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1

Taxonomic revision of Harveyi clade bacteria (family Vibrionaceae) based on analysis of whole genome sequences.  

PubMed

Use of inadequate methods for classification of bacteria in the so-called Harveyi clade (family Vibrionaceae, Gammaproteobacteria) has led to incorrect assignment of strains and proliferation of synonymous species. In order to resolve taxonomic ambiguities within the Harveyi clade and to test usefulness of whole genome sequence data for classification of Vibrionaceae, draft genome sequences of 12 strains were determined and analysed. The sequencing included type strains of seven species: Vibrio sagamiensis NBRC 104589(T), Vibrio azureus NBRC 104587(T), Vibrio harveyi NBRC 15634(T), Vibrio rotiferianus LMG 21460(T), Vibrio campbellii NBRC 15631(T), Vibrio jasicida LMG 25398(T), and Vibrio owensii LMG 25443(T). Draft genome sequences of strain LMG 25430, previously designated the type strain of [Vibrio communis], and two strains (MWB 21 and 090810c) from the 'beijerinckii' lineage were also determined. Whole genomes of two additional strains (ATCC 25919 and 200612B) that previously could not be assigned to any Harveyi clade species were also sequenced. Analysis of the genome sequence data revealed a clear case of synonymy between V. owensii and [V. communis], confirming an earlier proposal to synonymize both species. Both strains from the 'beijerinckii' lineage were classified as V. jasicida, while the strains ATCC 25919 and 200612B were classified as V. owensii and V. campbellii, respectively. We also found that two strains, AND4 and Ex25, are closely related to Harveyi clade bacteria, but could not be assigned to any species of the family Vibrionaceae. The use of whole genome sequence data for the taxonomic classification of the Harveyi clade bacteria and other members of the family Vibrionaceae is also discussed. PMID:23710045

Urbanczyk, Henryk; Ogura, Yoshitoshi; Hayashi, Tetsuya

2013-07-01

2

Development of a Simple and Rapid Fluorogenic Procedure for Identification of Vibrionaceae Family Members  

PubMed Central

We describe a simple colony overlay procedure for peptidases (COPP) for the rapid fluorogenic detection and quantification of Vibrionaceae from seawater, shellfish, sewage, and clinical samples. The assay detects phosphoglucose isomerase with a lysyl aminopeptidase activity that is produced by Vibrionaceae family members. Overnight cultures are overlaid for 10 min with membranes containing a synthetic substrate, and the membranes are examined for fluorescent foci under UV illumination. Fluorescent foci were produced by all the Vibrionaceae tested, including Vibrio spp., Aeromonas spp., and Plesiomonas spp. Fluorescence was not produced by non-Vibrionaceae pathogens. Vibrio cholerae strains O1, O139, O22, and O155 were strongly positive. Seawater and oysters were assayed, and 87 of 93 (93.5%) of the positive isolates were identified biochemically as Vibrionaceae, principally Vibrio vulnificus, Vibrio parahaemolyticus, Aeromonas hydrophila, Photobacterium damselae, and Shewanella putrefaciens. None of 50 nonfluorescent isolates were Vibrionaceae. No Vibrionaceae were detected in soil, and only A. hydrophila was detected in sewage. The COPP technique may be particularly valuable in environmental and food-testing laboratories and for monitoring water quality in the aquaculture industry.

Richards, Gary P.; Watson, Michael A.; Parveen, Salina

2005-01-01

3

Development of a simple and rapid fluorogenic procedure for identification of vibrionaceae family members.  

PubMed

We describe a simple colony overlay procedure for peptidases (COPP) for the rapid fluorogenic detection and quantification of Vibrionaceae from seawater, shellfish, sewage, and clinical samples. The assay detects phosphoglucose isomerase with a lysyl aminopeptidase activity that is produced by Vibrionaceae family members. Overnight cultures are overlaid for 10 min with membranes containing a synthetic substrate, and the membranes are examined for fluorescent foci under UV illumination. Fluorescent foci were produced by all the Vibrionaceae tested, including Vibrio spp., Aeromonas spp., and Plesiomonas spp. Fluorescence was not produced by non-Vibrionaceae pathogens. Vibrio cholerae strains O1, O139, O22, and O155 were strongly positive. Seawater and oysters were assayed, and 87 of 93 (93.5%) of the positive isolates were identified biochemically as Vibrionaceae, principally Vibrio vulnificus, Vibrio parahaemolyticus, Aeromonas hydrophila, Photobacterium damselae, and Shewanella putrefaciens. None of 50 nonfluorescent isolates were Vibrionaceae. No Vibrionaceae were detected in soil, and only A. hydrophila was detected in sewage. The COPP technique may be particularly valuable in environmental and food-testing laboratories and for monitoring water quality in the aquaculture industry. PMID:16000757

Richards, Gary P; Watson, Michael A; Parveen, Salina

2005-07-01

4

[The cellular fatty acid composition of bacteria in the family Vibrionaceae].  

PubMed

It is shown that strains of Vibrio cholerae of serovar O1, biovar eltor, subtype Ogawa, museum strains V. cholerae of serovar O1 and NAG-vibrios (isolated from various sources: sea, river and sewage water, canal water and people) possess identical composition of cell fatty acids with prevailing hexadecenoic, hexadecanoic and octadecenoic acids. Being identical, fatty acid profiles of V. parahaemolyticus and V. alginolyticus, are close to that of V. cholerae differing from the latter mainly by the higher content of dodecanoic acid. Similarity of Aeromonas sp. and Vibrio strains in the fatty acid composition proves phylogenetic relation-ship of these bacteria. Fatty acid composition of Plesiomonas shigelloides cells characterized by the presence of methylenhexadecanoic acid as well as by similarity with Vibrio and Aeromonas by the content of most fatty acids confirms a supposition of R. R. Colwell on the intermediate status of genus Plesiomonas between the families Enterobacteriaceae and Vibrionaceae. Independent of the growth medium, the strains Vibrio. Aeromonas and Plesiomonas preserved a fatty-acid profile, inherent in them, with variations mainly in the content of fatty acids with the odd number of carbon atoms. Allowing for relative stability of fatty acid composition and its peculiarity in certain taxonomic groups of the studied bacteria, the above test may be used as additional objective criterion to identify the representatives of Vibrionaceae family. PMID:9044701

Vasiurenko, Z P; Padchenko, A G; Ruban, N M; Alekseenko, V V; Dobroshtan, E V; Gurleva, G G; Opanasenko, I S

1996-01-01

5

Criteria for revealing family secrets  

Microsoft Academic Search

Because revealing family secrets can have substantial influences on individuals and their interpersonal relationships, the criteria people use when they consider whether to divulge a family secret are quite important. The current study was conducted to explore these criteria and to examine the factors that encourage people to employ some criteria as opposed to others. In the first stage of

Anita Vangelisti; John Caughlin; Lindsay Timmerman

2001-01-01

6

A survey for phosphoglucose isomerase with lysyl aminopeptidase activity in Vibrionaceae and non-Vibrio pathogens.  

PubMed

Phosphoglucose isomerase (PGI) with a novel lysyl aminopeptidase (LysAP) activity was recently purified and characterized from Vibrio vulnificus. We showed that it cleaves the amino-terminal lysyl residue from des-Arg(10)-kallidin to produce des-Arg(9)-bradykinin, suggesting that it plays a role in virulence. A survey was conducted to determine the presence of this potential virulence-enhancing enzyme among twenty-three halotolerant human and fish pathogens from eleven species within the Vibrionaceae family, including V. vulnificus, V. parahaemolyticus, V. cholerae, Aeromonas hydrophila, and Plesiomonas shigelloides. In addition, fourteen species of non-Vibrionaceae pathogens were screened for LysAP activity. Cell lysates were partially purified by anion exchange chromatography and fractions were screened for LysAP and isomerase activities. PGI-LysAP activity was detected in chromatographic fractions from all the Vibrio species tested, but was not detected in any of the non-Vibrionaceae pathogens. Levels of isomerase and LysAP activity correlated (R(2)=0.92) for nine strains of V. vulnificus. Since the Vibrionaceae represent an important family of human and fish pathogens, our identification of PGI-LysAP activity in a broad array of vibrios may lead to the development of improved analytical methods for their identification as well as interventions to reduce the high morbidity and mortality associated with some Vibrionaceae infections in clinical, veterinary, and aquaculture settings. PMID:15752701

Richards, Gary P; Parveen, Salina

2005-04-15

7

Fluorogenic Membrane Overlays to Enumerate Total and Fecal Escherichia coli and Total Vibrionaceae in Shellfish and Seawater  

PubMed Central

Three assays were developed to enumerate total and fecal Escherichia coli and total Vibrionaceae in shellfish, seawater, and other foods and environmental samples. Assays involve membrane overlays of overnight colonies on nonselective agar plates to detect ?-glucuronidase and lysyl aminopeptidase activities for E. coli and Vibrionaceae, respectively. Cellulose membranes containing the substrates 4-methylumbeferyl-?-D-glucuronide (MUG) produced a bright blue fluorescence when overlaid onto E. coli, while L-lysyl-7-amino-4-trifluoromethylcoumarin produced green fluorescent foci when overlaid onto Vibrionaceae family members. A multiplex assay was also developed for simultaneously enumerating total E. coli and total Vibrionaceae in oysters and seawater. Overall, 65% of overlaid E. coli (non-O157:H7) were MUG-positive, compared with 62% as determined by the most-probable-number-MUG assay. The overlays are rapid, simple, and cost effective for quantification purposes. This research provides practical alternatives for monitoring bacterial indicators and potential pathogens in complex samples, including molluscan shellfish.

Richards, Gary P.; Watson, Michael A.

2010-01-01

8

Reproducibility of Vibrionaceae population structure in coastal bacterioplankton  

PubMed Central

How reproducibly microbial populations assemble in the wild remains poorly understood. Here, we assess evidence for ecological specialization and predictability of fine-scale population structure and habitat association in coastal ocean Vibrionaceae across years. We compare Vibrionaceae lifestyles in the bacterioplankton (combinations of free-living, particle, or zooplankton associations) measured using the same sampling scheme in 2006 and 2009 to assess whether the same groups show the same environmental association year after year. This reveals complex dynamics with populations falling primarily into two categories: (i) nearly equally represented in each of the two samplings and (ii) highly skewed, often to an extent that they appear exclusive to one or the other sampling times. Importantly, populations recovered at the same abundance in both samplings occupied highly similar habitats suggesting predictable and robust environmental association while skewed abundances of some populations may be triggered by shifts in ecological conditions. The latter is supported by difference in the composition of large eukaryotic plankton between years, with samples in 2006 being dominated by copepods, and those in 2009 by diatoms. Overall, the comparison supports highly predictable population-habitat linkage but highlights the fact that complex, and often unmeasured, environmental dynamics in habitat occurrence may have strong effects on population dynamics.

Szabo, Gitta; Preheim, Sarah P; Kauffman, Kathryn M; David, Lawrence A; Shapiro, Jesse; Alm, Eric J; Polz, Martin F

2013-01-01

9

Small RNAs in the Vibrionaceae: an ocean still to be explored.  

PubMed

In bacteria, the discovery of noncoding small RNAs (sRNAs) as modulators of gene expression in response to environmental signals has brought new insights into bacterial gene regulation, including control of pathogenicity. The Vibrionaceae constitute a family of marine bacteria of which many are responsible for infections affecting not only humans, such as Vibrio cholerae but also fish and marine invertebrates, representing the major cause of mortality in farmed marine species. They are able to colonize many habitats, existing as planktonic forms, in biofilms or associated with various hosts. This high adaptability is linked to their capacity to generate genetic diversity, in part through lateral gene transfer, but also by varying gene expression control. In the recent years, several major studies have illustrated the importance of small regulatory sRNAs in the Vibrionaceae for the control of pathogenicity and adaptation to environment and nutrient sources such as chitin, especially in V. cholerae and Vibrio harveyi. The existence of a complex regulatory network controlled by quorum sensing has been demonstrated in which sRNAs play central roles. This review covers major advances made in the discovery and elucidation of functions of Vibrionaceae sRNAs within the last 10?years. PMID:24458378

Nguyen, An Ngoc; Jacq, Annick

2014-01-01

10

Fluorogenic Membrane Overlays to Enumerate Total and Fecal Escherichia coli and Total Vibrionaceae in Shellfish and Seawater.  

PubMed

Three assays were developed to enumerate total and fecal Escherichia coli and total Vibrionaceae in shellfish, seawater, and other foods and environmental samples. Assays involve membrane overlays of overnight colonies on nonselective agar plates to detect beta-glucuronidase and lysyl aminopeptidase activities for E. coli and Vibrionaceae, respectively. Cellulose membranes containing the substrates 4-methylumbeferyl-beta-D-glucuronide (MUG) produced a bright blue fluorescence when overlaid onto E. coli, while L-lysyl-7-amino-4-trifluoromethylcoumarin produced green fluorescent foci when overlaid onto Vibrionaceae family members. A multiplex assay was also developed for simultaneously enumerating total E. coli and total Vibrionaceae in oysters and seawater. Overall, 65% of overlaid E. coli (non-O157:H7) were MUG-positive, compared with 62% as determined by the most-probable-number-MUG assay. The overlays are rapid, simple, and cost effective for quantification purposes. This research provides practical alternatives for monitoring bacterial indicators and potential pathogens in complex samples, including molluscan shellfish. PMID:20396663

Richards, Gary P; Watson, Michael A

2010-01-01

11

Production of Bioactive Secondary Metabolites by Marine Vibrionaceae  

PubMed Central

Bacteria belonging to the Vibrionaceae family are widespread in the marine environment. Today, 128 species of vibrios are known. Several of them are infamous for their pathogenicity or symbiotic relationships. Despite their ability to interact with eukaryotes, the vibrios are greatly underexplored for their ability to produce bioactive secondary metabolites and studies have been limited to only a few species. Most of the compounds isolated from vibrios so far are non-ribosomal peptides or hybrids thereof, with examples of N-containing compounds produced independent of nonribosomal peptide synthetases (NRPS). Though covering a limited chemical space, vibrios produce compounds with attractive biological activities, including antibacterial, anticancer, and antivirulence activities. This review highlights some of the most interesting structures from this group of bacteria. Many compounds found in vibrios have also been isolated from other distantly related bacteria. This cosmopolitan occurrence of metabolites indicates a high incidence of horizontal gene transfer, which raises interesting questions concerning the ecological function of some of these molecules. This account underlines the pending potential for exploring new bacterial sources of bioactive compounds and the challenges related to their investigation.

Mansson, Maria; Gram, Lone; Larsen, Thomas O.

2011-01-01

12

Targeting the Replication Initiator of the Second Vibrio Chromosome: Towards Generation of Vibrionaceae-Specific Antimicrobial Agents  

PubMed Central

The Vibrionaceae is comprised of numerous aquatic species and includes several human pathogens, such as Vibrio cholerae, the cause of cholera. All organisms in this family have two chromosomes, and replication of the smaller one depends on rctB, a gene that is restricted to the Vibrionaceae. Given the increasing prevalence of multi-drug resistance in pathogenic vibrios, there is a need for new targets and drugs to combat these pathogens. Here, we carried out a high throughput cell-based screen to find small molecule inhibitors of RctB. We identified a compound that blocked growth of an E. coli strain bearing an rctB-dependent plasmid but did not influence growth of E. coli lacking this plasmid. This compound, designated vibrepin, had potent cidal activity against V. cholerae and inhibited the growth of all vibrio species tested. Vibrepin blocked RctB oriCII unwinding, apparently by promoting formation of large non-functional RctB complexes. Although vibrepin also appears to have targets other than RctB, our findings suggest that RctB is an attractive target for generation of novel antibiotics that only block growth of vibrios. Vibrio-specific agents, unlike antibiotics currently used in clinical practice, will not engender resistance in the normal human flora or in non-vibrio environmental microorganisms.

Yamaichi, Yoshiharu; Duigou, Stephane; Shakhnovich, Elizabeth A.; Waldor, Matthew K.

