Family Communication and How Are Such Standards Associated with Family Satisfaction?

ERIC Educational Resources Information Center

Caughlin, John P.

2003-01-01

Investigates the standards by which people judge communication in families. Presents three investigations that examine communication standards in family relationships. Suggests that both distressful ideals and unmet ideals are associated with family satisfaction. Notes that the results were consistent with the notion that family communication…

Beyond family satisfaction: Family-perceived involvement in residential care.

PubMed

Irving, Justine

2015-09-01

To explore perceived family involvement and its relationship with satisfaction and facility impressions. A questionnaire was posted to residents' next of kin from four South Australian residential aged care facilities. One hundred and fifty next of kin participated in the survey. Family-perceived involvement was significantly and positively correlated with satisfaction and facility impressions. The findings of this study add to the limited body of research into family involvement in long-term residential care. Feedback from the family regarding particular aspects of involvement may also improve the experience of long-term care for both family and resident, and assist with the identification of specific issues towards which organisations may target their quality improvement efforts. © 2014 ACOTA.

Familial colorectal cancer.

PubMed

Lung, M S; Trainer, A H; Campbell, I; Lipton, L

2015-05-01

Identifying individuals with a genetic predisposition to developing familial colorectal cancer (CRC) is crucial to the management of the affected individual and their family. In order to do so, the physician requires an understanding of the different gene mutations and clinical manifestations of familial CRC. This review summarises the genetics, clinical manifestations and management of the known familial CRC syndromes, specifically Lynch syndrome, familial adenomatous polyposis, MUTYH-associated neoplasia, juvenile polyposis syndrome and Peutz-Jeghers syndrome. An individual suspected of having a familial CRC with an underlying genetic predisposition should be referred to a familial cancer centre to enable pre-test counselling and appropriate follow up. © 2015 Royal Australasian College of Physicians.

Secretome analysis of Trypanosoma cruzi by proteomics studies.

PubMed

Brossas, Jean-Yves; Gulin, Julián Ernesto Nicolás; Bisio, Margarita Maria Catalina; Chapelle, Manuel; Marinach-Patrice, Carine; Bordessoules, Mallaury; Palazon Ruiz, George; Vion, Jeremy; Paris, Luc; Altcheh, Jaime; Mazier, Dominique

2017-01-01

Chagas disease is a debilitating often fatal disease resulting from infection by the protozoan parasite Trypanosoma cruzi. Chagas disease is endemic in 21 countries of the Americas, and it is an emerging disease in other countries as a result of migration. Given the chronic nature of the infection where intracellular parasites persist for years, the diagnosis of T. cruzi by direct detection is difficult, whereas serologic tests though sensitive may yield false-positive results. The development of new rapid test based on the identification of soluble parasitic antigens in serum would be a real innovation in the diagnosis of Chagas disease. To identify new soluble biomarkers that may improve diagnostic tests, we investigated the proteins secreted by T. cruzi using mass spectrometric analyses of conditioned culture media devoid of serum collected during the emergence of trypomastigotes from infected Vero cells. In addition, we compared the secretomes of two T. cruzi strains from DTU Tc VI (VD and CL Brener). Analysis of the secretome collected during the emergence of trypomastigotes from Vero cells led to the identification of 591 T. cruzi proteins. Three hundred sixty three proteins are common to both strains and most belong to different multigenic super families (i.e. TcS, GP63, MASP, and DGF1). Ultimately we have established a list of 94 secreted proteins, common to both DTU Tc VI strains that do not belong to members of multigene families. This study provides the first comparative analysis of the secretomes from two distinct T. cruzi strains of DTU TcVI. This led us to identify a subset of common secreted proteins that could potentially serve as serum markers for T. cruzi infection. Their potential could now be evaluated, with specific antibodies using sera collected from patients and residents from endemic regions.

Phylogeny and chromosomal diversification in the Dichroplus elongatus species group (Orthoptera, Melanoplinae).

PubMed

Castillo, Elio R D; Taffarel, Alberto; Maronna, Maximiliano M; Cigliano, María Marta; Palacios-Gimenez, Octavio M; Cabral-de-Mello, Diogo C; Martí, Dardo A

2017-01-01

In an attempt to track the chromosomal differentiation in the Dichroplus elongatus species group, we analyzed the karyotypes of four species with classical cytogenetic and mapping several multigene families through fluorescent in situ hybridization (FISH). We improved the taxon sampling of the D. elongatus species group adding new molecular data to infer the phylogeny of the genus and reconstruct the karyotype evolution. Our molecular analyses recovered a fully resolved tree with no evidence for the monophyly of Dichroplus. However, we recovered several stable clades within the genus, including the D. elongatus species group, under the different strategies of tree analyses (Maximum Parsimony and Maximum Likelihood). The chromosomal data revealed minor variation in the D. elongatus species group's karyotypes caused by chromosome rearrangements compared to the phylogenetically related D. maculipennis species group. The karyotypes of D. intermedius and D. exilis described herein showed the standard characteristics found in most Dichroplini, 2n = 23/24, X0♂ XX♀, Fundamental number (FN) = 23/24. However, we noticed two established pericentric inversions in D. intermedius karyotype, raising the FN to 27♂/28♀. A strong variation in the heterochromatic blocks distribution was evidenced at interespecific level. The multigene families' mapping revealed significant variation, mainly in rDNA clusters. These variations are probably caused by micro chromosomal changes, such as movement of transposable elements (TEs) and ectopic recombination. These observations suggest a high genomic dynamism for these repetitive DNA sequences in related species. The reconstruction of the chromosome character "variation in the FN" posits the FN = 23/24 as the ancestral state, and it is hypothesized that variations due to pericentric inversions has arisen independently three times in the evolutionary history of Dichroplus. One of these independent events occurred in the D. elongatus

Families overcoming under stress: implementing family-centered prevention for military families facing wartime deployments and combat operational stress.

PubMed

Lester, Patricia; Mogil, Catherine; Saltzman, William; Woodward, Kirsten; Nash, William; Leskin, Gregory; Bursch, Brenda; Green, Sara; Pynoos, Robert; Beardslee, William

2011-01-01

The toll of multiple and prolonged deployments on families has become clearer in recent years as military families have seen an increase in childhood anxiety, parental psychological distress, and marital discord. Families overcoming under stress (FOCUS), a family-centered evidence-informed resiliency training program developed at University of California, Los Angeles and Harvard Medical School, is being implemented at military installations through an initiative from Navy Bureau of Medicine and Surgery. The research foundation for FOCUS includes evidence-based preventive interventions that were adapted to meet the specific needs of military families facing combat operational stress associated with wartime deployments. Using a family narrative approach, FOCUS includes a customized approach utilizing core intervention components, including psychoeducation, emotional regulation skills, goal setting and problem solving skills, traumatic stress reminder management techniques, and family communication skills. The purpose of this study is to describe the development and implementation of FOCUS for military families. A case example is also presented.

Parent Perceptions of Family Social Supports in Families With Children With Epilepsy.

PubMed

Decker, Kim A; Miller, Wendy R; Buelow, Janice M

2016-12-01

When a child is diagnosed with epilepsy, not only has the child's life been disrupted but also the family's sense of normalcy. Although there is considerable literature discussing family concerns and social support issues in families with chronically ill children, a major gap lies in the exploration of how the specifics of childhood epilepsy affect parents and family operations. The purpose of this study was to identify psychosocial care needs of parents of children with epilepsy. Utilizing the Family Systems Nursing theory as a framework, this correlation study examined the relationships among social and community support, family needs, family empowerment, and family quality of life in 29 primary caregivers of a child with epilepsy. These families felt highly supported; they had low needs and high perceptions of empowerment. There was a negative association between social supports and the total family needs survey scale and the subscales of financial support, help regarding explaining to others, and professional support. There was no association between family empowerment or quality of life with parental perceptions of social support. In general, as parental perceptions of family needs increased, perceptions of familial social supports decreased. Further research is recommended to investigate varying socioeconomic status effects in families with children with pediatric epilepsy.

Family Matters.

ERIC Educational Resources Information Center

Mainor, Peggy

2001-01-01

Describes a Kellogg Family Collaborative project that involves the University of Montana and four tribal colleges in a family-strengths approach to improving student retention and achievement. States that the project is grounded in social work theory and research that recognize and reinforce family and student resilience through promotion of…

Associations of family meal frequency with family meal habits and meal preparation characteristics among families of youth with type 1 diabetes.

PubMed

Kornides, M L; Nansel, T R; Quick, V; Haynie, D L; Lipsky, L M; Laffel, L M B; Mehta, S N

2014-05-01

While benefits of family mealtimes, such as improved dietary quality and increased family communication, have been well-documented in the general population, less is known about family meal habits that contribute to more frequent family meals in youth with type 1 diabetes. This cross-sectional study surveyed 282 youth ages 8-18 years with type 1 diabetes and their parents on measures regarding diabetes-related and dietary behaviours. T-tests determined significant differences in youth's diet quality, adherence to diabetes management and glycaemic control between those with and without regular family meals (defined as ≥ 5 meals per week). Logistic regression analyses determined unadjusted and adjusted associations of age, socio-demographics, family meal habits, and family meal preparation characteristics with regular family meals. 57% of parents reported having regular family meals. Families with regular family meals had significantly better diet quality as measured by the Healthy Eating Index (P < 0.05) and the NRF9.3 (P < 0.01), and adherence to diabetes management (P < 0.001); the difference in glycaemic control approached statistical significance (P = 0.06). Priority placed on, pleasant atmosphere and greater structure around family meals were each associated with regular family meals (P < 0.05). Meals prepared at home were positively associated with regular family meals, while convenience and fast foods were negatively associated (P < 0.05). Families in which at least one parent worked part-time or stayed at home were significantly more likely to have regular family meals than families in which both parents worked full-time (P < 0.05). In the multivariate logistic regression model, greater parental priority given to family mealtimes (P < 0.001) and more home-prepared meals (P < 0.001) predicted occurrence of regular family meals; adjusting for parent work status and other family meal habits. Strategies for promoting families meals should not only highlight

Associations of family meal frequency with family meal habits and meal preparation characteristics among families of youth with type 1 diabetes

PubMed Central

Kornides, M. L.; Nansel, T. R.; Quick, V.; Haynie, D. L.; Lipsky, L. M.; Laffel, L. M. B.; Mehta, S. N.

2014-01-01

Background While benefits of family mealtimes, such as improved dietary quality and increased family communication, have been well-documented in the general population, less is known about family meal habits that contribute to more frequent family meals in youth with type 1 diabetes. Methods This cross-sectional study surveyed 282 youth ages 8–18 years with type 1 diabetes and their parents on measures regarding diabetes-related and dietary behaviours. T-tests determined significant differences in youth's diet quality, adherence to diabetes management and glycaemic control between those with and without regular family meals (defined as ≥5 meals per week). Logistic regression analyses determined unadjusted and adjusted associations of age, socio-demographics, family meal habits, and family meal preparation characteristics with regular family meals. Results 57% of parents reported having regular family meals. Families with regular family meals had significantly better diet quality as measured by the Healthy Eating Index (P < 0.05) and the NRF9.3 (P < 0.01), and adherence to diabetes management (P < 0.001); the difference in glycaemic control approached statistical significance (P = 0.06). Priority placed on, pleasant atmosphere and greater structure around family meals were each associated with regular family meals (P < 0.05). Meals prepared at home were positively associated with regular family meals, while convenience and fast foods were negatively associated (P < 0.05). Families in which at least one parent worked part-time or stayed at home were significantly more likely to have regular family meals than families in which both parents worked full-time (P < 0.05). In the multivariate logistic regression model, greater parental priority given to family mealtimes (P < 0.001) and more home-prepared meals (P < 0.001) predicted occurrence of regular family meals; adjusting for parent work status and other family meal habits. Conclusions Strategies for promoting

Work, Family, and Mental Health: Testing Different Models of Work-Family Fit.