2009-01-01

13

Genome-level homology and phylogeny of Vibrionaceae (Gammaproteobacteria: Vibrionales) with three new complete genome sequences  

PubMed Central

Background Phylogenetic hypotheses based on complete genome data are presented for the Gammaproteobacteria family Vibrionaceae. Two taxon samplings are presented: one including all those taxa for which the genome sequences are complete in terms of arrangement (chromosomal location of fragments; 19 taxa) and one for which the genome sequences contain multiple contigs (44 taxa). Analyses are presented under the Maximum Parsimony and Maximum Likelihood optimality criteria for total evidence datasets, the two chromosomes separately, and individual analyses of locally collinear blocks. Three of the genomes included in the 44 taxon dataset, those of Vibrio gazogenes, Salinivibrio costicola, and Aliivibrio logei have been newly sequenced and their genome sequences are documented here. Results Phylogenetic results for the 19-taxon datasets show similar levels of collinear subset of dataset incongruence as a previous study of 22 taxa from the sister family Shewanellaceae, while also echoing the strong phylogenetic performance of random subsets of data also shown in this study. Phylogenetic results for both the 19-taxon and 44-taxon datasets corroborate previous hypotheses about the placement of Photobacterium and Aliivibrio within Vibrionaceae and also highlight problems with how Photobacterium is delimited and indicate that it likely should be dissolved into Vibrio to produce a phylogenetic taxonomy. The 19-taxon and 44-taxon trees based on the large chromosome are congruent for the majority of taxa that are present in both datasets. Analyses of the 44-taxon sampling based on the second, small chromosome are quite different from those based on the large chromosome, which is not surprising given the dramatically divergent nature of the small chromosome and the difficulty in postulating primary homologies. Conclusions The phylogenetic analyses presented here represent the most comprehensive genome-level phylogenetic analyses in terms of taxa and data. Based on the availability of genome data for many bacterial species on GenBank, many other bacterial groups would also be amenable to similar genome-scale phylogenetic analyses even when present in multiple contigs. The result that collinear subsets of data are incongruent with the concatenated dataset and with each other while random data subsets show very little incongruence echoes the result of previous work on Shewanellaceae. The 44-taxon phylogenetic analysis presented here thus represents the future of phylogenomic analyses in scope and complexity.

2013-01-01

14

Revealing the hidden functional diversity of an enzyme family.  

PubMed

Millions of protein database entries are not assigned reliable functions, preventing the full understanding of chemical diversity in living organisms. Here, we describe an integrated strategy for the discovery of various enzymatic activities catalyzed within protein families of unknown or little known function. This approach relies on the definition of a generic reaction conserved within the family, high-throughput enzymatic screening on representatives, structural and modeling investigations and analysis of genomic and metabolic context. As a proof of principle, we investigated the DUF849 Pfam family and unearthed 14 potential new enzymatic activities, leading to the designation of these proteins as ?-keto acid cleavage enzymes. We propose an in vivo role for four enzymatic activities and suggest key residues for guiding further functional annotation. Our results show that the functional diversity within a family may be largely underestimated. The extension of this strategy to other families will improve our knowledge of the enzymatic landscape. PMID:24240508

Bastard, Karine; Smith, Adam Alexander Thil; Vergne-Vaxelaire, Carine; Perret, Alain; Zaparucha, Anne; De Melo-Minardi, Raquel; Mariage, Aline; Boutard, Magali; Debard, Adrien; Lechaplais, Christophe; Pelle, Christine; Pellouin, Virginie; Perchat, Nadia; Petit, Jean-Louis; Kreimeyer, Annett; Medigue, Claudine; Weissenbach, Jean; Artiguenave, François; De Berardinis, Véronique; Vallenet, David; Salanoubat, Marcel

2014-01-01

15

Evaluation of the Phoenix 100 ID/AST System and NID Panel for Identification of Enterobacteriaceae, Vibrionaceae, and Commonly Isolated Nonenteric Gram-Negative Bacilli  

PubMed Central

The Phoenix 100 ID/AST system (Becton Dickinson Co., Sparks, Md.) is an automated system for the identification and antimicrobial susceptibility testing of bacterial isolates. This system with its negative identification (NID) panel was evaluated for its accuracy in the identification of 507 isolates of the family Enterobacteriaceae, 57 other nonenteric gram-negative isolates that are commonly isolated in clinical microbiology laboratories, and 138 isolates of the family Vibrionaceae. All of the isolates had been characterized by using approximately 48 conventional tube biochemicals. Of the 507 isolates of the Enterobacteriaceae, 456 (89.9%) were correctly identified to the genus and species levels. The five isolates of Proteus penneri required an off-line indole test, as suggested by the system to differentiate them from Proteus vulgaris. The identifications of 20 (3.9%) isolates were correct to the genus level but incorrect at the species level. Two (0.4%) isolates were reported as “no identification.” Misidentifications to the genus and species levels occurred for 29 (5.7%) isolates of the Enterobacteriaceae. These incorrect identifications were spread over 14 different genera. The most common error was the misidentification of Salmonella species. The shortest time for a correct identification was 2 h 8 min. The longest time was 12 h 27 min, for the identification of a Serratia marcescens isolate. Of the 57 isolates of nonenteric gram-negative bacilli (Acinetobacter, Aeromonas, Burkholderia, Plesiomonas, Pseudomonas, and Stenotrophomonas spp.), 48 (84.2%) were correctly identified to the genus and species levels and 7 (12.3%) were correctly identified to the genus level but not to the species level. The average time for a correct identification was 5 h 11 min. Of the Vibrionaceae spp., 123 (89.1%) were correctly identified at the end of the initial incubation period, which averaged 4 h. Based on the findings of this study, the Phoenix 100 ID/AST system NID panel falls short of being an acceptable new method for the identification of the Enterobacteriaceae, Vibrionaceae, and gram-negative nonenteric isolates that are commonly encountered in many hospital microbiology laboratories.

O'Hara, Caroline M.

2006-01-01

16

Seasonal Incidence of Autochthonous Antagonistic Roseobacter spp. and Vibrionaceae Strains in a Turbot Larva (Scophthalmus maximus) Rearing System  

PubMed Central

Bacteria inhibitory to fish larval pathogenic bacteria were isolated from two turbot larva rearing farms over a 1-year period. Samples were taken from the rearing site, e.g., tank walls, water, and feed for larvae, and bacteria with antagonistic activity against Vibrio anguillarum were isolated using a replica plating assay. Approximately 19,000 colonies were replica plated from marine agar plates, and 341 strains were isolated from colonies causing clearing zones in a layer of V. anguillarum. When tested in a well diffusion agar assay, 173 strains retained the antibacterial activity against V. anguillarum and Vibrio splendidus. Biochemical tests identified 132 strains as Roseobacter spp. and 31 as Vibrionaceae strains. Partial sequencing of the 16S rRNA gene of three strains confirmed the identification as Roseobacter gallaeciensis. Roseobacter spp. were especially isolated in the spring and early summer months. Subtyping of the 132 Roseobacter spp. strains by randomly amplified polymorphic DNA with two primers revealed that the strains formed a very homogeneous group. Hence, it appears that the same subtype was present at both fish farms and persisted during the 1-year survey. This indicates either a common, regular source of the subtype or the possibility that a particular subtype has established itself in some areas of the fish farm. Thirty-one antagonists were identified as Vibrio spp., and 18 of these were V. anguillarum but not serotype O1 or O2. Roseobacter spp. strains were, in particular, isolated from the larval tank walls, and it may be possible to establish an antagonistic, beneficial microflora in the rearing environment of turbot larvae and thereby limit survival of pathogenic bacteria.

Hjelm, Mette; Riaza, Ana; Formoso, Fernanda; Melchiorsen, Jette; Gram, Lone

2004-01-01

17

Accuracy of Six Commercially Available Systems for Identification of Members of the Family Vibrionaceae  

PubMed Central

Six commercially available bacterial identification products were tested with Vibrio alginolyticus (12 strains), V. cholerae (30 strains), Photobacterium (Vibrio) damselae (10 strains), V. fluvialis (10 strains), V. furnissii (4 strains), V. hollisae (10 strains), V. metschnikovii (9 strains), V. mimicus (10 strains), V. parahaemolyticus (30 strains), and V. vulnificus (10 strains) to determine the accuracy of each system for identification. The products included API 20E, Crystal E/NF, MicroScan Neg ID2 and Rapid Neg ID3, and Vitek GNI+ and ID-GNB. Each product was tested only with those species that were listed in its database. Overall, the systems correctly identified 63.9, 80.9, 63.1, 73.6, 73.5, and 77.7% of the isolates to species level, respectively. Error rates ranged from 0.8% for the API 20E to 10.4% for the Rapid Neg ID3. The API 20E gave “no identification” for 13.1% of the isolates, while the Neg ID2, GNI+, ID-GNB, and Crystal were unable to identify 1.8, 2.9, 5.0, and 6.9%, respectively. For V. cholerae, specifically, accuracy ranged from 50.0 to 96.7%, with the API 20E having the worst performance and Crystal having the best. V. fluvialis presented the biggest challenge for the API 20E and the GNI+, with probabilities averaging 10%, while V. mimicus was a major problem with the Crystal E/NF, which identified none of the strains correctly. With the Neg ID2, correct answers were often obtained only after a modified inoculation of the panel with a bacterial suspension prepared with 0.85% NaCl. Additional tests required for identification often included growth in the absence of NaCl, which is not readily available in most clinical laboratories. The only product to correctly identify at least 90% of V. cholerae strains was the Crystal E/NF, and only three of the six products, the API 20E and both of the Vitek cards, correctly identified more than 90% of the V. parahaemolyticus strains. Thus, extreme care must be taken in the interpretation of answers from these six commercially available systems for the identification of Vibrio species.

O'Hara, Caroline M.; Sowers, Evangeline G.; Bopp, Cheryl A.; Duda, Sarah B.; Strockbine, Nancy A.

2003-01-01

18

Accuracy of six commercially available systems for identification of members of the family vibrionaceae.  

PubMed

Six commercially available bacterial identification products were tested with Vibrio alginolyticus (12 strains), V. cholerae (30 strains), Photobacterium (Vibrio) damselae (10 strains), V. fluvialis (10 strains), V. furnissii (4 strains), V. hollisae (10 strains), V. metschnikovii (9 strains), V. mimicus (10 strains), V. parahaemolyticus (30 strains), and V. vulnificus (10 strains) to determine the accuracy of each system for identification. The products included API 20E, Crystal E/NF, MicroScan Neg ID2 and Rapid Neg ID3, and Vitek GNI+ and ID-GNB. Each product was tested only with those species that were listed in its database. Overall, the systems correctly identified 63.9, 80.9, 63.1, 73.6, 73.5, and 77.7% of the isolates to species level, respectively. Error rates ranged from 0.8% for the API 20E to 10.4% for the Rapid Neg ID3. The API 20E gave "no identification" for 13.1% of the isolates, while the Neg ID2, GNI+, ID-GNB, and Crystal were unable to identify 1.8, 2.9, 5.0, and 6.9%, respectively. For V. cholerae, specifically, accuracy ranged from 50.0 to 96.7%, with the API 20E having the worst performance and Crystal having the best. V. fluvialis presented the biggest challenge for the API 20E and the GNI+, with probabilities averaging 10%, while V. mimicus was a major problem with the Crystal E/NF, which identified none of the strains correctly. With the Neg ID2, correct answers were often obtained only after a modified inoculation of the panel with a bacterial suspension prepared with 0.85% NaCl. Additional tests required for identification often included growth in the absence of NaCl, which is not readily available in most clinical laboratories. The only product to correctly identify at least 90% of V. cholerae strains was the Crystal E/NF, and only three of the six products, the API 20E and both of the Vitek cards, correctly identified more than 90% of the V. parahaemolyticus strains. Thus, extreme care must be taken in the interpretation of answers from these six commercially available systems for the identification of Vibrio species. PMID:14662957

O'Hara, Caroline M; Sowers, Evangeline G; Bopp, Cheryl A; Duda, Sarah B; Strockbine, Nancy A

2003-12-01

19

Phylogenetic analysis of the incidence of lux gene horizontal transfer in Vibrionaceae.  

PubMed

Horizontal gene transfer (HGT) is thought to occur frequently in bacteria in nature and to play an important role in bacterial evolution, contributing to the formation of new species. To gain insight into the frequency of HGT in Vibrionaceae and its possible impact on speciation, we assessed the incidence of interspecies transfer of the lux genes (luxCDABEG), which encode proteins involved in luminescence, a distinctive phenotype. Three hundred three luminous strains, most of which were recently isolated from nature and which represent 11 Aliivibrio, Photobacterium, and Vibrio species, were screened for incongruence of phylogenies based on a representative housekeeping gene (gyrB or pyrH) and a representative lux gene (luxA). Strains exhibiting incongruence were then subjected to detailed phylogenetic analysis of horizontal transfer by using multiple housekeeping genes (gyrB, recA, and pyrH) and multiple lux genes (luxCDABEG). In nearly all cases, housekeeping gene and lux gene phylogenies were congruent, and there was no instance in which the lux genes of one luminous species had replaced the lux genes of another luminous species. Therefore, the lux genes are predominantly vertically inherited in Vibrionaceae. The few exceptions to this pattern of congruence were as follows: (i) the lux genes of the only known luminous strain of Vibrio vulnificus, VVL1 (ATCC 43382), were evolutionarily closely related to the lux genes of Vibrio harveyi; (ii) the lux genes of two luminous strains of Vibrio chagasii, 21N-12 and SB-52, were closely related to those of V. harveyi and Vibrio splendidus, respectively; (iii) the lux genes of a luminous strain of Photobacterium damselae, BT-6, were closely related to the lux genes of the lux-rib(2) operon of Photobacterium leiognathi; and (iv) a strain of the luminous bacterium Photobacterium mandapamensis was found to be merodiploid for the lux genes, and the second set of lux genes was closely related to the lux genes of the lux-rib(2) operon of P. leiognathi. In none of these cases of apparent HGT, however, did acquisition of the lux genes correlate with phylogenetic divergence of the recipient strain from other members of its species. The results indicate that horizontal transfer of the lux genes in nature is rare and that horizontal acquisition of the lux genes apparently has not contributed to speciation in recipient taxa. PMID:18359809

Urbanczyk, Henryk; Ast, Jennifer C; Kaeding, Allison J; Oliver, James D; Dunlap, Paul V

2008-05-01

20

Phylogenetic Analysis of the Incidence of lux Gene Horizontal Transfer in Vibrionaceae? †  

PubMed Central

Horizontal gene transfer (HGT) is thought to occur frequently in bacteria in nature and to play an important role in bacterial evolution, contributing to the formation of new species. To gain insight into the frequency of HGT in Vibrionaceae and its possible impact on speciation, we assessed the incidence of interspecies transfer of the lux genes (luxCDABEG), which encode proteins involved in luminescence, a distinctive phenotype. Three hundred three luminous strains, most of which were recently isolated from nature and which represent 11 Aliivibrio, Photobacterium, and Vibrio species, were screened for incongruence of phylogenies based on a representative housekeeping gene (gyrB or pyrH) and a representative lux gene (luxA). Strains exhibiting incongruence were then subjected to detailed phylogenetic analysis of horizontal transfer by using multiple housekeeping genes (gyrB, recA, and pyrH) and multiple lux genes (luxCDABEG). In nearly all cases, housekeeping gene and lux gene phylogenies were congruent, and there was no instance in which the lux genes of one luminous species had replaced the lux genes of another luminous species. Therefore, the lux genes are predominantly vertically inherited in Vibrionaceae. The few exceptions to this pattern of congruence were as follows: (i) the lux genes of the only known luminous strain of Vibrio vulnificus, VVL1 (ATCC 43382), were evolutionarily closely related to the lux genes of Vibrio harveyi; (ii) the lux genes of two luminous strains of Vibrio chagasii, 21N-12 and SB-52, were closely related to those of V. harveyi and Vibrio splendidus, respectively; (iii) the lux genes of a luminous strain of Photobacterium damselae, BT-6, were closely related to the lux genes of the lux-rib2 operon of Photobacterium leiognathi; and (iv) a strain of the luminous bacterium Photobacterium mandapamensis was found to be merodiploid for the lux genes, and the second set of lux genes was closely related to the lux genes of the lux-rib2 operon of P. leiognathi. In none of these cases of apparent HGT, however, did acquisition of the lux genes correlate with phylogenetic divergence of the recipient strain from other members of its species. The results indicate that horizontal transfer of the lux genes in nature is rare and that horizontal acquisition of the lux genes apparently has not contributed to speciation in recipient taxa.