ERIC Educational Resources Information Center

Grzywacz, Joseph G.; Bass, Brenda L.

2003-01-01

Using family resilience theory, this study examined the effects of work-family conflict and work-family facilitation on mental health among working adults to gain a better understanding of work-family fit. Results suggest that family to work facilitation is a family protective factor that offsets and buffers the deleterious effects of work-family…

Family Involvement in PSE: International Schools Easing the Transition of Mobile Families

ERIC Educational Resources Information Center

McLachlan, Debra A.

2008-01-01

The impact of family mobility from domestic or international moves can be challenging for families. Some families adjust and other families experience crisis. For some families, relocation may be due to a job promotion and transfer, while for other families moving may be due to divorce, loss of employment or other stressful circumstances.…

Families as Partners: Supporting Family Resiliency through Early Intervention

ERIC Educational Resources Information Center

Frantz, Rebecca; Hansen, Sarah Grace; Squires, Jane; Machalicek, Wendy

2018-01-01

Child development occurs within the context of the child's family, neighborhood, and community environment. Early childhood providers support positive outcomes, not only for the children with whom they directly work with but also for their families. Families of children with developmental delays often experience unique challenges. A family…

Deconstructing family meals: Do family structure, gender and employment status influence the odds of having a family meal?

PubMed

Sharif, Mienah Z; Alcalá, Héctor E; Albert, Stephanie L; Fischer, Heidi

2017-07-01

We assessed the odds of having a family dinner by parental gender, family structure and parental employment. This study used data from the American Time Use Survey (ATUS) (2006-2008). Multivariate analyses assessed the odds of two outcomes among parents: 1) eating at all with children and 2) having a family dinner. Single men had lower odds of eating at all with children and eating a family dinner in comparison to partnered/married males. Partnered/married women had increased odds of eating at all with children and eating a family dinner compared to their partnered/married male counterparts. While single women had increased odds of eating at all with children compared to partnered/married males, no difference was detected in the odds of having a family dinner. Among dual-headed households, women had lower odds of eating a family dinner when both parents were employed compared a dual-headed household with employed male/non-employed female. There were no differences among men regardless of their employment status or that of their partner/spouse. Family structure, parental gender and employment status all influence the odds of having a family dinner. Future research on family meals should consider all of these factors to better understand trends and disparities across household compositions. Copyright © 2017. Published by Elsevier Ltd.

Strengthening Family Practices for Latino Families

ERIC Educational Resources Information Center

Chartier, Karen G.; Negroni, Lirio K.; Hesselbrock, Michie N.

2010-01-01

This study examined the effectiveness of a culturally adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9- to 12-year-old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted…

Prenatal family support, postnatal family support and postpartum depression.

PubMed

Xie, Ri-Hua; Yang, Jianzhou; Liao, Shunping; Xie, Haiyan; Walker, Mark; Wen, Shi Wu

2010-08-01

Inadequate social support is an important determinant of postpartum depression (PPD). Social support for pregnant women consists of supports from various sources and can be measured at different gestation periods. Differentiating the effects of social support from different sources and measured at different gestation periods may have important implications in the prevention of PPD. In the family centred Chinese culture, family support is likely to be one of the most important components in social support. The aim of this study was to assess the association of prenatal family support and postnatal family support with PPD. A prospective cohort study was conducted between February and September 2007 in Hunan, China. Family support was measured with social support rating scale at 30-32 weeks of gestation (prenatal support) and again at 2 weeks of postpartum visit (postnatal support). PPD was defined as Edinburgh Postnatal Depression Scale (EPDS) score > or =13. A total of 534 pregnant women were included, and among them, 103 (19.3%) scored 13 or more on the EPDS. PPD was 19.4% in the lowest tertile versus 18.4% in the highest quartile (adjusted odds ratio: 1.04, 95% confidence interval 0.60, 1.80) for prenatal support from all family members, and PPD was 39.8% in the lowest tertile versus 9.6% in the highest tertile (adjusted odds ratio: 4.4, 95% confidence interval 2.3, 8.4) for postnatal support from all family members. Among family members, support from husband had the largest impact on the risk of developing PPD. Lack of postnatal family support, especially the support from husband, is an important risk factor of PPD.

Family participation in intensive care unit rounds: Comparing family and provider perspectives.

PubMed

Au, Selena S; Roze des Ordons, Amanda; Soo, Andrea; Guienguere, Simon; Stelfox, Henry T

2017-04-01

To describe and compare intensive care unit (ICU) patient family member and provider experiences, preferences, and perceptions of family participation in ICU rounds. Cross-sectional survey of ICU family members and providers of patients admitted to 4 medical-surgical ICUs from September 2014 to March 2015. Surveys were completed by 63 (62%) family members and 258 (43%) providers. Provider respondents included physicians (9%), nurses (56%), respiratory therapists (24%), and other ICU team members (11%). Although 38% of providers estimated only moderate family member interest in participating in rounds, 97% of family members expressed high interest. Family members and providers reported listening (95% vs 96%; P=.594) and sharing information about the patient (82% vs 82%; P=.995) as appropriate roles for family members during rounds, but differed in their perceptions on asking questions (75% vs 86%; P=.043) and participating in decision making (36% vs 59%; P=.003). Compared with family members, providers were more likely to perceive family participation in rounds to cause family stress (7% vs 22%; P=.020) and confusion (0% vs 28%; P<.001). Family members and providers share some perspectives on family participation in ICU rounds although other perspectives are discordant, with implications for communication strategies and collaborative decision making. Copyright © 2016 Elsevier Inc. All rights reserved.

The effect of families on the process of outpatient visits in family practice.

PubMed

Main, D S; Holcomb, S; Dickinson, P; Crabtree, B F

2001-10-01

Our goal was to describe how physician knowledge of patients' families affects the processes of patient care in family practices. Using a multimethod comparative case study design, detailed dictated field notes were recorded after direct observation of patient encounters and the office environment as part of the Prevention and Competing Demands in Primary Care Study. We identified domains of outpatient visits in which patients were accompanied by a family member or in which family-oriented content was discussed. Outpatient encounters with 1637 patients presenting in 18 family practices in the Midwest were analyzed using an editing style. We developed a typology for ways in which family context affects outpatient visits. Patients were accompanied during 35% of all outpatient visits, the vast majority of these visits involving children. Family history or a family member's problems were discussed during 35% of visits during which no family member was present. An analysis of these "family-oriented" visits resulted in a typology of 6 ways that family context informs and affects the outpatient visit: (1) using family social context to illuminate patient disease, illness, and health; (2) using family to discover the source of an illness; (3) discussing and managing the health and illness of family members; (4) family concern for patient's health; (5) using the family as a care resource and care collaborator; and, (6) giving family members unscheduled care. Family context is an important feature of family practice that influences the processes of patient care. Since family-oriented care is an essential feature of family practice, outcomes of this largely hidden part of care deserve further study.

Family quality of life of Chinese families of children with intellectual disabilities.

PubMed

Hu, X; Wang, M; Fei, X

2012-01-01

The concepts of quality of life and family quality of life (FQOL) are increasingly being studied in the field of intellectual disabilities (ID) in China as important frameworks for: (1) assessing families' need for supports and services; (2) guiding organisational and service delivery system changes; and (3) evaluating quality family outcomes. The present study focused on exploring the perceptions of Chinese families who have a child with an ID regarding FQOL as well as examining the factor structure of FQOL concept from Chinese families. The Chinese version of the Family Quality of Life Scale was used to survey Chinese families living in the urban and suburban areas of Beijing who have a child with ID. A total of 442 families participated in this study. Confirmatory factor analysis was used to test the factor structure of FQOL. Multivariate analysis was also used to examine group differences among families in terms of family demographic variables. A five-factor structure of the FQOL construct was found in the Chinese sample, suggesting a similar factor structure found from US families in the literature. Different living conditions (e.g. housing and transportation) tended to affect significantly families' satisfaction ratings of their FQOL. It is also found that family income and severity of disability of the child are predictors of families' satisfaction ratings of FQOL. The preliminary findings of this study suggest a cross-cultural factor structure comparability of FQOL between samples in the USA and China. Results call for further examination of the family-centred service and support as a mediator on the interactive relationship between family characteristics, family needs and FQOL outcomes. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.

Factors associated with family-centered involvement in family practice--a cross-sectional multivariate analysis.

PubMed

Deutsch, Tobias; Frese, Thomas; Sandholzer, Hagen

2014-01-01

The importance of a family-centered approach in family practice has been emphasized. Knowledge about factors associated with higher family-centered involvement seems beneficial to stimulate its realization. German office-based family physicians completed a questionnaire addressing several aspects of family-centered care. Logistic regression was used to identify associations with the involvement overall and in different domains: routine inquiry and documentation of family-related information, family orientation regarding diagnosis and treatment, family-oriented dialogues, family conferences, and case-related collaboration with marriage and family therapists. We found significant associations between physicians' family-centered involvement and expected patient receptiveness, perceived impact of the family's influence on health, self-perceived psychosocial family-care competences (overall and concerning concepts for family orientation, psychosocial intervention in family conferences, and the communication of the idea of family counseling), advanced training in psychosocial primary care (PPC), personal acquaintance with family therapists (regarding case-related collaboration), and rural office environment. Increased emphasis on the family's influence on health in medical education and training, the provision of concepts for a family-centered perspective, and versatile skills for psychosocial intervention and inquiry of patient preferences, as well as the strengthening of networking between family physicians and family therapists, might promote the family-centered approach in family practice.

Fostering Family-Centered Practices through a Family-Created Portfolio

ERIC Educational Resources Information Center

Gregg, Katy; Rugg, Mary; Souto-Manning, Mariana

2011-01-01

When a child has disabilities, families and professionals must communicate their concerns and goals for the child. Often these concerns are expressed as weaknesses within a deficits-based framework. The use of a strengths-based, family-created portfolio is a communication strategy for reconceptualizing a child from the family's perspective in…

Family-focused interventions and resources for veterans and their families.

PubMed

Sherman, Michelle D; Larsen, Jessica L

2018-05-01

Accelerated by the decreasing military presence in Iraq and Afghanistan, many military members are currently transitioning out of active duty into civilian life. Many of these new veterans have recently experienced combat deployment(s), and some are struggling with the aftermath of combat exposure, separation from family, and reintegration stressors. These challenges often follow these military families as they enter the civilian world, a time with its own major life changes vocationally, socially, and interpersonally. Although numerous resources have been developed to assist service members during their transition to the civilian world, relatively fewer exist for partners, children, and broader family systems. Family psychoeducation is a nonpathologizing, strengths-focused model of care that has documented benefits in the arena of mental illness. This article describes some manualized family psychoeducational programs and online and phone-based resources that may be useful to veteran families during this time of change. The programs and resources described herein are all available for free, primarily online. Because of a wide variety of barriers and limitations for family based care in the Veterans Affairs health care system, veteran families are and will continue to seek mental health care in public sector settings. Community providers can enhance their military culture competence by familiarizing themselves with these resources and drawing upon them in working with transitioning military families. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Family resources for families of children with cerebral palsy in Jordan: psychometric properties of the Arabic-family resources scale.