Urbanczyk, Henryk; Ast, Jennifer C.; Kaeding, Allison J.; Oliver, James D.; Dunlap, Paul V.

2008-01-01

21

Bioinformatic analysis of the neprilysin (M13) family of peptidases reveals complex evolutionary and functional relationships  

PubMed Central

Background The neprilysin (M13) family of endopeptidases are zinc-metalloenzymes, the majority of which are type II integral membrane proteins. The best characterised of this family is neprilysin, which has important roles in inactivating signalling peptides involved in modulating neuronal activity, blood pressure and the immune system. Other family members include the endothelin converting enzymes (ECE-1 and ECE-2), which are responsible for the final step in the synthesis of potent vasoconstrictor endothelins. The ECEs, as well as neprilysin, are considered valuable therapeutic targets for treating cardiovascular disease. Other members of the M13 family have not been functionally characterised, but are also likely to have biological roles regulating peptide signalling. The recent sequencing of animal genomes has greatly increased the number of M13 family members in protein databases, information which can be used to reveal evolutionary relationships and to gain insight into conserved biological roles. Results The phylogenetic analysis successfully resolved vertebrate M13 peptidases into seven classes, one of which appears to be specific to mammals, and insect genes into five functional classes and a series of expansions, which may include inactive peptidases. Nematode genes primarily resolved into groups containing no other taxa, bar the two nematode genes associated with Drosophila DmeNEP1 and DmeNEP4. This analysis reconstructed only one relationship between chordate and invertebrate clusters, that of the ECE sub-group and the DmeNEP3 related genes. Analysis of amino acid utilisation in the active site of M13 peptidases reveals a basis for their biochemical properties. A relatively invariant S1' subsite gives the majority of M13 peptidases their strong preference for hydrophobic residues in P1' position. The greater variation in the S2' subsite may be instrumental in determining the specificity of M13 peptidases for their substrates and thus allows M13 peptidases to fulfil a broad range of physiological roles. Conclusion The M13 family of peptidases have diversified extensively in all species examined, indicating wide ranging roles in numerous physiological processes. It is predicted that differences in the S2' subsite are fundamental to determining the substrate specificities that facilitate this functional diversity.

2008-01-01

22

Structural and functional analysis of amphioxus HIF? reveals ancient features of the HIF? family.  

PubMed

Hypoxia-inducible factors (HIFs) are master regulators of the transcriptional response to hypoxia. To gain insight into the structural and functional evolution of the HIF family, we characterized the HIF? gene from amphioxus, an invertebrate chordate, and identified several alternatively spliced HIF? isoforms. Whereas HIF? Ia, the full-length isoform, contained a complete oxygen-dependent degradation (ODD) domain, the isoforms Ib, Ic, and Id had 1 or 2 deletions in the ODD domain. When tagged with GFP and tested in mammalian cells, the amphioxus HIF? Ia protein level increased in response to hypoxia or CoCl2 treatment, whereas HIF? Ib, Ic, and Id showed reduced or no hypoxia regulation. Deletion of the ODD sequence in HIF? Ia up-regulated the HIF? Ia levels under normoxia. Gene expression analysis revealed HIF? Ic to be the predominant isoform in embryos and larvae, whereas isoform Ia was the most abundant form in the adult stage. The expression levels of Ib and Id were very low. Hypoxia treatment of adults had no effect on the mRNA levels of these HIF? isoforms. Functional analyses in mammalian cells showed all 4 HIF? isoforms capable of entering the nucleus and activating hypoxia response element-dependent reporter gene expression. The functional nuclear location signal (NLS) mapped to 3 clusters of basic residues. (775)KKARL functioned as the primary NLS, but (737)KRK and (754)KK also contributed to the nuclear localization. All amphioxus HIF? isoforms had 2 functional transactivation domains (TADs). Its C-terminal transactivation (C-TAD) shared high sequence identity with the human HIF-1? and HIF-2? C-TAD. This domain contained a conserved asparagine, and its mutation resulted in an increase in transcriptional activity. These findings reveal many ancient features of the HIF? family and provide novel insights into the evolution of the HIF? family.-Gao, S., Lu, L., Bai, Y., Zhang, P., Song, W., Duan, C. Structural and functional analysis of amphioxus HIF? reveals ancient features of the HIF? family. PMID:24174425

Gao, Shan; Lu, Ling; Bai, Yan; Zhang, Peng; Song, Weibo; Duan, Cunming

2014-04-01

23

Nuclear factor I revealed as family of promoter binding transcription activators  

PubMed Central

Background Multiplex experimental assays coupled to computational predictions are being increasingly employed for the simultaneous analysis of many specimens at the genome scale, which quickly generates very large amounts of data. However, inferring valuable biological information from the comparisons of very large genomic datasets still represents an enormous challenge. Results As a study model, we chose the NFI/CTF family of mammalian transcription factors and we compared the results obtained from a genome-wide study of its binding sites with chromatin structure assays, gene expression microarray data, and in silico binding site predictions. We found that NFI/CTF family members preferentially bind their DNA target sites when they are located around transcription start sites when compared to control datasets generated from the random subsampling of the complete set of NFI binding sites. NFI proteins preferably associate with the upstream regions of genes that are highly expressed and that are enriched in active chromatin modifications such as H3K4me3 and H3K36me3. We postulate that this is a causal association and that NFI proteins mainly act as activators of transcription. This was documented for one member of the family (NFI-C), which revealed as a more potent gene activator than repressor in global gene expression analysis. Interestingly, we also discovered the association of NFI with the tri-methylation of lysine 9 of histone H3, a chromatin marker previously associated with the protection against silencing of telomeric genes by NFI. Conclusion Taken together, we illustrate approaches that can be taken to analyze large genomic data, and provide evidence that NFI family members may act in conjunction with specific chromatin modifications to activate gene expression.

2011-01-01

24

The intergenerational correlation in weight: How genetic resemblance reveals the social role of families*  

PubMed Central

According to behavioral genetics research, the intergenerational correlation in weight derives solely from shared genetic predispositions, but complete genetic determinism contradicts the scientific consensus that social and behavioral change underlies the modern obesity epidemic. To address this conundrum, this article utilizes sibling data from the National Longitudinal Study of Adolescent Health and extends structural equation sibling models to incorporate siblings’ genetic relationships to explore the role of families’ social characteristics for adolescent weight. The article is the first to demonstrate that the association between parents’ obesity and adolescent weight is both social and genetic. Furthermore, by incorporating genetic information, the shared and social origins of the correlation between inactivity and weight are better revealed.

Martin, Molly A.

2009-01-01

25

Impact of community-acquired paediatric rotavirus gastroenteritis on family life: data from the REVEAL study  

PubMed Central

Background Rotavirus is the leading cause of acute gastroenteritis (AGE) and the most frequent cause of severe diarrhoea in children aged less than 5 years. Although the epidemiology of rotavirus gastroenteritis (RVGE) is well documented, there are few data on the impact of RVGE on the families of affected children. Methods Data associated with the burden of RVGE, including number of working days lost, levels of parental stress, the need for alternative childcare arrangements and additional nappies used, were extracted from questionnaires completed by parents of children participating in a prospective, multicentre, observational study (Rotavirus gastroenteritis Epidemiology and Viral types in Europe Accounting for Losses in public health and society, REVEAL), conducted during 2004-2005 in selected areas of Belgium, France, Germany, Italy, Spain, Sweden, and the United Kingdom to estimate the incidence of RVGE in children aged less than 5 years seeking medical care as a result of AGE. Results 1102 children with RVGE were included in the present analysis. The proportion of RVGE cases that required at least one parent or other person to be absent from work was 39%-91% in the hospital setting, 44%-64% in the emergency department, and 20%-64% in primary care. Self-reported levels of parental stress were generally high (mean stress levels, ? 5 on a 10-point visual analogue scale). Additional childcare arrangements were required in up to 21% of RVGE episodes. The mean number of nappies used per day during RVGE episodes was approximately double that used when the child was not ill. Conclusions Paediatric RVGE cases cause disruption to families and parental stress. The burden of RVGE on children and their families could be substantially reduced by routine rotavirus vaccination of infants.

2010-01-01

26

Phylogenomic Analysis Reveals Dynamic Evolutionary History of the Drosophila Heterochromatin Protein 1 (HP1) Gene Family  

PubMed Central

Heterochromatin is the gene-poor, satellite-rich eukaryotic genome compartment that supports many essential cellular processes. The functional diversity of proteins that bind and often epigenetically define heterochromatic DNA sequence reflects the diverse functions supported by this enigmatic genome compartment. Moreover, heterogeneous signatures of selection at chromosomal proteins often mirror the heterogeneity of evolutionary forces that act on heterochromatic DNA. To identify new such surrogates for dissecting heterochromatin function and evolution, we conducted a comprehensive phylogenomic analysis of the Heterochromatin Protein 1 gene family across 40 million years of Drosophila evolution. Our study expands this gene family from 5 genes to at least 26 genes, including several uncharacterized genes in Drosophila melanogaster. The 21 newly defined HP1s introduce unprecedented structural diversity, lineage-restriction, and germline-biased expression patterns into the HP1 family. We find little evidence of positive selection at these HP1 genes in both population genetic and molecular evolution analyses. Instead, we find that dynamic evolution occurs via prolific gene gains and losses. Despite this dynamic gene turnover, the number of HP1 genes is relatively constant across species. We propose that karyotype evolution drives at least some HP1 gene turnover. For example, the loss of the male germline-restricted HP1E in the obscura group coincides with one episode of dramatic karyotypic evolution, including the gain of a neo-Y in this lineage. This expanded compendium of ovary- and testis-restricted HP1 genes revealed by our study, together with correlated gain/loss dynamics and chromosome fission/fusion events, will guide functional analyses of novel roles supported by germline chromatin.

Levine, Mia T.; McCoy, Connor; Vermaak, Danielle; Lee, Yuh Chwen G.; Hiatt, Mary Alice; Matsen, Frederick A.; Malik, Harmit S.

2012-01-01

27

RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families  

PubMed Central

Background In more than 70% of families with a strong history of breast and ovarian cancers, pathogenic mutation in BRCA1 or BRCA2 cannot be identified, even though hereditary factors are expected to be involved. It has been proposed that tumors with similar molecular phenotypes also share similar underlying pathophysiological mechanisms. In the current study, the aim was to investigate if global RNA profiling can be used to identify functional subgroups within breast tumors from families tested negative for BRCA1/2 germline mutations and how these subgroupings relate to different breast cancer patients within the same family. Methods In the current study we analyzed a collection of 70 frozen breast tumor biopsies from a total of 58 families by global RNA profiling and promoter methylation analysis. Results We show that distinct functional subgroupings, similar to the intrinsic molecular breast cancer subtypes, exist among non-BRCA1/2 breast cancers. The distribution of subtypes was markedly different from the distribution found among BRCA1/2 mutation carriers. From 11 breast cancer families, breast tumor biopsies from more than one affected family member were included in the study. Notably, in 8 of these families we found that patients from the same family shared the same tumor subtype, showing a tendency of familial aggregation of tumor subtypes (p-value?=?1.7e-3). Using our previously developed BRCA1/2-signatures, we identified 7 non-BRCA1/2 tumors with a BRCA1-like molecular phenotype and provide evidence for epigenetic inactivation of BRCA1 in three of the tumors. In addition, 7 BRCA2-like tumors were found. Conclusions Our finding indicates involvement of hereditary factors in non-BRCA1/2 breast cancer families in which family members may carry genetic susceptibility not just to breast cancer but to a particular subtype of breast cancer. This is the first study to provide a biological link between breast cancers from family members of high-risk non-BRCA1/2 families in a systematic manner, suggesting that future genetic analysis may benefit from subgrouping families into molecularly homogeneous subtypes in order to search for new high penetrance susceptibility genes.

2014-01-01

28

New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa  

PubMed Central

Sialidases are glycohydrolytic enzymes present from virus to mammals that remove sialic acid from oligosaccharide chains. Four different sialidase forms are known in vertebrates: the lysosomal NEU1, the cytosolic NEU2 and the membrane-associated NEU3 and NEU4. These enzymes modulate the cell sialic acid content and are involved in several cellular processes and pathological conditions. Molecular defects in NEU1 are responsible for sialidosis, an inherited disease characterized by lysosomal storage disorder and neurodegeneration. The studies on the biology of sialic acids and sialyltransferases, the anabolic counterparts of sialidases, have revealed a complex picture with more than 50 sialic acid variants selectively present in the different branches of the tree of life. The gain/loss of specific sialoconjugates have been proposed as key events in the evolution of deuterostomes and Homo sapiens, as well as in the host-pathogen interactions. To date, less attention has been paid to the evolution of sialidases. Thus we have conducted a survey on the state of the sialidase family in metazoan. Using an in silico approach, we identified and characterized sialidase orthologs from 21 different organisms distributed among the evolutionary tree: Metazoa relative (Monosiga brevicollis), early Deuterostomia, precursor of Chordata and Vertebrata (teleost fishes, amphibians, reptiles, avians and early and recent mammals). We were able to reconstruct the evolution of the sialidase protein family from the ancestral sialidase NEU1 and identify a new form of the enzyme, NEU5, representing an intermediate step in the evolution leading to the modern NEU3, NEU4 and NEU2. Our study provides new insights on the mechanisms that shaped the substrate specificity and other peculiar properties of the modern mammalian sialidases. Moreover, we further confirm findings on the catalytic residues and identified enzyme loop portions that behave as rapidly diverging regions and may be involved in the evolution of specific properties of sialidases.

Giacopuzzi, Edoardo; Bresciani, Roberto; Schauer, Roland; Monti, Eugenio; Borsani, Giuseppe

2012-01-01

29

Helicobacter pylori: Clonal Population Structure and Restricted Transmission within Families Revealed by Molecular Typing  

PubMed Central

Helicobacter pylori infects up to 50% of the human population worldwide. The infection occurs predominantly in childhood and persists for decades or a lifetime. H. pylori is believed to be transmitted from person to person. However, tremendous genetic diversity has been reported for these bacteria. In order to gain insight into the epidemiological basis of this phenomenon, we performed molecular typing of H. pylori isolates from different families. Fifty-nine H. pylori isolates from 27 members of nine families were characterized by using restriction fragment length polymorphism analysis of five PCR-amplified genes, by pulsed-field gel electrophoresis (PFGE) of chromosomal DNA, and by vacA and cagA genotyping. The 16S rRNA gene exhibited little allelic variation, as expected for a unique bacterial species. In contrast, the vacA, flaA, ureAB, and lspA-glmM genes were highly polymorphic, with a mean genetic diversity of 0.83, which exceeds the levels recorded for all other bacterial species. In conjunction with PFGE, 59 H. pylori isolates could be differentiated into 21 clonal types. Each individual harbored only one clone, occasionally with a clonal variant. Identical strains were always found either between siblings or between a mother and her children. Statistical analysis revealed clonality of population structure in all isolates. The results of this study suggest the possible coexistence of a large array of clonal lineages that are evolving in each individual in isolation from one another. Transmission appears to occur primarily from mother to child and perhaps between siblings.

Han, Shan-Rui; Zschausch, Hans-Christoph E.; Meyer, Heinz-Georg W.; Schneider, Thomas; Loos, Michael; Bhakdi, Sucharit; Maeurer, Markus J.

2000-01-01

30

Gene expression profiling reveals role for EGF-family ligands in mesangial cell proliferation.  

PubMed

Control of mesangial cell growth and matrix accumulation is critical for normal development of the glomerular tuft and progression of glomerular injury, but the genes that control mesangial cell growth are not well understood. We used high-density oligonucleotide microarrays to analyze gene expression in well-differentiated human mesangial cells treated with serum to stimulate proliferation. Parallel measurement of >12,000 genes and expressed sequence tags identified 5,806 mRNA transcripts in quiescent, unstimulated cells and 609 genes significantly induced or repressed by serum. Functional classification of serum-regulated genes revealed many genes not directly related to cell cycle progression that, instead, might control renal hemodynamics and glomerular filtration or cause tissue injury, leukocyte exudation, matrix accumulation, and fibrosis. Hierarchical cluster analysis defined sets of coregulated genes with similar functions and identified networks of proinflammatory genes with similar expression patterns. Pathway analysis of the gene expression profile suggested an autocrine role in mesangial cell proliferation for three growth factors in the epidermal growth factor (EGF) family: heparin-binding EGF-like growth factor, amphiregulin, and epiregulin. A functional role for EGF receptor (EGFR) activation was confirmed by blocking serum-induced proliferation with an EGFR-selective kinase inhibitor and a specific EGFR-neutralizing antibody. Taken together, these results suggest a role for EGFR signaling in control of mesangial cell growth in response to serum. PMID:12372792

Mishra, Rangnath; Leahy, Patrick; Simonson, Michael S

2002-11-01

31

Structure of the Archaeal Pab87 Peptidase Reveals a Novel Self-Compartmentalizing Protease Family  

PubMed Central

Self-compartmentalizing proteases orchestrate protein turnover through an original architecture characterized by a central catalytic chamber. Here we report the first structure of an archaeal member of a new self-compartmentalizing protease family forming a cubic-shaped octamer with D4 symmetry and referred to as CubicO. We solved the structure of the Pyrococcus abyssi Pab87 protein at 2.2 Ĺ resolution using the anomalous signal of the high-phasing-power lanthanide derivative Lu-HPDO3A. A 20 Ĺ wide channel runs through this supramolecular assembly of 0.4 MDa, giving access to a 60 Ĺ wide central chamber holding the eight active sites. Surprisingly, activity assays revealed that Pab87 degrades specifically d-amino acid containing peptides, which have never been observed in archaea. Genomic context of the Pab87 gene showed that it is surrounded by genes involved in the amino acid/peptide transport or metabolism. We propose that CubicO proteases are involved in the processing of d-peptides from environmental origins.

Delfosse, Vanessa; Girard, Eric; Birck, Catherine; Delmarcelle, Michael; Delarue, Marc; Poch, Olivier; Schultz, Patrick; Mayer, Claudine

2009-01-01

32

Water-quality parameters and total aerobic bacterial and Vibrionaceae loads in Eastern oysters (Crassostrea virginica) from oyster-gardening sites.  

PubMed

Oyster gardening is a practice designed to restore habitat for marine life and to improve water quality. This study determined physical and chemical water-quality parameters at two oyster gardening sites in the Delaware Inland Bays and compared them with total aerobic bacteria and Vibrionaceae concentrations in Eastern oysters (Crassostrea virginica). One site was located at the end of a man-made canal, whereas the other was located in an open bay. Measured water parameters included temperature, dissolved oxygen (DO), salinity, pH, total nitrogen, nitrate, nitrite, total phosphorus, and total suspended solids. The highest Vibrionaceae levels, as determined by the colony overlay procedure for peptidases, were at the canal site in September (3.5 × 10(5) g(-1)) and at the bay site in August (1.9 × 10(5) g(-1)). Vibrionaceae levels were significantly greater during the duration of the study at the canal site (P = 0.01). This study provides the first baseline levels for total Vibrionaceae in the Delaware Inland Bays. Minimum DO readings at the bay and canal sites were 3.0 and 2.3 mg l(-1), respectively, far less than the state-targeted minimum threshold of 5.0 mg l(-1). Total phosphorus levels exceeded recommendations of ?0.1 mg l(-1) at the bay and canal sites for all monthly samplings, with mean monthly highs at both sites ?0.68 mg l(-1) in August. Nitrogen occasionally exceeded the recommended level of 1.0 mg l(-1) at both sites. Overall, waters were highly degraded from high phosphates, nitrogen, and total suspended solids as well as low DO. PMID:22183874

Fay, Johnna P; Richards, Gary P; Ozbay, Gulnihal

2012-05-01

33

A multi-faceted analysis of RutD reveals a novel family of ?/? hydrolases  

PubMed Central

The rut pathway of pyrimidine catabolism is a novel pathway that allows pyrimidine bases to serve as the sole nitrogen source in suboptimal temperatures. The rut operon in E. coli evaded detection until 2006, yet consists of seven proteins named RutA, RutB, etc. through RutG. The operon is comprised of a pyrimidine transporter and six enzymes that cleave and further process the uracil ring. Herein, we report the structure of RutD, a member of the ?/? hydrolase superfamily, which is proposed to enhance the rate of hydrolysis of aminoacrylate, a toxic side product of uracil degradation, to malonic semialdehyde. Although this reaction will occur spontaneously in water, the toxicity of aminoacrylate necessitates catalysis by RutD for efficient growth with uracil as a nitrogen source. RutD has a novel and conserved arrangement of residues corresponding to the ?/? hydrolase active site, where the nucleophile’s spatial position occupied by Ser, Cys or Asp of the canonical catalytic triad is replaced by histidine. We have used a combination of crystallographic structure determination, modeling and bioinformatics, to propose a novel mechanism for this enzyme. This approach also revealed that RutD represents a previously undescribed family within the ?/? hydrolases. We compare and contrast RutD with PcaD, which is the closest structural homolog to RutD. PcaD is a 3-oxoadipate-enol-lactonase-with a classic arrangement of residues in the active site. We have modeled a substrate in the PcaD active site and proposed a reaction mechanism.

Knapik, Aleksandra A.; Petkowski, Janusz J.; Otwinowski, Zbyszek; Cymborowski, Marcin T.; Cooper, David R.; Majorek, Karolina A.; Chruszcz, Maksymilian; Krajewska, Wanda M.; Minor, Wladek

2012-01-01

34

SH3 Domain-Based Phototrapping in Living Cells Reveals Rho Family GAP Signaling Complexes  

PubMed Central

Rho family GAPs [guanosine triphosphatase (GTPase) activating proteins] negatively regulate Rho family GTPase activity and therefore modulate signaling events that control cytoskeletal dynamics. The spatial distribution of these GAPs and their specificity toward individual GTPases are controlled by their interactions with various proteins within signaling complexes. These interactions are likely mediated through the Src homology 3 (SH3) domain, which is abundant in the Rho family GAP proteome and exhibits a micromolar binding affinity, enabling the Rho family GAPs to participate in transient interactions with multiple binding partners. To capture these elusive GAP signaling complexes in situ, we developed a domain-based proteomics approach, starting with in vivo phototrapping of SH3 domain– binding proteins and the mass spectrometry identification of associated proteins for nine representative Rho family GAPs. After the selection of candidate binding proteins by cluster analysis, we performed peptide array–based high-throughput in vitro binding assays to confirm the direct interactions and map the SH3 domain–binding sequences. We thereby identified 54 SH3-mediated binding interactions (including 51 previously unidentified ones) for nine Rho family GAPs. We constructed Rho family GAP interactomes that provided insight into the functions of these GAPs. We further characterized one of the predicted functions for the Rac-specific GAP WRP and identified a role for WRP in mediating clustering of the postsynaptic scaffolding protein gephyrin and the GABAA (?-aminobutyric acid type A) receptor at inhibitory synapses.

Okada, Hirokazu; Uezu, Akiyoshi; Mason, Frank M.; Soderblom, Erik J.; Moseley, M. Arthur; Soderling, Scott H.

2012-01-01

35

Cross-species gene-family fluctuations reveal the dynamics of horizontal transfers  

PubMed Central

Prokaryotes vary their protein repertoire mainly through horizontal transfer and gene loss. To elucidate the links between these processes and the cross-species gene-family statistics, we perform a large-scale data analysis of the cross-species variability of gene-family abundance (the number of members of the family found on a given genome). We find that abundance fluctuations are related to the rate of horizontal transfers. This is rationalized by a minimal theoretical model, which predicts this link. The families that are not captured by the model show abundance profiles that are markedly peaked around a mean value, possibly because of specific abundance selection. Based on these results, we define an abundance variability index that captures a family's evolutionary behavior (and thus some of its relevant functional properties) purely based on its cross-species abundance fluctuations. Analysis and model, combined, show a quantitative link between cross-species family abundance statistics and horizontal transfer dynamics, which can be used to analyze genome ‘flux’. Groups of families with different values of the abundance variability index correspond to genome sub-parts having different plasticity in terms of the level of horizontal exchange allowed by natural selection.

Grilli, Jacopo; Romano, Mariacristina; Bassetti, Federico; Cosentino Lagomarsino, Marco

2014-01-01

36

Multiple deletions reveal the essentiality of the DedA membrane protein family in Escherichia coli.  

PubMed

The DedA family is a highly conserved, ancient family of membrane proteins with representatives in most sequenced genomes. A characteristic of prokaryotic DedA family genes is extensive gene duplication, with most bacterial genomes carrying two or more homologues. The Escherichia coli genome carries eight DedA genes, each individually nonessential. We previously described an E. coli mutant (BC202; ?yghB : : kan(R), ?yqjA : : tet(R)) with in-frame deletions of two DedA genes encoding proteins with 61 % amino acid identity. BC202 fails to complete cell division or grow at elevated temperatures. Here, we report that restoration of normal growth and cell division of BC202 is possible by overexpression of a subset of the eight E. coli DedA genes (yabI, yohD, yqjA and yghB) but not others (dedA, ydjX, ydjZ and yqaA), suggesting the existence of two functional groups within the family. We have constructed individual E. coli strains in which all eight DedA genes are deleted in a nonpolar manner, and growth is supported by a single DedA family gene under control of an inducible promoter. Strain BAL801 (with growth supported by cloned dedA) and BAL802 (with growth supported by cloned yqjA) exhibit slow growth that is absolutely dependent upon the presence of the arabinose inducer. Growth in the presence of glucose results in cell death. These results indicate that while not individually essential, the E. coli DedA family proteins are collectively essential. These observations suggest important functions for the E. coli DedA protein family. PMID:22301910

Boughner, Lisa A; Doerrler, William T

2012-05-01

37

The dynamics of a family's gut microbiota reveal variations on a theme  

PubMed Central

Background It is clear that the structure and function of the human microbiota has significant impact on maintenance of health and yet the factors that give rise to an adult microbiota are poorly understood. A combination of genetics, diet, environment, and life history are all thought to impact the development of the gut microbiome. Here we study a chronosequence of the gut microbiota found in eight individuals from a family consisting of two parents and six children ranging in age from two months to ten years old. Results Using 16S rRNA gene and metagenomic shotgun sequence data, it was possible to distinguish the family from a cohort of normal individuals living in the same geographic region and to differentiate each family member. Interestingly, there was a significant core membership to the family members’ microbiota where the abundance of this core accounted for the differences between individuals. It was clear that the introduction of solids represents a significant transition in the development of a mature microbiota. This transition was associated with increased diversity, decreased stability, and the colonization of significant abundances of Bacteroidetes and Clostridiales. Although the children and mother shared essentially the identical diet and environment, the children’s microbiotas were not significantly more similar to their mother than they were to their father. Conclusions This analysis underscores the complex interactions that give rise to a personalized microbiota and suggests the value of studying families as a surrogate for longitudinal studies.

2014-01-01

38

Active site profiling reveals coupling between domains in SRC-family kinases  

PubMed Central

Protein kinases, key regulators of intracellular signal transduction, have emerged as an important class of drug targets. Chemical proteomic tools that facilitate the functional interrogation of protein kinase active sites are powerful reagents for studying the regulation of this large enzyme family and for performing inhibitor selectivity screens. Here we describe a new crosslinking strategy that enables rapid and quantitative profiling of protein kinase active sites in lysates and live cells. Applying this methodology to the SRC-family kinases (SFKs) SRC and HCK led to the identification of a series of conformation-specific, ATP-competitive inhibitors that display a distinct preference for autoinhibited forms of these kinases. Furthermore, we show that ligands that demonstrate this selectivity are able to modulate the ability of the regulatory domains of SRC and HCK to engage in intermolecular binding interactions. These studies provide insight into the regulation of this important family of tyrosine kinases.

Krishnamurty, Ratika; Brigham, Jennifer L.; Leonard, Stephen E.; Ranjitkar, Pratistha; Larson, Eric T.; Dale, Edward J.; Merritt, Ethan A.; Maly, Dustin J.

2012-01-01

39

Impact of community-acquired paediatric rotavirus gastroenteritis on family life: data from the REVEAL study  

Microsoft Academic Search

BACKGROUND: Rotavirus is the leading cause of acute gastroenteritis (AGE) and the most frequent cause of severe diarrhoea in children aged less than 5 years. Although the epidemiology of rotavirus gastroenteritis (RVGE) is well documented, there are few data on the impact of RVGE on the families of affected children. METHODS: Data associated with the burden of RVGE, including number

Marie Van der Wielen; Carlo Giaquinto; Leif Gothefors; Christel Huelsse; Frédéric Huet; Martina Littmann; Melanie Maxwell; José MP Talayero; Peter Todd; Miguel T Vila; Luigi Cantarutti; Pierre Van Damme

2010-01-01

40

Exome sequencing reveals VCP mutations as a cause of familial ALS.  

PubMed

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on TDP-43 protein, a major constituent of ubiquitin inclusions that neuropathologically characterize ALS. Our data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ?1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neuron degeneration. PMID:21145000

Johnson, Janel O; Mandrioli, Jessica; Benatar, Michael; Abramzon, Yevgeniya; Van Deerlin, Vivianna M; Trojanowski, John Q; Gibbs, J Raphael; Brunetti, Maura; Gronka, Susan; Wuu, Joanne; Ding, Jinhui; McCluskey, Leo; Martinez-Lage, Maria; Falcone, Dana; Hernandez, Dena G; Arepalli, Sampath; Chong, Sean; Schymick, Jennifer C; Rothstein, Jeffrey; Landi, Francesco; Wang, Yong-Dong; Calvo, Andrea; Mora, Gabriele; Sabatelli, Mario; Monsurrň, Maria Rosaria; Battistini, Stefania; Salvi, Fabrizio; Spataro, Rossella; Sola, Patrizia; Borghero, Giuseppe; Galassi, Giuliana; Scholz, Sonja W; Taylor, J Paul; Restagno, Gabriella; Chiň, Adriano; Traynor, Bryan J

2010-12-01

41

Exome sequencing reveals VCP mutations as a cause of familial ALS  

PubMed Central

Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget’s disease and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically-proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on TDP-43 protein, a major constituent of ubiquitin inclusions that neuropathologically characterize ALS. Our data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ~1–2% of familial ALS, and represent the first evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neuron degeneration.

Johnson, Janel O.; Mandrioli, Jessica; Benatar, Michael; Abramzon, Yevgeniya; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Gibbs, J Raphael; Brunetti, Maura; Gronka, Susan; Wuu, Joanne; Ding, Jinhui; McCluskey, Leo; Martinez-Lage, Maria; Falcone, Dana; Hernandez, Dena G.; Arepalli, Sampath; Chong, Sean; Schymick, Jennifer C.; Rothstein, Jeffrey; Landi, Francesco; Wang, Michael; Calvo, Andrea; Mora, Gabriele; Sabatelli, Mario; Monsurro, Maria Rosaria; Battistini, Stefania; Salvi, Fabrizio; Spataro, Rossella; Sola, Patrizia; Borghero, Giuseppe; Galassi, Giuliana; Scholz, Sonja W.; Taylor, J. Paul; Restagno, Gabriella; Chio, Adriano; Traynor, Bryan J.