PubMed

Almasri, N A; Saleh, M; Dunst, C J

2014-05-01

Resource-based, family-centred practices are associated with better health, emotional, and social well-being of children with disabilities. The adequacy of resources available for families of children with disabilities in Middle Eastern countries has not been described adequately in part because of lack of measures that are culturally adapted to be used in Arabic countries. Therefore, this study aims to (1) to evaluate the psychometric properties of the Arabic-Family Resource Scale (A-FRS) on a sample of families of children cerebral palsy (CP); (2) examine the adequacy of family resources as perceived by parents of children with CP in Jordan; and (3) examine the influence of child and family demographic variables on how parents report resources available to their families. A cross-section design was applied. One-hundred fifteen parents of children with CP with mean age 4.6 years (SD = 4.4) and their parents participated in the study. Research assistants interviewed the participants to complete the A-FRS, and family and child demographic questionnaire, and determined the Gross Motor Function Classification System level of children. The principal axis factoring of the A-FRS yielded a six-factor solution that accounted for 67.39% of the variance and that is different than the factor structure reported by the developers of the FRS. Cronbach’s coefficient alpha of the total score of family resources was 0.86 indicating a good internal consistency and the test–retest reliability for the total scale score was r = 0.92 (P = 0.000) indicating excellent test–retest reliability. Child health and family income were significantly associated with the total score of the A-FRS. The A-FRS is a valid and reliable measure of family resources for Jordanian families of children with CP. Service providers are encouraged to use A-FRS with families to plan resource-based interventions in which family resources are mobilized to meet family needs.

Family members' influence on family meal vegetable choices

PubMed Central

Wenrich, Tionni R.; Brown, J. Lynne; Miller-Day, Michelle; Kelley, Kevin J.; Lengerich, Eugene J.

2010-01-01

Objective Characterize the process of family vegetable selection (especially cruciferous, deep orange, and dark green leafy vegetables); demonstrate the usefulness of Exchange Theory (how family norms and past experiences interact with rewards and costs) for interpreting the data. Design Eight focus groups, two with each segment (men/women vegetable-likers/dislikers based on a screening form). Participants completed a vegetable intake form. Setting Rural Appalachian Pennsylvania. Participants 61 low-income, married/cohabiting men (n=28) and women (n=33). Analysis Thematic analysis within Exchange Theory framework for qualitative data. Descriptive analysis, t-tests and chi-square tests for quantitative data. Results Exchange Theory proved useful for understanding that regardless of sex or vegetable-liker/disliker status, meal preparers see more costs than rewards to serving vegetables. Past experience plus expectations of food preparer role and of deference to family member preferences supported a family norm of serving only vegetables acceptable to everyone. Emphasized vegetables are largely ignored due to unfamiliarity; family norms prevented experimentation and learning through exposure. Conclusions and Implications Interventions to increase vegetable consumption of this audience could 1) alter family norms about vegetables served, 2) change perceptions of past experiences, 3) reduce social and personal costs of serving vegetables and 4) increase tangible and social rewards of serving vegetables. PMID:20452288

Identification of cDNAs encoding HSP70 and HSP90 in the abalone Haliotis tuberculata: Transcriptional induction in response to thermal stress in hemocyte primary culture.

PubMed

Farcy, Emilie; Serpentini, Antoine; Fiévet, Bruno; Lebel, Jean-Marc

2007-04-01

Heat-shock proteins are a multigene family of proteins whose expression is induced by a variety of stress factors. This work reports the cloning and sequencing of HSP70 and HSP90 cDNAs in the gastropod Haliotis tuberculata. The deduced amino acid sequences of both HSP70 and HSP90 from H. tuberculata shared a high degree of homology with their homologues in other species, including typical eukaryotic HSP70 and HSP90 signature sequences. We examined their transcription expression pattern in abalone hemocytes exposed to thermal stress. Real-time PCR analysis indicated that both HSP70 and HSP90 mRNA were expressed in control animals but rapidly increased after heat-shock.

Children's Self-Concepts as Related to Family Structure and Family Concept.

ERIC Educational Resources Information Center

Parish, Joycelyn G.; Parish, Thomas S.

1983-01-01

Surveyed 426 children from intact, divorced, and reconstituted families, who responded to the Personal Attribute Inventory for Children to evaluate their families and themselves. Results showed a significant association between children's self-concepts and both their family structure and family concepts. (JAC)

Comprehension on family-centered rounds for limited English proficient families.

PubMed

Lion, K Casey; Mangione-Smith, Rita; Martyn, Molly; Hencz, Patty; Fernandez, Juan; Tamura, Glen

2013-01-01

To describe communication with limited English proficient (LEP) families during family-centered rounds (FCR); to examine differences in family understanding of diagnosis and plan by English proficiency and provider and interpreter rounding behaviors. Forty-one English proficient (EP) and 40 LEP parents of pediatric inpatients participated in a prospective cohort study from January to October 2011. Eligible LEP families self-reported a preference for medical communication in Spanish, Somali, or Vietnamese. Rounds were observed; families were interviewed afterward. Parent- and provider-reported diagnosis and plan were compared and classified as correct, incorrect, or incomplete by 3 blinded investigators. Logistic regression adjusted for potential confounders. Fifty percent of LEP rounding encounters involved interpreters filtering information conveyed to families; 43% involved initial medical discussions without families present (vs 12% for EP, P = .002). Providers more frequently provided a plain language summary for LEP families (88% vs 56%, P = .001). LEP and EP families had similar ability to correctly name the child's diagnosis (70% vs 83%, P = .17) and all plan elements (38% vs 39%, P = .88). Results were unchanged after adjusting for parental characteristics and hospital day. Among LEP families, naming the correct diagnosis was positively associated with experience with a hospitalized child (odds ratio 5.11, 95% confidence interval 1.04-24.9) and may be negatively associated with interpreter filtering (odds ratio 0.22, 95% confidence interval 0.05-1.13). Having initial medical discussions without the family and information filtering are common for LEP patients; filtering may be associated with poorer diagnosis comprehension. Experience with a hospitalized child is associated with increased comprehension among LEP parents. Copyright © 2013 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

Families and Family Psychology at the Millennium: Intersecting Crossroads.

ERIC Educational Resources Information Center

Kaslow, Florence W.

2001-01-01

Presents a global overview of issues and trends confronting families and family psychologists in the 21st century. Makes linkages to what psychologists can do as clinicians and researchers regarding different problems and issues, each of which is manifested at the individual, family, and societal level. Includes predictions about new and expanding…

Family breakup and adolescents' psychosocial maladjustment: public health implications of family disruptions.

PubMed

Roustit, Christelle; Chaix, Basile; Chauvin, Pierre

2007-10-01

Recent changes in family structure are associated with an increase in psychosocial maladjustment in adolescents. We examined, from a public health intervention perspective, the association between family breakup and psychosocial maladjustment in adolescents and assessed the mediating role of family-functioning variables. We analyzed data from the Social and Health Survey of Children and Adolescents in Quebec, Montreal, Canada, which was conducted in 1999. Sample-weighted logistic regression analyses were performed to determine the risk of internalizing disorders, externalizing disorders, substance abuse, and alcohol consumption in relation to family breakups and family-functioning variables, after adjusting for socioeconomic factors. All 4 of the indicators of psychosocial maladjustment were significantly associated with family breakup. The association between family breakups and internalizing disorders was mediated by parental psychological distress and low paternal emotional support. Independently, the witnessing of interparental violence was also strongly associated with internalizing disorders. For the other 3 outcomes, that is, externalizing disorders, substance abuse, and alcohol consumption, family breakup and family-functioning variables had independent effects. Family-based interventions and social approaches are complementary support modalities for adolescents experiencing family disruptions.

A discussion of HIV/AIDS family interventions: implications for family-focused nursing practice.

PubMed

Eustace, Rosemary W

2013-07-01

This article presents a discussion on the role of family interventions in HIV/AIDS disease prevention and care. Although HIV/AIDS epidemic and its impact on the society traditionally has been measured in terms of individual risk behaviours and individual-level HIV prevention, HIV/AIDS family-focused prevention and management strategies are increasingly becoming a priority. However, little is known as to what constitutes a HIV/AIDS family intervention. The search was limited to English and published literature starting in the year 1983 to date. CINAHL and PubMed were emphasized using a combination of text words and subject headings. Cochrane Library, PsycInfo, Scopus, and the ISI Web of Science databases were also searched using keywords and in the case of PsycInfo, subject headings were used. The main keywords were 'nurse', or 'nursing', 'HIV/AIDS', 'family interventions', 'family support' and 'family education', and/or 'family subsystems'. The process of theorizing about 'family interventions' and 'HIV/AIDS-family interventions' is critical for putting forth essential components unique for designing culturally specific HIV/AIDS family interventions. In addition, any proposed design of HIV/AIDS family intervention should consider the impact of HIV/AIDS on the family across the family life span, disease trajectory, and from an interdisciplinary perspective. Training needs of family nurses should be met when designing multidisciplinary HIV/AIDS-FIs. Furthermore, nurses should be proactive in advocating for HIV/AIDS family intervention and HIV/AIDS family policies to improve outcomes in family functioning, processes, and relationships. More needs to be done in regard to research on families, family interventions, effectiveness, and cost of family-focused approaches. © 2012 Blackwell Publishing Ltd.

Family Science Night: Changing Perceptions One Family at a Time

NASA Technical Reports Server (NTRS)

Pesnell, W. D.; Drobnes, E.; Mitchell, S.; Colina-Trujillo, M.

2007-01-01

If students are not encouraged to succeed in science, mathematics, and technology classes at school, efforts to improve the quality of content and teaching in these subjects may be futile. Parents and families are in a unique position to encourage children to enroll and achieve in these classes. The NASA Goddard Space Flight Center Family Science Night program invites middle school students and their families to explore the importance of science and technology in our daily lives by providing a venue for families to comfortably engage in learning activities that change their perception and understanding of science - making it more practical and approachable for participants of all ages. Family Science Night strives to change the way that students and their families participate in science, within the program and beyond.

Family boundary characteristics, work-family conflict and life satisfaction: A moderated mediation model.

PubMed

Qiu, Lin; Fan, Jinyan

2015-10-01

Although work-family border and boundary theory suggest individuals' boundary characteristics influence their work-family relationship, it is largely unknown how boundary flexibility and permeability mutually influence work-family conflict and subsequent employee outcomes. Moreover, the existing work-family conflict research has been mainly conducted in the United States and other Western countries. To address these gaps in the work-family literature, the present study examines a moderated mediation model regarding how family boundary characteristics may influence individuals' work-family conflict and life satisfaction with a sample of 278 Chinese full-time employees. Results showed that employees' family flexibility negatively related to their perceived work interference with family (WIF) and family interference with work (FIW), and both these two relationships were augmented by individuals' family permeability. In addition, WIF mediated the relationship between family flexibility and life satisfaction; the indirect effect of family flexibility on life satisfaction via WIF was stronger for individuals with higher family permeability. The theoretical and managerial implications of these findings are discussed. © 2014 International Union of Psychological Science.

Are single-parent families different from two-parent families in the treatment of adolescent bulimia nervosa using family-based treatment?