2010-01-01

42

Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses  

Microsoft Academic Search

BACKGROUND: Mutations in the Otopetrin 1 gene (Otop1) in mice and fish produce an unusual bilateral vestibular pathology that involves the absence of otoconia without hearing impairment. The encoded protein, Otop1, is the only functionally characterized member of the Otopetrin Domain Protein (ODP) family; the extended sequence and structural preservation of ODP proteins in metazoans suggest a conserved functional role.

Belen Hurle; Tomas Marques-Bonet; Francesca Antonacci; Inna Hughes; Joseph F Ryan; Evan E Eichler; David M Ornitz; Eric D Green

2011-01-01

43

Oxylipin Diversity in the Diatom Family Leptocylindraceae Reveals DHA Derivatives in Marine Diatoms  

PubMed Central

Marine planktonic organisms, such as diatoms, are prospective sources of novel bioactive metabolites. Oxygenated derivatives of fatty acids, generally referred to as oxylipins, in diatoms comprise a highly diverse and complex family of secondary metabolites. These molecules have recently been implicated in several biological processes including intra- and inter-cellular signaling as well as in defense against biotic stressors and grazers. Here, we analyze the production and diversity of C20 and C22 non-volatile oxylipins in five species of the family Leptocylindraceae, which constitute a basal clade in the diatom phylogeny. We report the presence of species-specific lipoxygenase activity and oxylipin patterns, providing the first demonstration of enzymatic production of docosahexaenoic acid derivatives in marine diatoms. The differences observed in lipoxygenase pathways among the species investigated broadly reflected the relationships observed with phylogenetic markers, thus providing functional support to the taxonomic diversity of the individual species.

Nanjappa, Deepak; d'Ippolito, Giuliana; Gallo, Carmela; Zingone, Adriana; Fontana, Angelo

2014-01-01

44

Structure of the Archaeal Pab87 Peptidase Reveals a Novel Self-Compartmentalizing Protease Family  

Microsoft Academic Search

Self-compartmentalizing proteases orchestrate protein turnover through an original architecture characterized by a central catalytic chamber. Here we report the first structure of an archaeal member of a new self-compartmentalizing protease family forming a cubic-shaped octamer with D4 symmetry and referred to as CubicO. We solved the structure of the Pyrococcus abyssi Pab87 protein at 2.2 Ĺ resolution using the anomalous

Vanessa Delfosse; Eric Girard; Catherine Birck; Michaël Delmarcelle; Marc Delarue; Olivier Poch; Patrick Schultz; Claudine Mayer; Bostjan Kobe

2009-01-01

45

Growth kinetics of extremely halophilic archaea (family halobacteriaceae) as revealed by arrhenius plots.  

PubMed

Members of the family Halobacteriaceae in the domain Archaea are obligate extreme halophiles. They occupy a variety of hypersaline environments, and their cellular biochemistry functions in a nearly saturated salty milieu. Despite extensive study, a detailed analysis of their growth kinetics is missing. To remedy this, Arrhenius plots for 14 type species of the family were generated. These organisms had maximum growth temperatures ranging from 49 to 58 degrees C. Nine of the organisms exhibited a single temperature optimum, while five grew optimally at more than one temperature. Generation times at these optimal temperatures ranged from 1.5 h (Haloterrigena turkmenica) to 3.0 h (Haloarcula vallismortis and Halorubrum saccharovorum). All shared an inflection point at 31 +/- 4 degrees C, and the temperature characteristics for 12 of the 14 type species were nearly parallel. The other two species (Natronomonas pharaonis and Natronorubrum bangense) had significantly different temperature characteristics, suggesting that the physiology of these strains is different. In addition, these data show that the type species for the family Halobacteriaceae share similar growth kinetics and are capable of much faster growth at higher temperatures than those previously reported. PMID:15659670

Robinson, Jessie L; Pyzyna, Brandy; Atrasz, Rachelle G; Henderson, Christine A; Morrill, Kira L; Burd, Anna Mae; Desoucy, Erik; Fogleman, Rex E; Naylor, John B; Steele, Sarah M; Elliott, Dawn R; Leyva, Kathryn J; Shand, Richard F

2005-02-01

46

Global Analysis of miRNA Gene Clusters and Gene Families Reveals Dynamic and Coordinated Expression  

PubMed Central

To further understand the potential expression relationships of miRNAs in miRNA gene clusters and gene families, a global analysis was performed in 4 paired tumor (breast cancer) and adjacent normal tissue samples using deep sequencing datasets. The compositions of miRNA gene clusters and families are not random, and clustered and homologous miRNAs may have close relationships with overlapped miRNA species. Members in the miRNA group always had various expression levels, and even some showed larger expression divergence. Despite the dynamic expression as well as individual difference, these miRNAs always indicated consistent or similar deregulation patterns. The consistent deregulation expression may contribute to dynamic and coordinated interaction between different miRNAs in regulatory network. Further, we found that those clustered or homologous miRNAs that were also identified as sense and antisense miRNAs showed larger expression divergence. miRNA gene clusters and families indicated important biological roles, and the specific distribution and expression further enrich and ensure the flexible and robust regulatory network.

Guo, Li; Yang, Sheng; Zhao, Yang; Zhang, Hui; Wu, Qian; Chen, Feng

2014-01-01

47

Vitamin E analyses in seeds reveal a dominant presence of tocotrienols over tocopherols in the Arecaceae family.  

PubMed

Tocopherols are thought to prevent oxidative damage during seed quiescence and dormancy in all angiosperms. However, several monocot species accumulate tocotrienols in seeds and their role remains elusive. Here, we aimed to unravel the distribution of tocopherols and tocotrienols in seeds of the Arecaceae family, to examine possible trends of vitamin E accumulation within different clades of the same family. We examined the tocopherol and tocotrienol content in seeds of 84 species. Furthermore, we evaluated the vitamin E composition of the seed coat, endosperm and embryo of seeds from 6 species, to determine possible tissue-specific functions of particular vitamin E forms. While seeds of 98.8% (83 out of 84) of the species accumulated tocotrienols, only 58.3% (49 out of 84) accumulated tocopherols. The presence of tocopherols did not follow a clear evolutionary trend, and appeared randomly in some clades only. In addition, the tissue-specific location of vitamin E in seeds revealed that the embryo contains mostly ?-tocopherol (in seed tocopherol-accumulating species) or ?-tocotrienol (in seed tocopherol-deficient species). However, some species such as Socratea exorrhiza mostly accumulate ?-tocotrienol, and Parajubaea torallyi accumulates a mixture of tocopherols and tocotrienols in the embryo. This suggests that tocotrienols can play a similar protective role to that exerted by tocopherols in seeds, at least in some species of the Arecaceae family. We conclude that tocotrienol, rather than tocopherol, accumulation is a conserved trait in seeds of the Arecaceae family. PMID:23920227

Siles, Laura; Cela, Jana; Munné-Bosch, Sergi

2013-11-01

48

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.  

PubMed

Mutations in almost 200 genes are associated with hereditary retinal diseases. Of these diseases, retinitis pigmentosa (RP) is the most common and is genetically and clinically highly heterogeneous. At least 62 genes are associated with RP and mutations in these genes account for approximately half of the cases of disease. In the present study, mutations in the CHM gene, which are known to associate with choroideremia, were identified in six of 157 families with retinitis pigmentosa by whole exome sequencing. No potential pathogenic mutations in the 62 RP?associated genes were found in the six families. Sanger sequencing confirmed the mutations in CHM, including four novel (c.558_559delTT, c.964G>T, c.966delA, c.1166+2T>G) and two known (c.703?1G>A and c.1584_1587delTGTT) mutations. Available clinical data suggest an atypical phenotype of choroideremia in these patients compared to that of Caucasians. Overlapping clinical features and atypical phenotypic variation may contribute to the confusion of one another. Awareness of the phenotypic variation and careful clinical examination may facilitate proper clinical diagnosis and genetic counseling of complicated hereditary retinal diseases. Whole exome sequencing therefore is useful in the identification of genetic cause for less clarified hereditary retinal diseases and enriches our understanding of phenotypic variations of gene mutation. PMID:24913019

Li, Shiqiang; Guan, Liping; Fang, Shaohua; Jiang, Hui; Xiao, Xueshan; Yang, Jianhua; Wang, Panfeng; Yin, Ye; Guo, Xiangming; Wang, Jun; Zhang, Jianguo; Zhang, Qingjiong

2014-08-01

49

A survey of Populus PIN-FORMED family genes reveals their diversified expression patterns.  

PubMed

The plant hormone auxin is a key regulator of plant development, and its uneven distribution maintained by polar intercellular auxin transport in plant tissues can trigger a wide range of developmental processes. Although the roles of PIN-FORMED (PIN) proteins in intercellular auxin flow have been extensively characterized in Arabidopsis, their roles in woody plants remain unclear. Here, a comprehensive analysis of PIN proteins in Populus is presented. Fifteen PINs are encoded in the genome of Populus, including four PIN1s, one PIN2, two PIN3s, three PIN5s, three PIN6s, and two PIN8s. Similar to Arabidopsis AtPIN proteins, PtPINs share conserved topology and transmembrane domains, and are either plasma membrane- or endoplasmic reticulum-localized. The more diversified expansion of the PIN family in Populus, comparing to that in Arabidopsis, indicates that some auxin-regulated developmental processes, such as secondary growth, may exhibit unique features in trees. More importantly, different sets of PtoPINs have been found to be strongly expressed in the roots, leaves, and cambium in Populus; the dynamic expression patterns of selected PtoPINs were further examined during the regeneration of shoots and roots. This genome-wide analysis of the Populus PIN family provides important cues for their potential roles in tree growth and development. PMID:24663343

Liu, Bobin; Zhang, Jin; Wang, Lin; Li, Jianbo; Zheng, Huanquan; Chen, Jun; Lu, Mengzhu

2014-06-01

50

Comparative Genome Analysis of Filamentous Fungi Reveals Gene Family Expansions Associated with Fungal Pathogenesis  

PubMed Central

Fungi and oomycetes are the causal agents of many of the most serious diseases of plants. Here we report a detailed comparative analysis of the genome sequences of thirty-six species of fungi and oomycetes, including seven plant pathogenic species, that aims to explore the common genetic features associated with plant disease-causing species. The predicted translational products of each genome have been clustered into groups of potential orthologues using Markov Chain Clustering and the data integrated into the e-Fungi object-oriented data warehouse (http://www.e-fungi.org.uk/). Analysis of the species distribution of members of these clusters has identified proteins that are specific to filamentous fungal species and a group of proteins found only in plant pathogens. By comparing the gene inventories of filamentous, ascomycetous phytopathogenic and free-living species of fungi, we have identified a set of gene families that appear to have expanded during the evolution of phytopathogens and may therefore serve important roles in plant disease. We have also characterised the predicted set of secreted proteins encoded by each genome and identified a set of protein families which are significantly over-represented in the secretomes of plant pathogenic fungi, including putative effector proteins that might perturb host cell biology during plant infection. The results demonstrate the potential of comparative genome analysis for exploring the evolution of eukaryotic microbial pathogenesis.

Soanes, Darren M.; Alam, Intikhab; Cornell, Mike; Wong, Han Min; Hedeler, Cornelia; Paton, Norman W.; Rattray, Magnus; Hubbard, Simon J.; Oliver, Stephen G.; Talbot, Nicholas J.

2008-01-01

51

Genetic analysis of long-lived families reveals novel variants influencing high density-lipoprotein cholesterol  

PubMed Central

The plasma levels of high-density lipoprotein cholesterol (HDL) have an inverse relationship to the risks of atherosclerosis and cardiovascular disease (CVD), and have also been associated with longevity. We sought to identify novel loci for HDL that could potentially provide new insights into biological regulation of HDL metabolism in healthy-longevous subjects. We performed a genome-wide association (GWA) scan on HDL using a mixed model approach to account for family structure using kinship coefficients. A total of 4114 subjects of European descent (480 families) were genotyped at ~2.3 million SNPs and ~38 million SNPs were imputed using the 1000 Genome Cosmopolitan reference panel in MACH. We identified novel variants near-NLRP1 (17p13) associated with an increase of HDL levels at genome-wide significant level (p < 5.0E-08). Additionally, several CETP (16q21) and ZNF259-APOA5-A4-C3-A1 (11q23.3) variants associated with HDL were found, replicating those previously reported in the literature. A possible regulatory variant upstream of NLRP1 that is associated with HDL in these elderly Long Life Family Study (LLFS) subjects may also contribute to their longevity and health. Our NLRP1 intergenic SNPs show a potential regulatory function in Encyclopedia of DNA Elements (ENCODE); however, it is not clear whether they regulate NLRP1 or other more remote gene. NLRP1 plays an important role in the induction of apoptosis, and its inflammasome is critical for mediating innate immune responses. Nlrp1a (a mouse ortholog of human NLRP1) interacts with SREBP-1a (17p11) which has a fundamental role in lipid concentration and composition, and is involved in innate immune response in macrophages. The NLRP1 region is conserved in mammals, but also has evolved adaptively showing signals of positive selection in European populations that might confer an advantage. NLRP1 intergenic SNPs have also been associated with immunity/inflammasome disorders which highlights the biological importance of this chromosomal region.

Feitosa, Mary F.; Wojczynski, Mary K.; Straka, Robert; Kammerer, Candace M.; Lee, Joseph H.; Kraja, Aldi T.; Christensen, Kaare; Newman, Anne B.; Province, Michael A.; Borecki, Ingrid B.

2014-01-01

52

Plant members of a family of sulfate transporters reveal functional subtypes.  

PubMed

Three plant sulfate transporter cDNAs have been isolated by complementation of a yeast mutant with a cDNA library derived from the tropical forage legume Stylosanthes hamata. Two of these cDNAs, shst1 and shst2, encode high-affinity H+/sulfate cotransporters that mediate the uptake of sulfate by plant roots from low concentrations of sulfate in the soil solution. The third, shst3, represents a different subtype encoding a lower affinity H+/sulfate cotransporter, which may be involved in the internal transport of sulfate between cellular or subcellular compartments within the plant. The steady-state level of mRNA corresponding to both subtypes is subject to regulation by signals that ultimately respond to the external sulfate supply. These cDNAs represent the identification of plant members of a family of related sulfate transporter proteins whose sequences exhibit significant amino acid conservation in filamentous fungi, yeast, plants, and mammals. PMID:7568135

Smith, F W; Ealing, P M; Hawkesford, M J; Clarkson, D T

1995-09-26

53

Functional specialization among insect chitinase family genes revealed by RNA interference  

PubMed Central

The biological functions of individual members of the large family of chitinase-like proteins from the red flour beetle, Tribolium castaneum (Tc), were examined by using gene-specific RNAi. One chitinase, TcCHT5, was found to be required for pupal–adult molting only. A lethal phenotype was observed when the transcript level of TcCHT5 was down-regulated by injection of TcCHT5-specific dsRNA into larvae. The larvae had metamorphosed into pupae and then to pharate adults but did not complete adult eclosion. Specific knockdown of transcripts for another chitinase, TcCHT10, which has multiple catalytic domains, prevented embryo hatch, larval molting, pupation, and adult metamorphosis, indicating a vital role for TcCHT10 during each of these processes. A third chitinase-like protein, TcCHT7, was required for abdominal contraction and wing/elytra extension immediately after pupation but was dispensable for larval–larval molting, pupation, and adult eclosion. The wing/elytra abnormalities found in TcCHT7-silenced pupae were also manifest in the ensuing adults. A fourth chitinase-like protein, TcIDGF4, exhibited no chitinolytic activity but contributed to adult eclosion. No phenotypic effects were observed after knockdown of transcripts for several other chitinase-like proteins, including imaginal disk growth factor IDGF2. These data indicate functional specialization among insect chitinase family genes, primarily during the molting process, and provide a biological rationale for the presence of a large assortment of chitinase-like proteins.