PubMed

Doyle, Angela Celio; McLean, Carmen; Washington, Blaine N; Hoste, Renee Rienecke; le Grange, Daniel

2009-03-01

To examine whether family-based treatment (FBT) for adolescent bulimia nervosa (BN), which emphasizes family involvement in helping to reduce binge eating and purging behaviors, is differentially efficacious in single-parent families versus two-parent families. Forty-one adolescents (97.6% female; 16.0 +/- 1.7 years old) with either BN (n = 18) or subthreshold BN (n = 23) were randomized to FBT as part of a larger randomized controlled trial studying treatments for adolescent BN. Two-parent (n = 27; 65.9%) and single-parent (n = 14; 34.2%) families were compared on demographic variables, presence of comorbid psychiatric illnesses, and symptoms of BN at baseline, post, and 6-month follow-up. ANOVA and chi-square analyses revealed no statistically significant differences between two-parent and single-parent families on any variables with the exception of ethnicity, for which a greater proportion of Caucasians and Hispanic families had two- parent families compared with African-American families (chi(2) = 8.68, p = .01). These findings suggest that FBT may be an appropriate and efficacious treatment for single-parent families as well as two-parent families, despite the reliance on parental intervention to reduce bulimic symptoms and normalize eating patterns.

Two Paycheck Families: Therapeutic Techniques to Enhance Family Functioning.

ERIC Educational Resources Information Center

Chambliss, Catherine; Hartl, Alan J.

American family life is being transformed by the trend toward two paycheck families, yet most people have not been socialized to live in this way, and social institutions have been slow to accommodate the needs of two paycheck families. Accordingly, this paper presents a package of therapeutic techniques designed to help members of two paycheck…

Families, Head Injury, and Cognitive-Communicative Impairments: Issues for Family Counseling.

ERIC Educational Resources Information Center

DePompei, Roberta; Zarski, John J.

1989-01-01

This paper calls for the incorporation of family counseling into rehabilitation programs treating cognitive-communicative disorders in head-injured individuals. The paper describes general family responses that may be anticipated when a family system experiences head injury, functional versus dysfunctional family responses to a crisis, and three…

Work-Family Conflict, Family-Supportive Supervisor Behaviors (FSSB), and Sleep Outcomes

PubMed Central

Crain, Tori L.; Hammer, Leslie B.; Bodner, Todd; Kossek, Ellen Ernst; Moen, Phyllis; Lilienthal, Richard; Buxton, Orfeu M.

2014-01-01

Although critical to health and well-being, relatively little research has been conducted in the organizational literature on linkages between the work-family interface and sleep. Drawing on Conservation of Resources theory, we use a sample of 623 information technology workers to examine the relationships between work-family conflict, family-supportive supervisor behaviors (FSSB), and sleep quality and quantity. Validated wrist actigraphy methods were used to collect objective sleep quality and quantity data over a one week period of time, and survey methods were used to collect information on self-reported work-family conflict, FSSB, and sleep quality and quantity. Results demonstrated that the combination of predictors (i.e., work-to-family conflict, family-to-work conflict, FSSB) was significantly related to both objective and self-report measures of sleep quantity and quality. Future research should further examine the work-family interface to sleep link and make use of interventions targeting the work-family interface as a means for improving sleep health. PMID:24730425

NASA Family Science Night: Changing perceptions one family at a time

NASA Astrophysics Data System (ADS)

Mitchell, Sara E.; Drobnes, Emilie; Sol Colina-Trujillo, M.; Noel-Storr, Jacob

2008-12-01

Parents and families have the greatest influence on children's attitudes towards education and career choices. If students' attitudes towards science, particularly the physical sciences, are not influenced positively by parental/familial attitudes, efforts to improve the quality of content and teaching of these subjects in school may be futile. Research shows that parental involvement increases student achievement outcomes, and family-oriented programs have a direct impact on student performance. Based on this premise, the NASA Goddard Space Flight Center started a series of Family Science Nights for middle school students and their families. The program provides a non-threatening venue for families to explore the importance of science and technology in our daily lives by engaging in learning activities that change their perception and understanding of science - making it more practical and approachable for participants of all ages. Family Science Night strives to change the way that students and their families participate in science, within the program and beyond.

South African Families Raising Children with Autism Spectrum Disorders: Relationship between Family Routines, Cognitive Appraisal and Family Quality of Life

ERIC Educational Resources Information Center

Schlebusch, L.; Samuels, A. E.; Dada, S.

2016-01-01

Background: The purpose of this study was to investigate the relationship between family routines, cognitive appraisal of the impact of autism spectrum disorders (ASD) on the family and family quality of life (FQOL) in families raising children with ASD in South Africa. Methods: A sample of 180 families of young children with ASD who were…

A structural model of family empowerment for families of children with special needs.

PubMed

Han, Kuem Sun; Yang, Yunkyung; Hong, Yeong Seon

2018-03-01

To explain and predict family empowerment in families of children with special needs. Family empowerment of families of children with special needs can be explained using the Double ABCX model. Although constant stressors such as parenting stress and family demands can have negative effects on family empowerment, family resources and parenting efficacy can mediate the negative effect through effective coping strategies. A cross-sectional research design was employed. A survey was conducted with 240 parents of children with special needs. Upon exclusion of four responses deemed inadequate to the statistics process, 236 responses were selected for the analysis. Based on the items used in the previous research, we used the scale of family demands 38, the scale of parenting stress 24, the scale of parenting efficacy 37, the scale of pattern of organisation 30, the scale of communication process 16 and the scale of family empowerment 32. In families of children with special needs, parenting stress had a negative effect on parenting efficacy and family resources, namely, pattern of organisation and communication process. Family needs had a positive effect on parenting efficacy. Parenting stress and family demands influenced family empowerment through parenting efficacy and family resources (pattern of organisation and communication process), while parenting efficacy contributed to family empowerment. This study empirically analysed the usefulness of the Double ABCX model in predicting family empowerment. Family resource factors (organisation pattern and communication process) and perception or judgement factors (such as parenting efficacy) were found to mediate the negative impact of various stressors experienced by families of children with special needs. The study findings suggest that clinical practice and management should focus on providing efficient intervention methods to lower stress in families of children with special needs. Reinforcing factors contributing to

Family Policy

DTIC Science & Technology

1988-12-30

comander in coordination with installation residents, activities, and family support program managers . Unresourced requirements are forwarded through...members and their families in keeping their personal financial affairs in order. The program provides basic money management and consumer education...Directive 1342.16 (references (d) through (f)). 7. Deployment Support. Helps single and married Military Service members and their families to manage

Familial Idiopathic Cranial Neuropathy in a Chinese Family.

PubMed

Zhang, Li; Liang, Jianfeng; Yu, Yanbing

Cranial neuropathy is usually idiopathic and familial cases are uncommon. We describe a family with 5 members with cranial neuropathy over 3 generations. All affected patients were women, indicating an X-linked dominant or an autosomal dominant mode of inheritance. Our cases and a review of the literature suggest that familial idiopathic cranial neuropathy is a rare condition which may be related to autosomal dominant vascular disorders (e.g. vascular tortuosity, sclerosis, elongation or extension), small posterior cranial fossas, anatomical variations of the posterior circulation, hypersensitivity of cranial nerves and other abnormalities. Moreover, microvascular decompression is the treatment of choice because vascular compression is the main factor in the pathogenesis. To the best of our knowledge, this is the first report of familial cranial neuropathy in China.

The Influences of Family Leisure Patterns on Perceptions of Family Functioning.

ERIC Educational Resources Information Center

Zabriskie, Ramon B.; McCormick, Bryan P.

2001-01-01

Conducted a preliminary test of a model of family leisure functioning by examining the relationship of core and balance family leisure patterns to family cohesion and adaptability. Hypothesized that core leisure patterns address family needs for stability and facilitate cohesive relationships, whereas balance leisure patterns address the need for…

Measuring Family Problem Solving: The Family Problem Solving Diary.

ERIC Educational Resources Information Center

Kieren, Dianne K.

The development and use of the family problem-solving diary are described. The diary is one of several indicators and measures of family problem-solving behavior. It provides a record of each person's perception of day-to-day family problems (what the problem concerns, what happened, who got involved, what those involved did, how the problem…

Are family characteristics associated with attendance at family centered rounds in the PICU?.

PubMed

Drago, Matthew J; Aronson, Paul L; Madrigal, Vanessa; Yau, Jennifer; Morrison, Wynne

2013-02-01

The objective of this study was to identify if family characteristics or opinions affected participation in family centered rounds. Observational study of 431 patient encounters on daily work rounds, followed by 100 questionnaires completed by family members of patients in the unit during observation. PICU at a tertiary care, academic, free-standing children's hospital. Patients and families admitted to the PICU during the observation period. None. The most frequent family members present for rounds were mothers (40%). Race, educational level, age of the family member, age of the child, whether the admission was expected, and whether the family member was a medical professional had no association with whether the family member attended rounds. Both family members who were present and those who were not present felt being at rounds would improve the care of their child (87% vs. 100%, p = 0.57). A family's response that they preferred to attend rounds was the only factor associated with a higher likelihood of attending rounds (odds ratio 3.4, 95% confidence interval 1.1-10.8, p = 0.03). Families feel that participating in family centered rounds improves the care of their children. Those that like attending rounds are more likely to participate in family centered rounds, but family demographic characteristics were not associated with rounds attendance. Future studies are needed to identify barriers to family participation in family centered rounds.

Training Patient and Family Storytellers and Patient and Family Faculty

PubMed Central

Morrise, Lisa; Stevens, Katy Jo

2013-01-01

Narrative medicine has become a prominent method of developing more empathetic relationships between medical clinicians and patients, on the basis of a deeper understanding of the patient experience. Beyond its usefulness during clinical encounters, patient storytelling can inform processes and procedures in Advisory Councils, Committee Meetings, and Family as Faculty settings, leading to improved quality and safety in health care. Armed with a better understanding of the patient experience, clinicians and administrators can make decisions, hopefully in collaboration with patients, that will enrich the patient experience and increase satisfaction among patients, families, and staff. Patient and family storytelling is a key component of the collaboration that is ideal when an organization seeks to deliver patient- and family-centered care. Providing patients and families with training will make the narratives they share more powerful. Health care organizations will find that purposeful storytelling can be an invaluable aspect of a patient- and family-centered culture. Well-delivered storytelling will support quality- and safety-improvement efforts and contribute to improved patient satisfaction. This article provides instruction for teaching patients and families how to tell stories with purpose and offers advice about how to support patients, families, and clinicians participating in this effort. PMID:24355906

Roles within the Family

MedlinePlus

... Adoption & Foster Care Communication & Discipline Types of Families Media Work & Play Getting Involved in Your Community Healthy Children > Family Life > Family Dynamics > Roles Within the Family Family Life Listen Español Text ...

Family patterns and primary prevention of family violence.

PubMed

Straus, M A; Smith, C

1993-01-01

Although services for victims and treatment programs for batterers have priority in efforts to ameliorate family violence, primary prevention programs are also essential. The importance of primary prevention lies not only in the suffering which can avoided, but also because it is unlikely that sufficient treatment resources can be allocated to match the magnitude of the problem. The latter point is illustrated by the results of a study of nationally representative samples of 2,143 families (studied in 1975) and 6,002 families (studied in 1985). These studies show that a minimum of 16% of American couples experienced an assault during the year of the study, and that about 40% of these involved severely violent acts, such as kicking, biting, punching, choking, and attacks with weapons. These studies also identified risk factors that can serve as the focus for primary prevention, for example, early marriage, male dominance in the family and use of physical punishment. Educational and therapeutic efforts, and economic changes, which encourage equality and which teach the skills necessary for an equal relationship, can help prevent family violence.

Families living with chronic illness: beliefs about illness, family, and health care.

PubMed

Årestedt, Liselott; Benzein, Eva; Persson, Carina

2015-05-01

Beliefs can be described as the lenses through which we view the world. With emerging illness, beliefs about the illness experience become important for nurses to understand to enhance well-being and healing. The aim of this study was to illuminate illness beliefs of families living with chronic illness. A qualitative design was chosen, including repeated narrative research interviews with seven Swedish families living with chronic illness. Hermeneutic analysis was used to interpret the transcribed family interviews. The result described beliefs in families, both within and across families. Both core beliefs and secondary beliefs about illness, family, and health care were revealed. Illness beliefs have importance for how families respond to and manage situations that arise from their encounters with illness. Nurses have to make space for and listen to families' stories of illness to become aware of what beliefs may support and encourage family well-being and healing. The Illness Beliefs Model provides a touchstone whereby nurses can distinguish both individual and shared beliefs within families living with chronic illness and provide ideas for family intervention if needed. © The Author(s) 2015.

Families and the Juvenile Justice System: Considerations for Family-Based Interventions.

PubMed

Amani, Bita; Milburn, Norweeta G; Lopez, Susana; Young-Brinn, Angela; Castro, Lourdes; Lee, Alex; Bath, Eraka

We conducted focus groups with defense lawyers, clinicians, and education advocates to gather their perspectives on families' experiences with the juvenile justice system. Our quantitative descriptive analysis identified a range of themes such as discussions about the poor treatment of families as well as recommendations for a shifting of power to families. These perspectives may provide insights about the context in which families are expected to participate in interventions, meet probationary demands, and provide for their youth's well-being. The results support evidence gathered from families about the impact of youth incarceration on their lives and has implications for practitioners and researchers working with families whose youth have been incarcerated.

Children's Influence on Family Dynamics: The Neglected Side of Family Relationships.

ERIC Educational Resources Information Center

Crouter, Ann C.; Booth, Alan

The central premise of this volume is that children bring personal qualities to their relationships with other family members that help shape family interaction, relationships, and even processes that family researchers have called "parenting." The chapters address how children's personal qualities make their mark on families in ways that may in…

South African families raising children with autism spectrum disorders: relationship between family routines, cognitive appraisal and family quality of life.

PubMed

Schlebusch, L; Samuels, A E; Dada, S

2016-05-01

The purpose of this study was to investigate the relationship between family routines, cognitive appraisal of the impact of autism spectrum disorders (ASD) on the family and family quality of life (FQOL) in families raising children with ASD in South Africa. A sample of 180 families of young children with ASD who were receiving disability-related services in the Gauteng province of South Africa completed a self-administered survey. Structural equation modelling was used to examine the direct relationship between the regularity of family routines and FQOL, and the mediating effect of cognitive appraisal on this relationship. The results suggested a direct, positive relationship between the regularity of family routines and families' satisfaction with their FQOL. Furthermore, cognitive appraisal of the impact of ASD on the family mediated this relationship in a partial manner. A higher frequency of regular family routines was strongly associated with a higher satisfaction level of FQOL. Also, cognitive appraisal of the impact of ASD acted as a mechanism through which the regularity of family routines influenced FQOL. We discuss the research and clinical implications of these findings. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Family demands, social support and caregiver burden in Taiwanese family caregivers living with mental illness: the role of family caregiver gender.

PubMed

Hsiao, Chiu-Yueh

2010-12-01

The purpose of this study was to assess gender effects on family demands, social support and caregiver burden as well as to examine contributing factors of caregiver burden in caring for family members with mental illness. Providing continued care and support for people with mental illness is demanding and challenging. Findings of earlier caregiving studies on the role of caregiver gender in response to caregiver burden and caregiving-related factors have been inconsistent. Little research has been undertaken to examine gender effect on family demands, social support and caregiver burden in Taiwanese family caregivers of individuals with mental illness. Cross-sectional, descriptive correlation design. Data from 43 families, including at least one male and female family caregiver in each family, were analysed using descriptive statistics, principal component analysis and mixed linear modelling. Demographic data, Perceived Stress Scale, Perceived Social Support and Caregiver Burden Scale-Brief were used to collect data. Female family caregivers perceived less social support and experienced higher degrees of caregiver burden compared with male family caregivers. In contrast, no significant gender effect was associated with family demands. Family caregivers with greater family demands and less social support experienced higher degrees of caregiver burden. The results reinforced those of previously published studies that caregiver burden is highly prevalent among female family caregivers. Caregiver gender appears to be highly valuable for explaining family demands, social support and caregiver burden. Health care professionals should continue to collaborate with family caregivers to assess potential gender effects on available support and design gender-specific interventions to alleviate caregiver burden. © 2010 Blackwell Publishing Ltd.

Factors of caregiver burden and family functioning among Taiwanese family caregivers living with schizophrenia.

PubMed

Hsiao, Chiu-Yueh; Tsai, Yun-Fang

2015-06-01

To assess the degree of caregiver burden and family functioning among Taiwanese primary family caregivers of people with schizophrenia and to test its association with demographic characteristics, family demands, sense of coherence and family hardiness. Family caregiving is a great concern in mental illness. Yet, the correlates of caregiver burden and family functioning in primary family caregivers of individuals with schizophrenia still remain unclear. A cross-sectional descriptive study. A convenience sample of 137 primary family caregivers was recruited from two psychiatric outpatient clinics in Taiwan. Measures included a demographic information sheet and the Chinese versions of the Family Stressors Index, Family Strains Index, 13-item Sense of Coherence Scale, 18-item Caregiver Burden Scale, Family Hardiness Index and Family Adaptability, Partnership, Growth, Affection, and Resolve Index. Data analysis included descriptive statistics, Pearson's product-moment correlation coefficients, t-test, one-way analysis of variance and a stepwise multiple linear regression. Female caregivers, additional dependent relatives, increased family demands and decreased sense of coherence significantly increased caregiver burden, whereas siblings as caregivers reported lower degrees of burden than parental caregivers. Family caregivers with lower family demands, increased family hardiness and higher educational level had significantly enhanced family functioning. Sense of coherence was significantly correlated with family hardiness. Our findings highlighted the importance of sense of coherence and family hardiness in individual and family adaptation. Special attention needs to focus on therapeutic interventions that enhance sense of coherence and family hardiness, thereby improving the perception of burden of care and family functioning. Given the nature of family caregiving in schizophrenia, understanding of correlates of caregiver burden and family functioning would help

Family.

ERIC Educational Resources Information Center

Hurst, Hunter, Ed.; And Others

1985-01-01

This document contains the fourth volume of "Today's Delinquent," an annual publication of the National Center for Juvenile Justice. This volume deals with the issue of the family and delinquency. "The Family and Delinquency" (LaMar T. Empey) systematically reviews and weighs the evidence to support prominent theories on the origins of…

Family Relationships and Psychosocial Dysfunction Among Family Caregivers of Patients With Advanced Cancer.

PubMed

Nissen, Kathrine G; Trevino, Kelly; Lange, Theis; Prigerson, Holly G

2016-12-01

Caring for a family member with advanced cancer strains family caregivers. Classification of family types has been shown to identify patients at risk of poor psychosocial function. However, little is known about how family relationships affect caregiver psychosocial function. To investigate family types identified by a cluster analysis and to examine the reproducibility of cluster analyses. We also sought to examine the relationship between family types and caregivers' psychosocial function. Data from 622 caregivers of advanced cancer patients (part of the Coping with Cancer Study) were analyzed using Gaussian Mixture Modeling as the primary method to identify family types based on the Family Relationship Index questionnaire. We then examined the relationship between family type and caregiver quality of life (Medical Outcome Survey Short Form), social support (Interpersonal Support Evaluation List), and perceived caregiver burden (Caregiving Burden Scale). Three family types emerged: low-expressive, detached, and supportive. Analyses of variance with post hoc comparisons showed that caregivers of detached and low-expressive family types experienced lower levels of quality of life and perceived social support in comparison to supportive family types. The study identified supportive, low-expressive, and detached family types among caregivers of advanced cancer patients. The supportive family type was associated with the best outcomes and detached with the worst. These findings indicate that family function is related to psychosocial function of caregivers of advanced cancer patients. Therefore, paying attention to family support and family members' ability to share feelings and manage conflicts may serve as an important tool to improve psychosocial function in families affected by cancer. Copyright © 2016 American Academy of Hospice and Palliative Medicine. All rights reserved.

Happiness among Adolescent Students in Thailand: Family and Non-Family Factors

ERIC Educational Resources Information Center

Gray, Rossarin Soottipong; Chamratrithirong, Aphichat; Pattaravanich, Umaporn; Prasartkul, Pramote

2013-01-01

This paper explores family and non-family factors contributing to happiness among students aged 15-18 in Thailand. Data come from the Social and Cultural Situation and Mental Health Survey (n = 905). Based on regression analysis, family factors are more important than non- family factors in explaining the variations in adolescents' happiness.…

75 FR 9247 - Single Family Mortgage Insurance Premium, Single Family

Federal Register 2010, 2011, 2012, 2013, 2014

2010-03-01

... is soliciting public comments on the subject proposal. Lenders use the Single Family Premium... DEPARTMENT OF HOUSING AND URBAN DEVELOPMENT [Docket No. FR-5376-N-13] Single Family Mortgage Insurance Premium, Single Family AGENCY: Office of the Chief Information Officer, HUD. ACTION: Notice...

Family Counseling Interventions: Understanding Family Systems and the Referral Process.

ERIC Educational Resources Information Center

McWhirter, Ellen Hawley; And Others

1993-01-01

This article describes concepts underlying the idea of the "family as a system"; compares and contrasts four approaches to family therapy (those of Virginia Satir, Jay Haley, Murray Bowen, and Salvador Minuchin); and offers suggestions to teachers referring parents for family counseling. (DB)

Families living with parental mental illness and their experiences of family interventions.

PubMed

Afzelius, M; Plantin, L; Östman, M

2018-03-01

WHAT IS KNOWN ON THE SUBJECT?: Coping with parental mental illness in families can be challenging for both children and parents. Providing evidence-based family interventions to families where a parent has a mental illness can enhance the relationships in the family. Although psychiatric research has shown that evidence-based family interventions may improve the communication and understanding of parental mental illness, there is a lack in this area of research from an everyday clinical context. WHAT DOES THIS PAPER ADD TO EXISTING KNOWLEDGE?: Our study reinforces the fact that parents with mental illnesses are searching for support from psychiatric services in order to talk to their children about their illness. The finding that under-age children comply when they are told by their parents to join an intervention in psychiatric services supporting the family is something not observed earlier in research. This study once more illuminates the fact that partners of a person with parental mental illness are seldom, in an obvious way, included in family support interventions. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Psychiatric services, and especially mental health nurses, have an important task in providing families with parental mental illness with support concerning communication with their children and in including the "healthy" partner in family support interventions. Introduction Although research has shown that evidence-based family interventions in research settings improve the communication and understanding of parental mental illness, there is a lack of knowledge about interventions in an everyday clinical context. Aim This study explores how families with parental mental illness experience family interventions in a natural clinical context in psychiatric services. Method Five families with children aged 10-12 were recruited from psychiatric services in southern Sweden and interviewed in a manner inspired by naturalistic inquiry and content analysis. Both

Work, family, and gender: elements for a theory of work-family balance.

PubMed

Cantera, Leonor M; Cubells, Ma Eugenia; Martínez, Luz Ma; Blanch, Josep M

2009-11-01

Over last century, work was not only a means of economic survival, but also a very strong factor of psychological structuring and of organization of personal, family, and everyday life. The new world of work provides new challenges to the balance of work and family life. A questionnaire was administered to a sample of 453 people with the aim of analyzing the relation between variables such as family burdens and domestic responsibilities, and the appraisal of work and family, values involved in work-family balance. The results of this study show that, in the present economic and cultural context, assuming family burdens and domestic responsibilities increases the positive appraisal of work and family, both in men and women. This has theoretical and practical implications concerning the challenge of work-family balance.