Zhu, Qingsong; Arakane, Yasuyuki; Beeman, Richard W.; Kramer, Karl J.; Muthukrishnan, Subbaratnam

2008-01-01

54

Plant members of a family of sulfate transporters reveal functional subtypes.  

PubMed Central

Three plant sulfate transporter cDNAs have been isolated by complementation of a yeast mutant with a cDNA library derived from the tropical forage legume Stylosanthes hamata. Two of these cDNAs, shst1 and shst2, encode high-affinity H+/sulfate cotransporters that mediate the uptake of sulfate by plant roots from low concentrations of sulfate in the soil solution. The third, shst3, represents a different subtype encoding a lower affinity H+/sulfate cotransporter, which may be involved in the internal transport of sulfate between cellular or subcellular compartments within the plant. The steady-state level of mRNA corresponding to both subtypes is subject to regulation by signals that ultimately respond to the external sulfate supply. These cDNAs represent the identification of plant members of a family of related sulfate transporter proteins whose sequences exhibit significant amino acid conservation in filamentous fungi, yeast, plants, and mammals. Images Fig. 3 Fig. 4 Fig. 6

Smith, F W; Ealing, P M; Hawkesford, M J; Clarkson, D T

1995-01-01

55

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.  

PubMed

We recently identified 2 siblings afflicted with idiopathic, autosomal recessive aplastic anemia. Whole-exome sequencing identified a novel homozygous missense mutation in thrombopoietin (THPO, c.112C>T) in both affected siblings. This mutation encodes an arginine to cysteine substitution at residue 38 or residue 17 excluding the 21-amino acid signal peptide of THPO receptor binding domain (RBD). THPO has 4 conserved cysteines in its RBD that form 2 disulfide bonds. Our in silico modeling predicts that introduction of a fifth cysteine may disrupt normal disulfide bonding to cause poor receptor binding. In functional assays, the mutant-THPO-containing media shows two- to threefold reduced ability to sustain UT7-TPO cells, which require THPO for proliferation. Both parents and a sibling with heterozygous R17C change have reduced platelet counts, whereas a sibling with wild-type sequence has normal platelet count. Thus, the R17C partial loss-of-function allele results in aplastic anemia in the homozygous state and mild thrombocytopenia in the heterozygous state in our family. Together with the recent identification of THPO receptor (MPL) mutations and the effects of THPO agonists in aplastic anemia, our results have clinical implications in the diagnosis and treatment of patients with aplastic anemia and highlight a role for the THPO-MPL pathway in hematopoiesis in vivo. PMID:24085763

Dasouki, Majed J; Rafi, Syed K; Olm-Shipman, Adam J; Wilson, Nathan R; Abhyankar, Sunil; Ganter, Brigitte; Furness, L Mike; Fang, Jianwen; Calado, Rodrigo T; Saadi, Irfan

2013-11-14

56

Disruption of forkhead transcription factor (FOXO) family members in mice reveals their functional diversification  

PubMed Central

Genetic analysis in Caenorhabditis elegans has uncovered essential roles for DAF-16 in longevity, metabolism, and reproduction. The mammalian orthologs of DAF-16, the closely-related FOXO subclass of forkhead transcription factors (FKHR/FOXO1, FKHRL1/FOXO3a, and AFX/FOXO4), also have important roles in cell cycle arrest, apoptosis and stress responses in vitro, but their in vivo physiological roles are largely unknown. To elucidate their role in normal development and physiology, we disrupted each of the Foxo genes in mice. Foxo1-null embryos died on embryonic day 10.5 as a consequence of incomplete vascular development. Foxo1-null embryonic and yolk sac vessels were not well developed at embryonic day 9.5, and Foxo1 expression was found in a variety of embryonic vessels, suggesting a crucial role of this transcription factor in vascular formation. On the other hand, both Foxo3a- and Foxo4-null mice were viable and grossly indistinguishable from their littermate controls, indicating dispensability of these two members of the Foxo transcription factor family for normal vascular development. Foxo3a-null females showed age-dependent infertility and had abnormal ovarian follicular development. In contrast, histological analyses of Foxo4-null mice did not identify any consistent abnormalities. These results demonstrate that the physiological roles of Foxo genes are functionally diverse in mammals.

Hosaka, Taisuke; Biggs, William H.; Tieu, David; Boyer, Antonia D.; Varki, Nissi M.; Cavenee, Webster K.; Arden, Karen C.

2004-01-01

57

Family-wide characterization of matrix metalloproteinases from Arabidopsis thaliana reveals their distinct proteolytic activity and cleavage site specificity.  

PubMed

MMPs (matrix metalloproteases) are a family of zinc-dependent endopeptidases widely distributed throughout all kingdoms of life. In mammals, MMPs play key roles in many physiological and pathological processes, including remodelling of the extracellular matrix. In the genome of the annual plant Arabidopsis thaliana, five MMP-like proteins (At-MMPs) are encoded, but their function is unknown. Previous work on these enzymes was limited to gene expression analysis, and so far proteolytic activity has been shown only for At1-MMP. We expressed and purified the catalytic domains of all five At-MMPs as His-tagged proteins in Escherichia coli cells to delineate the biochemical differences and similarities among the Arabidopsis MMP family members. We demonstrate that all five recombinant At-MMPs are active proteases with distinct preferences for different protease substrates. Furthermore, we performed a family-wide characterization of their biochemical properties and highlight similarities and differences in their cleavage site specificities as well as pH- and temperature-dependent activities. Detailed analysis of their sequence specificity using PICS (proteomic identification of protease cleavage sites) revealed profiles similar to human MMPs with the exception of At5-MMP; homology models of the At-MMP catalytic domains supported these results. Our results suggest that each At-MMP may be involved in different proteolytic processes during plant growth and development. PMID:24156403

Marino, Giada; Huesgen, Pitter F; Eckhard, Ulrich; Overall, Christopher M; Schröder, Wolfgang P; Funk, Christiane

2014-01-15

58

Molecular phylogenetics reveals a pattern of biome conservatism in New World anchovies (family Engraulidae).  

PubMed

Evolutionary transitions between marine and freshwater biomes are relatively rare events, yielding a widespread pattern of biome conservatism among aquatic organisms. We investigated biome transitions in anchovies (Engraulidae), a globally distributed clade of economically important fishes. Most anchovy species are near-shore marine fishes, but several exclusively freshwater species are known from tropical rivers of South America and were previously thought to be the product of six or more independent freshwater invasions. We generated a comprehensive molecular phylogeny for Engraulidae, including representatives from 15 of 17 currently recognized genera. Our data support previous hypotheses of higher-level relationships within Engraulidae, but show that most New World genera are not monophyletic and in need of revision. Ancestral character reconstruction reveals that New World freshwater anchovies are the product of a single marine to freshwater transition, supporting a pattern of biome conservatism. We argue that competition is the principal mechanism that regulates aquatic biome transitions on a continental scale. PMID:22300535

Bloom, Devin D; Lovejoy, N R

2012-04-01

59

Reconstitution of a fungal meroterpenoid biosynthesis reveals the involvement of a novel family of terpene cyclases  

NASA Astrophysics Data System (ADS)

Meroterpenoids are hybrid natural products of both terpenoid and polyketide origin. We identified a biosynthetic gene cluster that is responsible for the production of the meroterpenoid pyripyropene in the fungus Aspergillus fumigatus through reconstituted biosynthesis of up to five steps in a heterologous fungal expression system. The cluster revealed a previously unknown terpene cyclase with an unusual sequence and protein primary structure. The wide occurrence of this sequence in other meroterpenoid and indole-diterpene biosynthetic gene clusters indicates the involvement of these enzymes in the biosynthesis of various terpenoid-bearing metabolites produced by fungi and bacteria. In addition, a novel polyketide synthase that incorporated nicotinyl-CoA as the starter unit and a prenyltransferase, similar to that in ubiquinone biosynthesis, was found to be involved in the pyripyropene biosynthesis. The successful production of a pyripyropene analogue illustrates the catalytic versatility of these enzymes for the production of novel analogues with useful biological activities.

Itoh, Takayuki; Tokunaga, Kinya; Matsuda, Yudai; Fujii, Isao; Abe, Ikuro; Ebizuka, Yutaka; Kushiro, Tetsuo

2010-10-01

60

Genes Similar to the Vibrio parahaemolyticus Virulence-Related Genes tdh, tlh, and vscC2 Occur in Other Vibrionaceae Species Isolated from a Pristine Estuary  

PubMed Central

Detection of the human pathogen Vibrio parahaemolyticus often relies on molecular biological analysis of species-specific virulence factor genes. These genes have been employed in determinations of V. parahaemolyticus population numbers and the prevalence of pathogenic V. parahaemolyticus strains. Strains of the Vibrionaceae species Photobacterium damselae, Vibrio diabolicus, Vibrio harveyi, and Vibrio natriegens, as well as strains similar to Vibrio tubiashii, were isolated from a pristine salt marsh estuary. These strains were examined for the V. parahaemolyticus hemolysin genes tdh, trh, and tlh and for the V. parahaemolyticus type III secretion system 2? gene vscC2 using established PCR primers and protocols. Virulence-related genes occurred at high frequencies in non-V. parahaemolyticus Vibrionaceae species. V. diabolicus was of particular interest, as several strains were recovered, and the large majority (>83%) contained virulence-related genes. It is clear that detection of these genes does not ensure correct identification of virulent V. parahaemolyticus. Further, the occurrence of V. parahaemolyticus-like virulence factors in other vibrios potentially complicates tracking of outbreaks of V. parahaemolyticus infections.

Klein, Savannah L.; Gutierrez West, Casandra K.; Mejia, Diana M.

2014-01-01

61

The Genomic Landscape of the Ewing Sarcoma Family of Tumors Reveals Recurrent STAG2 Mutation  

PubMed Central

The Ewing sarcoma family of tumors (EFT) is a group of highly malignant small round blue cell tumors occurring in children and young adults. We report here the largest genomic survey to date of 101 EFT (65 tumors and 36 cell lines). Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious mutations in the cohesin complex subunit STAG2 (21.5% tumors, 44.4% cell lines), homozygous deletion of CDKN2A (13.8% and 50%) and mutations of TP53 (6.2% and 71.9%). We additionally note an increased prevalence of the BRCA2 K3326X polymorphism in EFT patient samples (7.3%) compared to population data (OR 7.1, p?=?0.006). Using whole transcriptome sequencing, we find that 11% of tumors pathologically diagnosed as EFT lack a typical EWSR1 fusion oncogene and that these tumors do not have a characteristic Ewing sarcoma gene expression signature. We identify samples harboring novel fusion genes including FUS-NCATc2 and CIC-FOXO4 that may represent distinct small round blue cell tumor variants. In an independent EFT tissue microarray cohort, we show that STAG2 loss as detected by immunohistochemistry may be associated with more advanced disease (p?=?0.15) and a modest decrease in overall survival (p?=?0.10). These results significantly advance our understanding of the genomic and molecular underpinnings of Ewing sarcoma and provide a foundation towards further efforts to improve diagnosis, prognosis, and precision therapeutics testing.

Brohl, Andrew S.; Solomon, David A.; Chang, Wendy; Wang, Jianjun; Song, Young; Sindiri, Sivasish; Patidar, Rajesh; Hurd, Laura; Chen, Li; Shern, Jack F.; Liao, Hongling; Wen, Xinyu; Gerard, Julia; Kim, Jung-Sik; Lopez Guerrero, Jose Antonio; Machado, Isidro; Wai, Daniel H.; Picci, Piero; Triche, Timothy; Horvai, Andrew E.; Miettinen, Markku; Wei, Jun S.; Catchpool, Daniel; Llombart-Bosch, Antonio; Waldman, Todd; Khan, Javed

2014-01-01

62

Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons.  

PubMed

Familial dysautonomia (FD) is a devastating developmental and progressive peripheral neuropathy caused by a mutation in the gene inhibitor of kappa B kinase complex-associated protein (IKBKAP). To identify the cellular and molecular mechanisms that cause FD, we generated mice in which Ikbkap expression is ablated in the peripheral nervous system and identify the steps in peripheral nervous system development that are Ikbkap-dependent. We show that Ikbkap is not required for trunk neural crest migration or pathfinding, nor for the formation of dorsal root or sympathetic ganglia, or the adrenal medulla. Instead, Ikbkap is essential for the second wave of neurogenesis during which the majority of tropomyosin-related kinase A (TrkA(+)) nociceptors and thermoreceptors arise. In its absence, approximately half the normal complement of TrkA(+) neurons are lost, which we show is partly due to p53-mediated premature differentiation and death of mitotically-active progenitors that express the paired-box gene Pax3 and give rise to the majority of TrkA(+) neurons. By the end of sensory development, the number of TrkC neurons is significantly increased, which may result from an increase in Runx3(+) cells. Furthermore, our data demonstrate that TrkA(+) (but not TrkC(+)) sensory and sympathetic neurons undergo exacerbated Caspase 3-mediated programmed cell death in the absence of Ikbkap and that this death is not due to a reduction in nerve growth factor synthesis. In summary, these data suggest that FD does not result from a failure in trunk neural crest migration, but rather from a critical function for Ikbkap in TrkA progenitors and TrkA(+) neurons. PMID:24173031

George, Lynn; Chaverra, Marta; Wolfe, Lindsey; Thorne, Julian; Close-Davis, Mattheson; Eibs, Amy; Riojas, Vickie; Grindeland, Andrea; Orr, Miranda; Carlson, George A; Lefcort, Frances

2013-11-12

63

Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons  

PubMed Central

Familial dysautonomia (FD) is a devastating developmental and progressive peripheral neuropathy caused by a mutation in the gene inhibitor of kappa B kinase complex-associated protein (IKBKAP). To identify the cellular and molecular mechanisms that cause FD, we generated mice in which Ikbkap expression is ablated in the peripheral nervous system and identify the steps in peripheral nervous system development that are Ikbkap-dependent. We show that Ikbkap is not required for trunk neural crest migration or pathfinding, nor for the formation of dorsal root or sympathetic ganglia, or the adrenal medulla. Instead, Ikbkap is essential for the second wave of neurogenesis during which the majority of tropomyosin-related kinase A (TrkA+) nociceptors and thermoreceptors arise. In its absence, approximately half the normal complement of TrkA+ neurons are lost, which we show is partly due to p53-mediated premature differentiation and death of mitotically-active progenitors that express the paired-box gene Pax3 and give rise to the majority of TrkA+ neurons. By the end of sensory development, the number of TrkC neurons is significantly increased, which may result from an increase in Runx3+ cells. Furthermore, our data demonstrate that TrkA+ (but not TrkC+) sensory and sympathetic neurons undergo exacerbated Caspase 3-mediated programmed cell death in the absence of Ikbkap and that this death is not due to a reduction in nerve growth factor synthesis. In summary, these data suggest that FD does not result from a failure in trunk neural crest migration, but rather from a critical function for Ikbkap in TrkA progenitors and TrkA+ neurons.

George, Lynn; Chaverra, Marta; Wolfe, Lindsey; Thorne, Julian; Close-Davis, Mattheson; Eibs, Amy; Riojas, Vickie; Grindeland, Andrea; Orr, Miranda; Carlson, George A.; Lefcort, Frances

2013-01-01

64

Crystal structure of Vibrionaceae Photobacterium sp. JT-ISH-224 alpha2,6-sialyltransferase in a ternary complex with donor product CMP and acceptor substrate lactose: catalytic mechanism and substrate recognition.  

PubMed

Sialyltransferases are a family of glycosyltransferases that catalyze the transfer of N-acetylneuraminic acid residues from cytidine monophosphate N-acetylneuraminic acid (CMP-NeuAc) as a donor substrate to the carbohydrate groups of glycoproteins and glycolipids as acceptor substrates. We determined the crystal structure of Delta16psp26ST, the N-terminal truncated form of alpha2,6-sialyltransferase from Vibrionaceae Photobacterium sp. JT-ISH-224, complexed with a donor product CMP and an acceptor substrate lactose. Delta16psp26ST has three structural domains. Domain 1 belongs to the immunoglobulin-like beta-sandwich fold, and domains 2 and 3 form the glycosyltransferase-B structure. The CMP and lactose were bound in the deep cleft between domains 2 and 3. In the structure, only Asp232 was within hydrogen-binding distance of the acceptor O6 carbon of the galactose residue in lactose, and His405 was within hydrogen-binding distance of the phosphate oxygen of CMP. Mutation of these residues greatly decreased the activity of the enzyme. These structural and mutational results indicated that Asp232 might act as a catalytic base for deprotonation of the acceptor substrate, and His405 might act as a catalytic acid for protonation of the donor substrate. These findings are consistent with an in-line-displacement reaction mechanism in which Delta16psp26ST catalyzes the inverting transfer reaction. Unlike the case with multifunctional sialyltransferase (Delta24PmST1) complexed with CMP and lactose, the crystal structure of which was recently reported, the alpha2,6 reaction specificity of Delta16psp26ST is likely to be determined by His123. PMID:17962295

Kakuta, Yoshimitsu; Okino, Nozomu; Kajiwara, Hitomi; Ichikawa, Masako; Takakura, Yoshimitsu; Ito, Makoto; Yamamoto, Takeshi

2008-01-01

65

Genome-Wide Analysis of the Dof Transcription Factor Gene Family Reveals Soybean-Specific Duplicable and Functional Characteristics  

PubMed Central

The Dof domain protein family is a classic plant-specific zinc-finger transcription factor family involved in a variety of biological processes. There is great diversity in the number of Dof genes in different plants. However, there are only very limited reports on the characterization of Dof transcription factors in soybean (Glycine max). In the present study, 78 putative Dof genes were identified from the whole-genome sequence of soybean. The predicted GmDof genes were non-randomly distributed within and across 19 out of 20 chromosomes and 97.4% (38 pairs) were preferentially retained duplicate paralogous genes located in duplicated regions of the genome. Soybean-specific segmental duplications contributed significantly to the expansion of the soybean Dof gene family. These Dof proteins were phylogenetically clustered into nine distinct subgroups among which the gene structure and motif compositions were considerably conserved. Comparative phylogenetic analysis of these Dof proteins revealed four major groups, similar to those reported for Arabidopsis and rice. Most of the GmDofs showed specific expression patterns based on RNA-seq data analyses. The expression patterns of some duplicate genes were partially redundant while others showed functional diversity, suggesting the occurrence of sub-functionalization during subsequent evolution. Comprehensive expression profile analysis also provided insights into the soybean-specific functional divergence among members of the Dof gene family. Cis-regulatory element analysis of these GmDof genes suggested diverse functions associated with different processes. Taken together, our results provide useful information for the functional characterization of soybean Dof genes by combining phylogenetic analysis with global gene-expression profiling.

Guo, Yong; Qiu, Li-Juan

2013-01-01

66

Characterization of the PRMT Gene Family in Rice Reveals Conservation of Arginine Methylation  

PubMed Central

Post-translational methylation of arginine residues profoundly affects the structure and functions of protein and, hence, implicated in a myriad of essential cellular processes such as signal transduction, mRNA splicing and transcriptional regulation. Protein arginine methyltransferases (PRMTs), the enzymes catalyzing arginine methylation have been extensively studied in animals, yeast and, to some extent, in model plant Arabidopsis thaliana. Eight genes coding for the PRMTs were identified in Oryza sativa, previously. Here, we report that these genes show distinct expression patterns in various parts of the plant. In vivo targeting experiment demonstrated that GFP-tagged OsPRMT1, OsPRMT5 and OsPRMT10 were localized to both the cytoplasm and nucleus, whereas OsPRMT6a and OsPRMT6b were predominantly localized to the nucleus. OsPRMT1, OsPRMT4, OsPRMT5, OsPRMT6a, OsPRMT6b and OsPRMT10 exhibited in vitro arginine methyltransferase activity against myelin basic protein, glycine-arginine-rich domain of fibrillarin and calf thymus core histones. Furthermore, they depicted specificities for the arginine residues in histones H3 and H4 and were classified into type I and Type II PRMTs, based on the formation of type of dimethylarginine in the substrate proteins. The two homologs of OsPRMT6 showed direct interaction in vitro and further titrating different amounts of these proteins in the methyltransferase assay revealed that OsPRMT6a inhibits the methyltransferase activity of OsPRMT6b, probably, by the formation of heterodimer. The identification and characterization of PRMTs in rice suggests the conservation of arginine methylation in monocots and hold promise for gaining further insight into regulation of plant development.

Cao, Xiaofeng

2011-01-01

67

Chimeric mouse tumor models reveal differences in pathway activation between ERBB family- and KRAS-dependent lung adenocarcinomas.  

PubMed

To recapitulate the stochastic nature of human cancer development, we have devised a strategy for generating mouse tumor models that involves stepwise genetic manipulation of embryonic stem (ES) cells and chimera generation. Tumors in the chimeric animals develop from engineered cells in the context of normal tissue. Adenocarcinomas arising in an allelic series of lung cancer models containing HER2 (also known as ERBB2), KRAS or EGFR oncogenes exhibit features of advanced malignancies. Treatment of EGFR(L858R) and KRAS(G12V) chimeric models with an EGFR inhibitor resulted in near complete tumor regression and no response to the treatment, respectively, accurately reflecting previous clinical observations. Transcriptome and immunohistochemical analyses reveal that PI3K pathway activation is unique to ERBB family tumors whereas KRAS-driven tumors show activation of the JNK/SAP pathway, suggesting points of therapeutic intervention for this difficult-to-treat tumor category. PMID:20023657

Zhou, Yinghui; Rideout, William M; Zi, Tong; Bressel, Angela; Reddypalli, Shailaja; Rancourt, Rebecca; Woo, Jin-Kyeung; Horner, James W; Chin, Lynda; Chiu, M Isabel; Bosenberg, Marcus; Jacks, Tyler; Clark, Steven C; Depinho, Ronald A; Robinson, Murray O; Heyer, Joerg

2010-01-01

68

Extensive Expansion of A1 Family Aspartic Proteinases in Fungi Revealed by Evolutionary Analyses of 107 Complete Eukaryotic Proteomes  

PubMed Central

The A1 family of eukaryotic aspartic proteinases (APs) forms one of the 16 AP families. Although one of the best characterized families, the recent increase in genome sequence data has revealed many fungal AP homologs with novel sequence characteristics. This study was performed to explore the fungal AP sequence space and to obtain an in-depth understanding of fungal AP evolution. Using a comprehensive phylogeny of approximately 700 AP sequences from the complete proteomes of 87 fungi and 20 nonfungal eukaryotes, 11 major clades of APs were defined of which clade I largely corresponds to the A1A subfamily of pepsin-archetype APs. Clade II largely corresponds to the A1B subfamily of nepenthesin-archetype APs. Remarkably, the nine other clades contain only fungal APs, thus indicating that fungal APs have undergone a large sequence diversification. The topology of the tree indicates that fungal APs have been subject to both “birth and death” evolution and “functional redundancy and diversification.” This is substantiated by coclustering of certain functional sequence characteristics. A meta-analysis toward the identification of Cluster Determining Positions (CDPs) was performed in order to investigate the structural and biochemical basis for diversification. Seven CDPs contribute to the secondary structure of the enzyme. Three other CDPs are found in the vicinity of the substrate binding cleft. Tree topology, the large sequence variation among fungal APs, and the apparent functional diversification suggest that an amendment to update the current A1 AP classification based on a comprehensive phylogenetic clustering might contribute to refinement of the classification in the MEROPS peptidase database.

Revuelta, Maria V.; van Kan, Jan A.L.; Kay, John; ten Have, Arjen

2014-01-01

69

Comprehensive Analysis of ETS Family Members in Melanoma by Fluorescence In Situ Hybridization Reveals Recurrent ETV1 Amplification.  

PubMed

E26 transformation-specific (ETS) transcription factors are known to be involved in gene aberrations in various malignancies including prostate cancer; however, their role in melanoma oncogenesis has yet to be fully explored. We have completed a comprehensive fluorescence in situ hybridization (FISH)-based screen for all 27 members of the ETS transcription factor family on two melanoma tissue microarrays, representing 223 melanomas, 10 nevi, and 5 normal skin tissues. None of the melanoma cases demonstrated ETS fusions; however, 6 of 114 (5.3%) melanomas were amplified for ETV1 using a break-apart FISH probe. For the six positive cases, locus-controlled FISH probes revealed that two of six cases were amplified for the ETV1 region, whereas four cases showed copy gains of the entire chromosome 7. The remaining 26 ETS family members showed no chromosomal aberrations by FISH. Quantitative polymerase chain reaction showed an average 3.4-fold (P value = .00218) increased expression of ETV1 in melanomas, including the FISH ETV1-amplified cases, when compared to other malignancies (prostate, breast, and bladder carcinomas). These data suggest that a subset of melanomas overexpresses ETV1 and amplification of ETV1 may be one mechanism for achieving high gene expression. PMID:23908683

Mehra, Rohit; Dhanasekaran, Saravana M; Palanisamy, Nallasivam; Vats, Pankaj; Cao, Xuhong; Kim, Jung H; Kim, David Sl; Johnson, Timothy; Fullen, Douglas R; Chinnaiyan, Arul M

2013-08-01

70

Cell transformation by v-Rel reveals distinct roles of AP-1 family members in Rel/NF-?B oncogenesis  

PubMed Central

Cell transformation by the v-rel oncogene is mediated by the aberrant expression of genes that are normally tightly regulated by other Rel/NF-?B family members. Although a number of genes inappropriately activated or suppressed by v-Rel have been identified, their contributions to the v-Rel transformation process have been poorly characterized. Here, we examine the role of individual AP-1 proteins in v-Rel-mediated transformation. v-Rel transformed cells exhibit elevated RNA and protein expression of c-Fos, c-Jun, and ATF2 and sustained repression of Fra-2. c-Fos and c-Jun are essential in both the initiation and maintenance of v-Rel-mediated transformation while Fra-2 is dispensable. By employing a c-Jun dimerization mutant, we further identified Fos:Jun heterodimers as major contributors to the v-Rel transformation process. The inability of c-Rel to induce the expression of c-Fos and c-Jun contributes to its weaker oncogenic potential relative to v-Rel. Our studies also demonstrate that v-Rel may induce AP-1 members by directly upregulating gene expression (c-fos and ATF2) and by activating pathways that stimulate AP-1 activity. While elevated expression of ATF2 is also required for v-Rel-mediated transformation, its ectopic overexpression is inhibitory. Investigating the mode of ATF2 regulation revealed a positive feedback mechanism whereby ATF2 induces p38 MAPK phosphorylation to further induce its own activity. In addition, these studies identified Ha-Ras as an effector of v-Rel mediated transformation and reveal a novel role for ATF2 in the inhibition of the Ras-Raf-MEK-ERK signaling pathway. Overall, these studies reveal distinct and complex roles of AP-1 proteins in Rel/NF-?B oncogenesis.

Liss, Andrew S.; Tiwari, Richa; Kralova, Jarmila; Bose, Henry R.

2010-01-01

71

Computational identification of post-translational modification sites and functional families reveal possible moonlighting role of rotaviral proteins  

PubMed Central

Rotavirus (RV) diarrhoea causes huge number deaths in children less than 5 years of age. In spite of available vaccines, it has been difficult to combat RV due to large number of antigenically distinct genotypes, high mutation rates, generation of reassortant viruses due to segmented genome. RV is an eukaryotic virus which utilizes host cell machinery for its propagation. Since RV only encodes 12 proteins, post­translational modification (PTM) is important mechanism for modification, which consequently alters their function. A single protein exhibiting different functions in different locations or in different subcellular sites, are known to be ’moonlighting‘. So there is a possibility that viral proteins moonlight in separate location and in different time to exhibit diverse cellular effects. Based on the primary sequence, the putative behaviour of proteins in cellular environment can be predicted, which helps to classify them into different functional families with high reliability score. In this study, sites for phosphorylation, glycosylation and SUMOylation of the six RV structural proteins (VP1, VP2, VP3, VP4, VP6 & VP7) & five non­structural proteins (NSP1, NSP2,NSP3,NSP4 & NSP5) and the functional families were predicted. As NSP6 is a very small protein and not required for virus growth & replication, it was not included in the study. Classification of RV proteins revealed multiple putative functions of each structural protein and varied number of PTM sites, indicating that RV proteins may also moonlight depending on requirements during viral life cycle. Targeting the crucial PTM sites on RV structural proteins may have implications in developing future anti­rotaviral strategies.

Chattopadhyay, Shiladitya; Bagchi, Parikshit; Dutta, Dipanjan; Mukherjee, Anupam; Kobayashi, Nobumichi; Chawlasarkar, Mamta

2010-01-01

72

Independent HHsearch, Needleman--Wunsch-based, and motif analyses reveal the overall hierarchy for most of the G protein-coupled receptor families.  

PubMed

Several families of G protein-coupled receptors (GPCRs) show no significant sequence similarities to each other, and it has been debated which of them share a common origin. We developed and performed integrated and independent HHsearch, Needleman--Wunsch-based and motif analyses on more than 6,600 unique GPCRs from 12 species. Moreover, we mined the evolutionary important Trichoplax adhaerens, Nematostella vectensis, Thalassiosira pseudonana, and Strongylocentrotus purpuratus genomes, revealing remarkably rich vertebrate-like GPCR repertoires already in the early Metazoan species. We found strong evidence that the Adhesion and Frizzled families are children to the cyclic AMP (cAMP) family with HHsearch homology probabilities of 99.8% and 99.4%, respectively, also supported by the Needleman--Wunsch analysis and several motifs. We also found that the large Rhodopsin family is likely a child of the cAMP family with an HHsearch homology probability of 99.4% and conserved motifs. Therefore, we suggest that the Adhesion and Frizzled families originated from the cAMP family in an event close to that which gave rise to the Rhodopsin family. We also found convincing evidence that the Rhodopsin family is parent to the important sensory families; Taste 2 and Vomeronasal type 1 as well as the Nematode chemoreceptor families. The insect odorant, gustatory, and Trehalose receptors, frequently referred to as GPCRs, form a separate cluster without relationship to the other families, and we propose, based on these and others' results, that these families are ligand-gated ion channels rather than GPCRs. Overall, we suggest common descent of at least 97% of the GPCRs sequences found in humans. PMID:21402729

Nordström, Karl J V; Sällman Almén, Markus; Edstam, Monika M; Fredriksson, Robert; Schiöth, Helgi B

2011-09-01

73

Novel Family of Carbohydrate-Binding Modules Revealed by the Genome Sequence of Spirochaeta thermophila DSM 6192 ? †  

PubMed Central

Spirochaeta thermophila is a thermophilic, free-living, and cellulolytic anaerobe. The genome sequence data for this organism have revealed a high density of genes encoding enzymes from more than 30 glycoside hydrolase (GH) families and a noncellulosomal enzyme system for (hemi)cellulose degradation. Functional screening of a fosmid library whose inserts were mapped on the S. thermophila genome sequence allowed the functional annotation of numerous GH open reading frames (ORFs). Seven different GH ORFs from the S. thermophila DSM 6192 genome, all putative ?-glycanase ORFs according to sequence similarity analysis, contained a highly conserved novel GH-associated module of unknown function at their C terminus. Four of these GH enzymes were experimentally verified as xylanase, ?-glucanase, ?-glucanase/carboxymethylcellulase (CMCase), and CMCase. Binding experiments performed with the recombinantly expressed and purified GH-associated module showed that it represents a new carbohydrate-binding module (CBM) that binds to microcrystalline cellulose and is highly specific for this substrate. In the course of this work, the new CBM type was only detected in Spirochaeta, but recently we found sequences with detectable similarity to the module in the draft genomes of Cytophaga fermentans and Mahella australiensis, both of which are phylogenetically very distant from S. thermophila and noncellulolytic, yet inhabit similar environments. This suggests a possibly broad distribution of the module in nature.