Human Service Employees Coping with Job Stress, Family Stress and Work-Family Conflict.

ERIC Educational Resources Information Center

Carbone, Dominic J.

The intersection of work and family life has always been a popular topic of discussion among family theorists. This study examined human service employees in direct service positions coping with work stress, family stress, and work-family conflict. The effects of work stress, family stress and work-family conflict on depression were examined.…

Supporting Family Engagement in Home Visiting with the Family Map Inventories.

PubMed

Kyzer, Angela; Whiteside-Mansell, Leanne; McKelvey, Lorraine; Swindle, Taren

2016-01-01

The purpose of this study was to examine the feasibility and usefulness of a universal screening tool, the Family Map Inventory (F MI), to assess family strengths and needs in a home visiting program. The FMI has been used successfully by center-based early childcare programs to tailor services to family need and build on existing strengths. Home visiting coordinators (N = 39) indicated the FMI would provide useful information, and they had the capacity to implement. In total, 70 families who enrolled in a Home Instruction for Parents of Preschool Youngsters (HIPPY) program were screened by the coordinator. The results of the FMI provided meaningful information about the home and parenting environment. Overall, most caregivers provided high levels of school readiness and parental warmth and low levels of family conflict and parenting stress. On the other hand, many families did not provide adequate food quality, exhibited chaotic home environments, and practiced negative discipline. This study demonstrated that the FMI is a feasible and useful option to assess comprehensive family needs in home visiting programs. It also demonstrated that the FMI provided home visiting coordinators a system to measure family strengths and needs. This could provide an assessment of program effectiveness and changes in the family's environment.

Family Care Map: Sustaining family-centered care in Polytrauma Rehabilitation Centers

PubMed Central

Ford, James H.; Wise, Meg; Krahn, Dean; Oliver, Karen Anderson; Hall, Carmen; Sayer, Nina

2015-01-01

The study assessed sustainability of the Family Care Map, a family-centered approach to providing care for Veterans with polytrauma-related injuries, in four Department of Veterans Affairs Polytrauma Rehabilitation Centers. We applied a mixed-methods approach. Staff surveys used standardized measures of sustainability, commitment to change, information, and participation during implementation. Qualitative inquiry assessed Family Care Map implementation and facilitators and barriers to sustainability. Staff sustainability perceptions had a significant positive correlation with affective commitment to change, participation, and information received about the change process. Family Care Map integration into standard practices and use of its concepts with patients and families related to staff perceptions about sustainability. The degree of use and integration of the Family Care Map in traumatic brain injury/polytrauma care varied among the Polytrauma Rehabilitation Centers. Some successful sustainability strategies included integration into daily workflow and organizational culture. Examples of sustainability barriers included staff awareness and use and outdated information. Some practices, such as measuring and documenting the use of the Family Care Map in treatment plans, may not routinely occur. The focus on family-centered care will require further evaluation of organization-, staff-, and innovation-level attributes that influence sustainability of changes designed to improve family-centered care. PMID:25671632

Valsaria and the Valsariales

PubMed Central

Fournier, J.; Dai, D. Q.; Hyde, K. D.; Voglmayr, H.

2016-01-01

More than 100 recent collections of Valsaria sensu lato mostly from Europe were used to elucidate the species composition within the genus. Multigene phylogeny based on SSU, LSU, ITS, rpb2 and tef1 sequences revealed a monophyletic group of ten species within the Dothideomycetes, belonging to three morphologically similar genera. This group could not be accommodated in any known family and are thus classified in the new family Valsariaceae and the new order Valsariales. The genus Valsaria sensu stricto comprises V. insitiva, V. robiniae, V. rudis, V. spartii, V. lopadostomoides sp. nov. and V. neotropica sp. nov., which are phylogenetically well-defined, but morphologically nearly indistinguishable species. The new monotypic genus Bambusaria is introduced to accommodate Valsaria bambusae. Munkovalsaria rubra and Valsaria fulvopruinata are combined in Myrmaecium, a genus traditionally treated as a synonym of Valsaria, which comprises three species, with M. rubricosum as its generic type. This work is presented as a basis for additional species to be detected in future. PMID:27274717

Underlying mathematics in diversification of human olfactory receptors in different loci.

PubMed

Hassan, Sk Sarif; Choudhury, Pabitra Pal; Goswami, Arunava

2013-12-01

As per conservative estimate, approximately 51-105 Olfactory Receptors (ORs) loci are present in human genome occurring in clusters. These clusters are apparently unevenly spread as mosaics over 21 pairs of human chromosomes. Olfactory Receptor (OR) gene families which are thought to have expanded for the need to provide recognition capability for a huge number of pure and complex odorants, form the largest known multigene family in the human genome. Recent studies have shown that 388 full length and 414 OR pseudo-genes are present in these OR genomic clusters. In this paper, the authors report a classification method for all human ORs based on their sequential quantitative information like presence of poly strings of nucleotides bases, long range correlation and so on. An L-System generated sequence has been taken as an input into a star-model of specific subfamily members and resultant sequence has been mapped to a specific OR based on the classification scheme using fractal parameters like Hurst exponent and fractal dimensions.

Genomes of Stigonematalean cyanobacteria (subsection V) and the evolution of oxygenic photosynthesis from prokaryotes to plastids.

PubMed

Dagan, Tal; Roettger, Mayo; Stucken, Karina; Landan, Giddy; Koch, Robin; Major, Peter; Gould, Sven B; Goremykin, Vadim V; Rippka, Rosmarie; Tandeau de Marsac, Nicole; Gugger, Muriel; Lockhart, Peter J; Allen, John F; Brune, Iris; Maus, Irena; Pühler, Alfred; Martin, William F

2013-01-01

Cyanobacteria forged two major evolutionary transitions with the invention of oxygenic photosynthesis and the bestowal of photosynthetic lifestyle upon eukaryotes through endosymbiosis. Information germane to understanding those transitions is imprinted in cyanobacterial genomes, but deciphering it is complicated by lateral gene transfer (LGT). Here, we report genome sequences for the morphologically most complex true-branching cyanobacteria, and for Scytonema hofmanni PCC 7110, which with 12,356 proteins is the most gene-rich prokaryote currently known. We investigated components of cyanobacterial evolution that have been vertically inherited, horizontally transferred, and donated to eukaryotes at plastid origin. The vertical component indicates a freshwater origin for water-splitting photosynthesis. Networks of the horizontal component reveal that 60% of cyanobacterial gene families have been affected by LGT. Plant nuclear genes acquired from cyanobacteria define a lower bound frequency of 611 multigene families that, in turn, specify diazotrophic cyanobacterial lineages as having a gene collection most similar to that possessed by the plastid ancestor.

Liminality and low-income aging families by choice: meanings of family and support.

PubMed

McDaniel, Susan; Gazso, Amber

2014-12-01

Through the lens of individualization, aging families demonstrate changes both in family composition and in meanings of family and support. So, also, do low-income families that - in order to survive - choose flexible, sometimes novel, social-support relations, including kin and non-kin: these are aging families by choice. Applying the concept of liminality (transitional states of being) created through individualization, we explored the experiences of close relations in low-income families consisting of aging kin and non-kin members. Qualitative interviews with respondents representing two or three generations of aging families of choice illustrated how these families perceive the meanings of family and social support. We find that reciprocity is less vital to relationships of older with younger members in familial networks than may be expected. Liminality contours meanings and exchanges in low-income aging families of choice such that no matter how tenuous relations may be, they provide a sense of belonging and meaning.

Family therapy and fundamentalism: One family therapist's exploration of ethics and collaboration with religious fundamentalist families.

PubMed

Sherbersky, Hannah

2016-07-01

What are the therapeutic limitations of systemic psychotherapy when working with families who hold religious fundamentalist beliefs? At a time of debate about religious fundamentalism, terrorism and radicalisation, where do family therapists position themselves when confronted by extreme beliefs in the therapy room? Research suggests that the increase in modernity within our society equates not just with an increase in secularisation, but rather an increase in pluralism. Contemporary models of family therapy pay explicit attention to issues of gender, culture, ethnicity, discrimination and societal contexts. The author, therefore, proposes that family therapists need to examine their position regarding religious fundamentalism in relation to the social constructionist relativist continuum and engage with uncomfortable questions about whether they believe that fundamentalism has essentially pathological roots. This article will explore whether the dualist position within some religious movements set against a more secular psychotherapeutic and psychiatric cultural milieu can invite a fundamentalised response from clinicians. The author draws on her own work with families who hold religious fundamentalist beliefs and enquires about ethics, transparency and collaboration within family therapy practice. This article invites complex ongoing challenging questions and debate. © The Author(s) 2015.

Familial HCG syndrome.

PubMed

Cole, Laurence A

2012-01-01

An explanation is needed for why some men and women show positive in hCG screening tests when they are not pregnant, do not have cancer and are otherwise asymptomatic. In this study, a total of 10 families comprising 30 persons with a history of positive hCG tests were investigated. Total hCG was measured in serum and urine samples using the Siemens Immulite hCG test. Total hCG, C-terminal peptide determinant, and hCGβ were measured in 96 well plate assays. Twenty-four of 30 family members produced only hCGβ, and hCG or hCGβ missing the β-subunit C-terminal peptide, two rarely detected hCG degradation products as the only source of hCG immunoreactivity. In every one of the 10 families, hCG related molecules were detected first in one member and then later detected in other family members. In 8 of 10 families, all members produced comparable hCG concentration (Cases 1-8). All of the 10 original family members investigated were otherwise asymptomatic, and tested negative in ordered head and pelvis MRI scans and CT chest cancer tests. None had been administered hCG for dietary, anabolic or fertility reasons. Therefore Familial hCG Syndrome, a genetic defect, was indicated in each of the 10 families. In these cases of Familial hCG Syndrome only biologically inactive variants of hCG were detected. It is inferred that in Familial hCG Syndrome, hCG gene expression does not interfere with fertility. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

The Family Relationships Grid: Measuring Family Structure.

ERIC Educational Resources Information Center

Copeland, Anne P.; And Others

This study examined the Family Relationships Grid (FRG), a new measure of family structure that evaluates alliances, identification, isolation, and the relative strength of sibling and marital relationships. Subjects were 52 female and 35 male adolescents who were recruited through a university course and who each had at least one sibling.…

Development and testing of the Survey of Family Environment (SFE): a novel instrument to measure family functioning and needs for family support.

PubMed

Hohashi, Naohiro; Honda, Junko

2012-01-01

Hohashi's Concentric Sphere Family Environment Model (CSFEM; Hohashi & Honda, 2011) is a newly proposed family nursing theory for holistically understanding the family environment that acts on family well-being. The purpose of this article is to develop and psychometrically test the Japanese version of the Survey of Family Environment (SFE-J), grounded in the CSFEM, for measuring family's perceived family functioning and family's perceived needs for family support. The SFE-J is a 30-item self-administered instrument that assesses five domains (suprasystem, macrosystem, microsystem, family internal environment system, and chronosystem) and has been subjected to rigorous reliability and validity investigations among paired partners in child-rearing families (N of family = 1,990). Internal consistency reliability was high as measured by Cronbach's alpha coefficients. Temporal stability over a 2-week interval was supported by high (substantial or perfect) and significant intraclass correlation coefficients. The total score for the SFE-J was significantly correlated with the Japanese version of the Feetham Family Functioning Survey (FFFS-J), indicating an acceptable concurrent validity. Construct validity was supported by a confirmatory factor analysis that evaluated the five-factor structure to measure the concept of CSFEM. Results also demonstrate that the SFE-J family functioning scores show no significant differences between paired partners. The SFE-J is a reliable and valid instrument to assess not only intrafamily functioning but also interfamily functioning and, by identifying items/domains with high requirements for family support, serves to facilitate the providing of appropriate support to families.

Sampling strategies for improving tree accuracy and phylogenetic analyses: a case study in ciliate protists, with notes on the genus Paramecium.

PubMed

Yi, Zhenzhen; Strüder-Kypke, Michaela; Hu, Xiaozhong; Lin, Xiaofeng; Song, Weibo

2014-02-01

In order to assess how dataset-selection for multi-gene analyses affects the accuracy of inferred phylogenetic trees in ciliates, we chose five genes and the genus Paramecium, one of the most widely used model protist genera, and compared tree topologies of the single- and multi-gene analyses. Our empirical study shows that: (1) Using multiple genes improves phylogenetic accuracy, even when their one-gene topologies are in conflict with each other. (2) The impact of missing data on phylogenetic accuracy is ambiguous: resolution power and topological similarity, but not number of represented taxa, are the most important criteria of a dataset for inclusion in concatenated analyses. (3) As an example, we tested the three classification models of the genus Paramecium with a multi-gene based approach, and only the monophyly of the subgenus Paramecium is supported. Copyright © 2013 Elsevier Inc. All rights reserved.

Family size, cognitive outcomes, and familial interaction in stable, two-parent families: United States, 1997-2002.

PubMed

Sandberg, John; Rafail, Patrick

2014-10-01

Measures of children's time use, particularly with parents and siblings, are used to evaluate three hypotheses in relation to the vocabulary and mathematical skills development: (1) the resource dilution hypothesis, which argues that parental and household resources are diluted in larger families; (2) the confluence hypothesis, which suggests that the intellectual milieu of families is lowered with additional children; and (3) the admixture ("no effect") hypothesis, which suggests that the negative relationship between family size and achievement is an artifact of cross-sectional research resulting from unobserved heterogeneity. Each hypothesis is tested using within-child estimates of change in cognitive scores over time with the addition of new children to families.

Three Generation Family Households: Differences by Family Structure at Birth

PubMed Central

Pilkauskas, Natasha V.

2013-01-01

Using data from the Fragile Families and Child Well-being Study (N=4,898), this study investigates how the share, correlates, transition patterns, and duration of three generation households vary by mother’s relationship status at birth. Nine percent of married mothers, 17 % of cohabiting, and 45% of single mothers live in a three generation family household at the birth of the child. Incidence over time is much higher and most common among single mother households, 60% live in a three generation family household in at least one wave. Economic need, culture, and generational needs are associated with living in a three generation household and correlates vary by mother’s relationship status. Three generation family households are short lived and transitions are frequent. Kin support through coresidence is an important source of support for families with young children and in particular families that are unwed at the birth of their child. PMID:24014117

Family Smoking, Exposure to Secondhand Smoke at Home and Family Unhappiness in Children

PubMed Central

Chen, Jian Jiu; Ho, Sai Yin; Au, Wing Man; Wang, Man Ping; Lam, Tai Hing

2015-01-01

Tobacco use adversely affects many aspects of well-being and is disliked by non-smokers. However, its association with family happiness is unknown. We investigated the associations of family unhappiness with smoking in family members and secondhand smoke (SHS) exposure at home in Hong Kong children. In a school-based survey in 2012–2013, 1238 primary school students (mean age 8.5 years, standard deviation 0.9; 42.6% boys) reported family smoking, SHS exposure at home and whether their families had any unpleasant experience caused by smoking or SHS in the past 30 days (tobacco-related unpleasant experience), and rated the overall level of happiness in their families (family unhappiness). Multivariable logistic regression was used to study the associations of tobacco-related unpleasant experience and family unhappiness with family smoking and SHS exposure at home. Tobacco-related unpleasant experience and family unhappiness were reported by 27.5% and 16.5% of students. Unpleasant experience was more strongly associated with family smoking than SHS exposure at home. Family unhappiness was associated with both family smoking (odds ratio 2.37; 95% confidence interval 1.51–3.71) and SHS exposure at home (1.82; 1.39–2.40). These results suggest a previously neglected possible impact of tobacco use on family happiness. PMID:26580642

Family structure and income inequality in families with children, 1976 to 2000.

PubMed

Martin, Molly A

2006-08-01

Using 24 years of data from the March supplements to the Current Population Survey and detailed categories of family structure, including cohabiting unions, I assess the contribution of changes in family structure to the dramatic rise in family income inequality. Between 1976 and 2000, family structure shifts explain 41% of the increase in inequality, but the influence of family structure change is not uniform within this period or across racial-ethnic groups. In general, the estimated role of family structure change is inversely related to the magnitude of the changes in inequality. Furthermore, by including cohabitation, I find lower levels of total inequality and a weaker role for demographic shifts in family structure for trends in income inequality.

Familial Pulmonary Fibrosis

MedlinePlus

... called Familial Pulmonary Fibrosis (FPF) or Familial Interstitial Pneumonia (FIP). The most common definition of FPF is two or more primary biological family members (parent, child, or sibling) with the diagnosis of IPF or ...

The role of family institutes in promoting the practice of family therapy.

PubMed

Rampage, Cheryl

2014-09-01

Much of the development of family therapy as a discipline was an outcome of the clinical, training, and theory-building activities conducted at family institutes around the United States. Beginning in the 1960s, these institutes were the crucibles in which the concepts and practices of family therapy flourished. The author, a leader at one of the largest family institutes in the United States, discusses the role of family institutes in promoting the practice of family therapy, as well as the challenges of doing so. © 2014 FPI, Inc.

The Context of Collecting Family Health History: Examining Definitions of Family and Family Communication About Health Among African American Women

PubMed Central

THOMPSON, TESS; SEO, JOANN; GRIFFITH, JULIA; BAXTER, MELANIE; JAMES, AIMEE; KAPHINGST, KIMBERLY A.

2015-01-01

Public health initiatives encourage the public to discuss and record family health history (FHH) information, which can inform prevention and screening for a variety of conditions. Most research on FHH discussion and collection, however, has involved predominantly White participants and has not considered lay definitions of family or family communication patterns about health. This qualitative study of 32 African American women, 16 with a history of cancer, analyzed participants’ definitions of family, family communication about health, and collection of FHH information. “Family” was defined by biological relatedness, social ties, interactions, and proximity. Several participants noted using different definitions of family for different purposes (e.g. biomedical vs. social). Health discussions took place between and within generations and were influenced by structural relationships (e.g. sister) and characteristics of family members (e.g. trustworthiness). Participants described managing tensions between sharing health information and protecting privacy, especially related to generational differences in sharing information, fear of familial conflict or gossip, and denial (sometimes described as refusal to “own” or “claim” a disease). Few participants reported that anyone in their family kept formal FHH records. Results suggest FHH initiatives should address family tensions and communication patterns that affect discussion and collection of FHH information. PMID:25730634

A Community-Based Intervention Program to Enhance Family Communication and Family Well-being: The Learning Families Project in Hong Kong.

PubMed

Shen, Chen; Wan, Alice; Kwok, Lit Tung; Pang, Sally; Wang, Xin; Stewart, Sunita M; Lam, Tai Hing; Chan, Sophia Siu Chee

2017-01-01

Family communication is important to maintain family relationships and family well-being. To enhance family communication and family well-being, a community-based "Learning Families Project," based on the social ecological model was developed in Kwun Tong in Hong Kong, a district with high prevalence of family problems. This quasi-experimental study included two nearby government subsidized low-rent housing estates separated by busy main roads, as the intervention [Tsui Ping (South) Estate] and control (Shun Tin Estate) estate. The main intervention was resident training programs, such as talks, day camps, and thematic activities. No program was implemented in the control estate. Participants in the intervention group received assessments before the intervention (T1), immediately after the intervention (T2), and 6 weeks after the intervention (T3). Control group participants were assessed at baseline (March to April 2011) and follow-up (December 2011 to March 2012). Assessments of family communication (time and perceived adequacy) and family well-being (harmony, happiness, and health) at T1 and T3 were obtained in the intervention group to examine within-group changes. In addition, these differences in outcomes in the intervention group were compared with those in the control group to examine the effectiveness of the intervention. Family communication time and perceived communication adequacy increased significantly in the intervention group ( n  = 515) with a small effect size (Cohen effect d : 0.10 and 0.24, respectively). Compared with the control group ( n  = 476), the improvements in family communication time and perceived communication adequacy (Cohen effect d : 0.13 and 0.14, respectively), and perceived family harmony and happiness (Cohen effect d : 0.12 and 0.12, respectively) were significantly greater in the intervention group, adjusting for age and education, suggesting the intervention was effective in improving family communication and

Familial gigantism

PubMed Central

de Herder, Wouter W.

2012-01-01

Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas. PMID:22584702

Efficacy of family mediation and the role of family violence: study protocol.

PubMed

Cleak, Helen; Schofield, Margot; Bickerdike, Andrew

2014-01-21

Family law reforms in Australia require separated parents in dispute to attempt mandatory family dispute resolution (FDR) in community-based family services before court attendance. However, there are concerns about such services when clients present with a history of high conflict and family violence. This study protocol describes a longitudinal study of couples presenting for family mediation services. The study aims to describe the profile of family mediation clients, including type of family violence, and determine the impact of violence profiles on FDR processes and outcomes, such as the type and durability of shared parenting arrangements and clients' satisfaction with mediated agreements. A mixed method, naturalistic longitudinal design is used. The sampling frame is clients presenting at nine family mediation centres across metropolitan, outer suburban, and regional/rural sites in Victoria, Australia. Data are collected at pre-test, completion of mediation, and six months later. Self-administered surveys are administered at the three time points, and a telephone interview at the final post-test. The key study variable is family violence. Key outcome measures are changes in the type and level of acrimony and violent behaviours, the relationship between violence and mediated agreements, the durability of agreements over six months, and client satisfaction with mediation. Family violence is a major risk to the physical and mental health of women and children. This study will inform debates about the role of family violence and how to manage it in the family mediation context. It will also inform decision-making about mediation practices by better understanding how mediation impacts on parenting agreements, and the implications for children, especially in the context of family violence.

Efficacy of family mediation and the role of family violence: study protocol

PubMed Central

2014-01-01

Background Family law reforms in Australia require separated parents in dispute to attempt mandatory family dispute resolution (FDR) in community-based family services before court attendance. However, there are concerns about such services when clients present with a history of high conflict and family violence. This study protocol describes a longitudinal study of couples presenting for family mediation services. The study aims to describe the profile of family mediation clients, including type of family violence, and determine the impact of violence profiles on FDR processes and outcomes, such as the type and durability of shared parenting arrangements and clients’ satisfaction with mediated agreements. Methods A mixed method, naturalistic longitudinal design is used. The sampling frame is clients presenting at nine family mediation centres across metropolitan, outer suburban, and regional/rural sites in Victoria, Australia. Data are collected at pre-test, completion of mediation, and six months later. Self-administered surveys are administered at the three time points, and a telephone interview at the final post-test. The key study variable is family violence. Key outcome measures are changes in the type and level of acrimony and violent behaviours, the relationship between violence and mediated agreements, the durability of agreements over six months, and client satisfaction with mediation. Discussion Family violence is a major risk to the physical and mental health of women and children. This study will inform debates about the role of family violence and how to manage it in the family mediation context. It will also inform decision-making about mediation practices by better understanding how mediation impacts on parenting agreements, and the implications for children, especially in the context of family violence. PMID:24443936

'You put it all together' - families' evaluation of participating in Family Health Conversations.

PubMed

Benzein, Eva; Olin, Cecilia; Persson, Carina

2015-03-01

To evaluate the Family Health Conversations from the perspective of families living with chronic illness. This study has a descriptive qualitative design using semi-structured evaluative family interviews and conventional content analysis. The study was approved by a Regional Ethical Review Board. Family Health Conversations were used as an intervention with 14 families living with chronic illness. The outcome measures consisted of evaluative family interviews. Families' experiences of the conversations embraced their structure and the interactions with the conversation leaders. All families were satisfied with the conversations, pointing to the importance of having them early in the illness process. The opportunity to talk with someone outside the family was strongly emphasised as promoting well-being. The experienced significance of the conversations was captured in four categories: creating a whole picture, that is, being given the opportunity to listen to other family members' experiences and fill in potential memory gaps; making the situation manageable, that is, receiving support from other participants in order to handle problems and gain control; facilitating healing, that is, being able to tell their story about what had previously been 'the unspeakable'; and strengthened family cohesion, that is, increased understanding for each other's experiences, thus bringing family members closer together. Most families were partners, which could possibly limit transferability of the findings to families constituted by couples. Family Health Conversations should be offered as a part of standard care shortly after diagnosis and at various transitions in life. © 2014 Nordic College of Caring Science.

Using a family systems approach to investigate cancer risk communication within melanoma families.

PubMed

Harris, Julie N; Hay, Jennifer; Kuniyuki, Alan; Asgari, Maryam M; Press, Nancy; Bowen, Deborah J

2010-10-01

The family provides an important communication nexus for information and support exchange about family cancer history, and adoption of family-wide cancer risk reduction strategies. The goals of this study were to (1) use the family systems theory to identify characteristics of this sample of families at increased risk of developing melanoma and (2) to relate familial characteristics to the frequency and style of familial risk communication. Participants were first-degree relatives (n=313) of melanoma patients, recruited into a family web-based intervention study. We used multivariable logistic regression models to analyze the association between family functioning and family communication. Most participants were female (60%), with an average age of 51 years. Fifty percent of participants reported that they spoke to their relatives about melanoma risk and people were more likely to speak to their female family members. Familial adaptation, cohesion, coping, and health beliefs were strongly associated with an open style of risk communication within families. None were associated with a blocked style of risk communication. Only cohesion and adaptation were associated with the amount of risk communication that occurred within families. Overall, individuals who came from families that were more highly cohesive, adaptable, and shared strong beliefs about melanoma risk were more likely to communicate openly about melanoma. The fact that this association was not consistent across blocked communication and communication frequency highlights the multifaceted nature of this process. Future research should focus on the interplay between different facets of communication. Copyright © 2010 John Wiley & Sons, Ltd.

The ideology of small family.

PubMed

Lakshminarayana, H D

1991-01-01

Data are obtained and analyzed from 4232 rural families of handloom weavers in Karnataka state, India. 60.20% families are small families with 6 or fewer family members, of whom 25% have 3 members. 96.78% of small families have only one occupation. 30.50% of large families and 12.42% of medium sized families have more than one occupation. About 74% of families have income under the poverty line (under Rs 3500/year). 83% of small families are under the poverty line. The dependency ratio of small families is 1:2. 33% of all dependents are found among small families which are below the poverty line. 82% of dependents in small families are in small families under the poverty line. Almost 50% of dependents belong to small families. Small families are found to have slightly lower levels of education, although average level of education is very similar regardless of family size. The findings are used as evidence that small families do not necessarily augment the economy and that economic, educational, and cultural thresholds may be necessary before small family size affects economic development and improves the general well-being of family members. The social system that the small family is operating in is considered an important factor affecting the quality of life of the family.

A Model of Family Background, Family Process, Youth Self-Control, and Delinquent Behavior in Two-Parent Families

ERIC Educational Resources Information Center

Jeong, So-Hee; Eamon, Mary Keegan

2009-01-01

Using data from a national sample of two-parent families with 11- and 12-year-old youths (N = 591), we tested a structural model of family background, family process (marital conflict and parenting), youth self-control, and delinquency four years later. Consistent with the conceptual model, marital conflict and youth self-control are directly…

Parental experience of family resources in single-parent families having a child with cancer.

PubMed

Huang, I-Chen; Mu, Pei-Fan; Chiou, Tzeon-Jye

2008-10-01

The purpose of this study was to explore the essence of family experiences in terms of family resources and how these assist a single-parent caring for a child with cancer. When families face stresses caused by cancer, they need to readjust their roles, interactive patterns and relationships, both inside and outside the family. During the adaptation process, family resources may assist recovery from stress and a return to equilibrium. Most research has emphasised the support resources available to two-parent families during the treatment process. There is a lack of information on the experiences of single-parent families and their available resources together with the functions and roles played by family resources during the adjustment process. Qualitative. Five major themes were identified: (i) facing the disease with courage; (ii) hope kindled by professionals; (iii) constructing parental role ability; (iv) assisting the children to live with the illness; and (v) family flexibility. The results of the current study demonstrate that single-parent families with a child suffering from cancer employ family resources to assist family adjustment and to maintain family function/equilibrium. These results explain the dynamic interactions between the multiple levels of resources available to the family. The study results provide evidence-based information that identifies the nature of family resources in single-parent families and describes how these resources can be applied to assist the families.

Which family--what therapy: Maori culture, families and family therapy in New Zealand.

PubMed

Kumar, Shailesh; Dean, Peter; Smith, Barry; Mellsop, Graham W

2012-04-01

New Zealand is a relatively young and small country which has seen steady migration for nearly seven centuries. Despite a long history of rivalry and hostility between Maori and European values, the country has also seen some significant synergism between the two cultures. For the last three decades Asians have also migrated at a significant pace. The country faces the challenge of delivering quality mental health services to such cultures which are bifurcated in being socio-centric (Maori, Pacific Islanders and Asian total 32% combined) or ego-centric (European total 68%). Significant progress has been made in including families of the mentally ill in their treatment and care planning. Legislative requirements have been introduced for the family to be consulted in the treatment of those who are being compelled to receive psychiatric care under the Mental Health Act. Models of family therapy developed through innovation meeting the unique local needs or adaptation of existing models from overseas are being used. An overview of such family therapy modalities is presented.

Development and Examination of a Family Triadic Measure to Examine Quality of Life Family Congruence in Nursing Home Residents and Two Family Members.

PubMed

Aalgaard Kelly, Gina

2015-01-01

Objective: The overall purpose of this study was to propose and test a conceptual model and apply family analyses methods to understand quality of life family congruence in the nursing home setting. Method: Secondary data for this study were from a larger study, titled Measurement, Indicators and Improvement of the Quality of Life (QOL) in Nursing Homes . Research literature, family systems theory and human ecological assumptions, fostered the conceptual model empirically testing quality of life family congruence. Results: The study results supported a model examining nursing home residents and two family members on quality of life family congruence. Specifically, family intergenerational dynamic factors, resident personal and social-psychological factors, and nursing home family input factors were examined to identify differences in quality of life family congruence among triad families. Discussion: Formal family involvement and resident cognitive functioning were found as the two most influential factors to quality of life family congruence (QOLFC).

Development and Examination of a Family Triadic Measure to Examine Quality of Life Family Congruence in Nursing Home Residents and Two Family Members

PubMed Central

Aalgaard Kelly, Gina

2015-01-01

Objective: The overall purpose of this study was to propose and test a conceptual model and apply family analyses methods to understand quality of life family congruence in the nursing home setting. Method: Secondary data for this study were from a larger study, titled Measurement, Indicators and Improvement of the Quality of Life (QOL) in Nursing Homes. Research literature, family systems theory and human ecological assumptions, fostered the conceptual model empirically testing quality of life family congruence. Results: The study results supported a model examining nursing home residents and two family members on quality of life family congruence. Specifically, family intergenerational dynamic factors, resident personal and social-psychological factors, and nursing home family input factors were examined to identify differences in quality of life family congruence among triad families. Discussion: Formal family involvement and resident cognitive functioning were found as the two most influential factors to quality of life family congruence (QOLFC). PMID:28138474

Acculturation-Based and Everyday Family Conflict in Chinese American Families

PubMed Central

Juang, Linda P.; Syed, Moin; Cookston, Jeffrey T.; Wang, Yijie; Kim, Su Yeong

2016-01-01

Everyday conflict (studied primarily among European American families) is viewed as an assertion of autonomy from parents that is normative during adolescence. Acculturation-based conflict (studied primarily among Asian-and Latino-heritage families) is viewed as a threat to relatedness with parents rather than the normative assertion of autonomy. Our overarching goal for the chapter is to integrate our knowledge of these two types of family conflict that have been studied separately to arrive at a new understanding of what family conflict means for Chinese American adolescents and their parents. PMID:22407880

Uniqueness of family therapists as family business systems consultants: a cross-disciplinary investigation.

PubMed

Lee, Jinhee; Danes, Sharon M

2012-06-01

The purpose of this study is to address how the consulting approaches of family therapists working with family businesses differ from those of business consultants. The logic of analytic induction was used to analyze qualitative data from family business consultants with and without training in family therapy. Consultants were asked to respond to two vignettes: one emphasized primarily family system problems, whereas the other emphasized business problems with influencing issues at the family/business intersection. Both similarities and differences were found in reference to problem assessment, consulting goal orientation, intervention strategy focus, consultant role and function, and consulting setting preference between consultants with and without family therapy training. Results indicate that consultants of each discipline provide a unique perspective and expertise that allow them to successfully address the spectrum of issues that family firms face. Further, findings highlight the unique contribution of family therapists to an interdisciplinary consulting team. © 2012 American Association for Marriage and Family Therapy.

Worker, workplace or families: What influences family focused practices in adult mental health?

PubMed

Maybery, D; Goodyear, M; Reupert, A E; Grant, A

2016-04-01

WHAT IS KNOWN ON THE SUBJECT?: Family focused practice leads to positive outcomes for parents and children. There are barriers and enablers for practitioners being family focused. WHAT THIS PAPER ADDS TO EXISTING KNOWLEDGE?: Worker skill, knowledge and confidence about family work are the most important factors associated with family focused practices. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Mental health nurses require specific skill training in family focused practices, time to engage with clients on parenting issues and that there are adequate services to refer family members to. Introduction Family focused practice is thought to lead to positive outcomes for all family members. However, there are multiple barriers and enablers in adult mental health services to practitioners undertaking these actions. Aim The aim of this study was to examine the relative importance of worker, workforce and family factors to predict family focused practices (FFPs) in adult mental health services. Method Three hundred and seven adult mental health workers completed a 45 items family focused practice measure of 16 family focused practices. Thesis It was found that worker skill and knowledge about family work and an ability to assess the degree of parental insight into the child's connections to other family members and the community were important predictors of FFP, along with the closely related-worker confidence. While aspects of the worker, workplace and family each contribute to FFPs, this study highlighted the importance of worker skill, knowledge and confidence as central issues for adult mental health workers. Implications for practice Study implications include the need for training in specific FFPs, the provision of time to engage with clients on parenting issues and the need 5 to ensure that there are adequate services for workers to refer family members to. © 2016 John Wiley & Sons Ltd.