Angelov, Angel; Loderer, Christoph; Pompei, Susanne; Liebl, Wolfgang

2011-01-01

74

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

PubMed Central

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.

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

2008-01-01

75

NMR spectroscopic analysis reveals extensive binding interactions of complex xyloglucan oligosaccharides with the Cellvibrio japonicus glycoside hydrolase family 31 ?-xylosidase.  

PubMed

The study of the interaction of glycoside hydrolases with their substrates is fundamental to diverse applications in medicine, food and feed production, and biomass-resource utilization. Recent molecular modeling of the ?-xylosidase CjXyl31A from the soil saprophyte Cellvibrio japonicus, together with protein crystallography and enzyme-kinetic analysis, has suggested that an appended PA14 protein domain, unique among glycoside hydrolase family 31 members, may confer specificity for large oligosaccharide fragments of the ubiquitous plant polysaccharide xyloglucan (J. Larsbrink, A. Izumi, F.M. Ibatullin, A. Nakhai, H.J. Gilbert, G.J. Davies, H. Brumer, Biochem. J. 2011, 436, 567-580). In the present study, a combination of NMR spectroscopic techniques, including saturation transfer difference (STD) and transfer NOE (TR-NOE) spectroscopy, was used to reveal extensive interactions between CjXyl31A active-site variants and xyloglucan hexa- and heptasaccharides. The data specifically indicate that the enzyme recognizes the entire cello-tetraosyl backbone of the substrate and product in positive enzyme subsites and makes further significant interactions with internal pendant ?-(1?6)-linked xylosyl units. As such, the present analysis provides an important rationalization of previous kinetic data on CjXyl31A and unique insight into the role of the PA14 domain, which was not otherwise obtainable by protein crystallography. PMID:22961810

Silipo, Alba; Larsbrink, Johan; Marchetti, Roberta; Lanzetta, Rosa; Brumer, Harry; Molinaro, Antonio

2012-10-15

76

Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis  

Microsoft Academic Search

We have mainly used 3 highly polymorphic DNA markers, 3'HVR (D16S85), 16AC2.5 (D16S291) and SM7 (D16S283), flanking the PKD1 region on chromosome 16p13.3 to establish linkage status in seven Icelandic families with autosomal dominant polycystic kidney disease (ADPKD). In four families, the disease locus is in the PKD1 region, and three families are “unlinked” to chromosome 16p13.3. In one of

Ragnheiđur Fossdal; Magnus Böđarsson; Páll Ásmundsson; Jóhann Ragnarsson; Dorien Peters; Martijn H. Breuning; Ólafur Jensson

1993-01-01

77

Comparative and Evolutionary Analysis of the HES/HEY Gene Family Reveal Exon/Intron Loss and Teleost Specific Duplication Events  

PubMed Central

Background HES/HEY genes encode a family of basic helix-loop-helix (bHLH) transcription factors with both bHLH and Orange domain. HES/HEY proteins are direct targets of the Notch signaling pathway and play an essential role in developmental decisions, such as the developments of nervous system, somitogenesis, blood vessel and heart. Despite their important functions, the origin and evolution of this HES/HEY gene family has yet to be elucidated. Methods and Findings In this study, we identified genes of the HES/HEY family in representative species and performed evolutionary analysis to elucidate their origin and evolutionary process. Our results showed that the HES/HEY genes only existed in metazoans and may originate from the common ancestor of metazoans. We identified HES/HEY genes in more than 10 species representing the main lineages. Combining the bHLH and Orange domain sequences, we constructed the phylogenetic trees by different methods (Bayesian, ML, NJ and ME) and classified the HES/HEY gene family into four groups. Our results indicated that this gene family had undergone three expansions, which were along with the origins of Eumetazoa, vertebrate, and teleost. Gene structure analysis revealed that the HES/HEY genes were involved in exon and/or intron loss in different species lineages. Genes of this family were duplicated in bony fishes and doubled than other vertebrates. Furthermore, we studied the teleost-specific duplications in zebrafish and investigated the expression pattern of duplicated genes in different tissues by RT-PCR. Finally, we proposed a model to show the evolution of this gene family with processes of expansion, exon/intron loss, and motif loss. Conclusions Our study revealed the evolution of HES/HEY gene family, the expression and function divergence of duplicated genes, which also provide clues for the research of Notch function in development. This study shows a model of gene family analysis with gene structure evolution and duplication.

Ma, Zhaowu; Zhou, Yang; Abbood, Nibras Najm; Liu, Jianfeng; Su, Li; Jia, Haibo; Guo, An-Yuan

2012-01-01

78

Reversal to air-driven sound production revealed by a molecular phylogeny of tongueless frogs, family Pipidae  

PubMed Central

Background Evolutionary novelties often appear by conferring completely new functions to pre-existing structures or by innovating the mechanism through which a particular function is performed. Sound production plays a central role in the behavior of frogs, which use their calls to delimit territories and attract mates. Therefore, frogs have evolved complex vocal structures capable of producing a wide variety of advertising sounds. It is generally acknowledged that most frogs call by moving an air column from the lungs through the glottis with the remarkable exception of the family Pipidae, whose members share a highly specialized sound production mechanism independent of air movement. Results Here, we performed behavioral observations in the poorly known African pipid genus Pseudhymenochirus and document that the sound production in this aquatic frog is almost certainly air-driven. However, morphological comparisons revealed an indisputable pipid nature of Pseudhymenochirus larynx. To place this paradoxical pattern into an evolutionary framework, we reconstructed robust molecular phylogenies of pipids based on complete mitochondrial genomes and nine nuclear protein-coding genes that coincided in placing Pseudhymenochirus nested among other pipids. Conclusions We conclude that although Pseudhymenochirus probably has evolved a reversal to the ancestral non-pipid condition of air-driven sound production, the mechanism through which it occurs is an evolutionary innovation based on the derived larynx of pipids. This strengthens the idea that evolutionary solutions to functional problems often emerge based on previous structures, and for this reason, innovations largely depend on possibilities and constraints predefined by the particular history of each lineage.

2011-01-01

79

Protein Homology Network Families Reveal Step-Wise Diversification of Type III and Type IV Secretion Systems  

PubMed Central

From the analysis of 251 prokaryotic genomes stored in public databases, the 761,260 deduced proteins were used to reconstruct a complete set of bacterial proteic families. Using the new Overlap algorithm, we have partitioned the Protein Homology Network (PHN), where the proteins are the nodes and the links represent homology relationships. The algorithm identifies the densely connected regions of the PHN that define the families of homologous proteins, here called PHN-Families, recognizing the phylogenetic relationships embedded in the network. By direct comparison with a manually curated dataset, we assessed that this classification algorithm generates data of quality similar to a human expert. Then, we explored the network to identify families involved in the assembly of Type III and Type IV secretion systems (T3SS and T4SS). We noticed that, beside a core of conserved functions (eight proteins for T3SS, seven for T4SS), a variable set of accessory components is always present (one to nine for T3SS, one to five for T4SS). Each member of the core corresponds to a single PHN-Family, while accessory proteins are distributed among different pure families. The PHN-Family classification suggests that T3SS and T4SS have been assembled through a step-wise, discontinuous process, by complementing the conserved core with subgroups of nonconserved proteins. Such genetic modules, independently recruited and probably tuned on specific effectors, contribute to the functional specialization of these organelles to different microenvironments.

Medini, Duccio; Covacci, Antonello; Donati, Claudio

2006-01-01

80

A comparative genome analysis of PME and PMEI families reveals the evolution of pectin metabolism in plant cell walls.  

PubMed

Pectins are fundamental polysaccharides in the plant primary cell wall. Pectins are synthesized and secreted to cell walls as highly methyl-esterified polymers and then demethyl-esterified by pectin methylesterases (PMEs), which are spatially regulated by pectin methylesterase inhibitors (PMEIs). Although PME and PMEI genes are pivotal in plant cell wall formation, few studies have focused on the evolutionary patterns of the PME and PMEI gene families. In this study, the gene origin, evolution, and expression diversity of these two families were systematically analyzed using 11 representative species, including algae, bryophytes, lycophytes and flowering land plants. The results show that 1) for the two subfamilies (PME and proPME) of PME, the origin of the PME subfamily is consistent with the appearance of pectins in early charophyte cell walls, 2) Whole genome duplication (WGD) and tandem duplication contribute to the expansion of proPME and PMEI families in land plants, 3) Evidence of selection pressure shows that the proPME and PMEI families have rapidly evolved, particularly the PMEI family in vascular plants, and 4) Comparative expression profile analysis of the two families indicates that the eudicot Arabidopsis and monocot rice have different expression patterns. In addition, the gene structure and sequence analyses show that the origin of the PMEI domain may be derived from the neofunctionalization of the pro domain after WGD. This study will advance the evolutionary understanding of the PME and PMEI families and plant cell wall development. PMID:23951288

Wang, Maojun; Yuan, Daojun; Gao, Wenhui; Li, Yang; Tan, Jiafu; Zhang, Xianlong

2013-01-01

81

Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy\\/dysplasia reveals a need to broaden diagnostic criteria  

Microsoft Academic Search

ObjectivesWe sought to ascertain the prevalence and mode of expression of familial disease in a consecutive series of patients with arrhythmogenic right ventricular cardiomyopathy\\/dysplasia (ARVC\\/D).

M. Shoaib Hamid; Mark Norman; Asifa Quraishi; Sami Firoozi; Rajesh Thaman; Juan R Gimeno; Bhavesh Sachdev; Edward Rowland; Perry M Elliott; William J McKenna

2002-01-01

82

A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes  

Microsoft Academic Search

A family exhibiting heteroplasmy at position 16?355 in hypervariable region I of the human mtDNA control region has been\\u000a identified. This family consists of a mother, daughter, and son. DNA samples extracted from blood stains, buccal swabs, and\\u000a hairs from these individuals were amplified by PCR and sequenced utilizing fluoresence-labeled dye terminator chemistry in\\u000a an automated DNA sequencer. In both

Mark R. Wilson; Deborah Polanskey; Jeri Replogle; Joseph A. DiZinno; Bruce Budowle

1997-01-01

83

An insight into the sialome of Anopheles funestus reveals an emerging pattern in anopheline salivary protein families  

PubMed Central

Anopheles funestus, together with Anopheles gambiae, is responsible for most malaria transmission in sub-Saharan Africa, but little is known about molecular aspects of its biology. To investigate the salivary repertoire of this mosquito, we randomly sequenced 916 clones from a salivary-gland cDNA library from adult female F1 offspring of field-caught An. funestus. Thirty-three protein sequences, mostly full-length transcripts, are predicted to be secreted salivary proteins. We additionally describe 25 full-length housekeeping-associated transcripts. In accumulating mosquito sialotranscriptome information—which includes An. gambiae, Anopheles stephensi, Anopheles darlingi, Aedes aegypti, Aedes albopictus, Culex pipiens quinquefasciatus, and now An. funestus—a pattern is emerging. First, ubiquitous protein families are recruited for a salivary role, such as members of the antigen-5 family and enzymes of nucleotide and carbohydrate catabolism. Second, a group of protein families exclusive to blood-feeding Nematocera includes the abundantly expressed D7 proteins also found in sand flies and Culicoides. A third group of proteins, only found in Culicidae, includes the 30-kDa allergen family and several mucins. Finally, ten protein and peptide families, five of them multigenic, are exclusive to anophelines. Among these proteins may reside good epidemiological markers to measure human exposure to anopheline species such as An. funestus and An. gambiae.

Calvo, Eric; Dao, Adama; Pham, Van M.; Ribeiro, Jose M. C.

2007-01-01

84

The structure of the first representative of Pfam family PF06475 reveals a new fold with possible involvement in glycolipid metabolism  

PubMed Central

The crystal structure of PA1994 from Pseudomonas aeruginosa, a member of the Pfam PF06475 family classified as a domain of unknown function (DUF1089), reveals a novel fold comprising a 15-stranded ?-sheet wrapped around a single ?-helix that assembles into a tight dimeric arrangement. The remote structural similarity to lipoprotein localization factors, in addition to the presence of an acidic pocket that is conserved in DUF1089 homologs, phospholipid-binding and sugar-binding proteins, indicate a role for PA1994 and the DUF1089 family in glycolipid metabolism. Genome-context analysis lends further support to the involvement of this family of proteins in glycolipid metabolism and indicates possible activation of DUF1089 homologs under conditions of bacterial cell-wall stress or host–pathogen interactions.

Bakolitsa, Constantina; Kumar, Abhinav; McMullan, Daniel; Krishna, S. Sri; Miller, Mitchell D.; Carlton, Dennis; Najmanovich, Rafael; Abdubek, Polat; Astakhova, Tamara; Chiu, Hsiu-Ju; Clayton, Thomas; Deller, Marc C.; Duan, Lian; Elias, Ylva; Feuerhelm, Julie; Grant, Joanna C.; Grzechnik, Slawomir K.; Han, Gye Won; Jaroszewski, Lukasz; Jin, Kevin K.; Klock, Heath E.; Knuth, Mark W.; Kozbial, Piotr; Marciano, David; Morse, Andrew T.; Nigoghossian, Edward; Okach, Linda; Oommachen, Silvya; Paulsen, Jessica; Reyes, Ron; Rife, Christopher L.; Trout, Christina V.; van den Bedem, Henry; Weekes, Dana; White, Aprilfawn; Xu, Qingping; Hodgson, Keith O.; Wooley, John; Elsliger, Marc-Andre; Deacon, Ashley M.; Godzik, Adam; Lesley, Scott A.; Wilson, Ian A.

2010-01-01

85

A population- and family-based study of Canadian families reveals association of HLA DRB1*0103 with colonic involvement in inflammatory bowel disease.  

PubMed

The aim of this study was to identify major histocompatibility complex alleles associated with the development and clinical features of inflammatory bowel disease (IBD). Genotyping at the human leukocyte antigen (HLA) DRB1 and DQB1 loci was performed on individuals from 118 Caucasian IBD sibling pair families and on 216 healthy controls. Both population- and family-based association tests were used to analyze data obtained on the entire study population and on clinical subgroups stratified by diagnosis, ethnicity, and disease distribution. HLA DRB1*0103 was significantly associated with IBD (OR = 6.0, p = 0.0001) in a case-control analysis of non-Jewish IBD-affected individuals. This association was apparent among both Crohn's disease (OR = 5.23, p = 0.0007) and ulcerative colitis (OR = 7.9, p = 0.0001) patients and was confirmed in the non-Jewish IBD population by results of family-based association analysis using the transmission disequilibrium test. HLA DQB1*0501 was also associated with IBD (OR = 1.64, p = 0.02) in the non-Jewish population. but statistically significant association of this allele with disease was not detected for Crohn's disease and ulcerative colitis separately. No significant associations were identified among the Jewish patients. In the non-Jewish IBD families, IBD was as strongly associated with the DRB1*0103 DQB1*0501 haplotype as with the DRB1*0103 allele alone. The carrier frequency of the DRB1*0103 allele was found to be 10-fold higher in Crohn's disease patients with pure colonic involvement than in healthy controls (38.5% vs. 3.2%; p = 0.0002). These data demonstrate the association of the HLA DRB1*0103 allele with both Crohn's disease and ulcerative colitis and with large intestine-restricted disease in non-Jewish IBD patients and therefore identify HLA DRB1*0103 as a potentially important contributor to disease susceptibility and to expression of colonic involvement in IBD. PMID:12656131

Silverberg, Mark S; Mirea, Lucia; Bull, Shelley B; Murphy, Janet E; Steinhart, A Hillary; Greenberg, Gordon R; McLeod, Robin S; Cohen, Zane; Wade, Judith A; Siminovitch, Katherine A

2003-01-01

86

Expression studies of two paralogous ppa genes encoding distinct Family I pyrophosphatases in marine unicellular cyanobacteria reveal inactivation of the typical cyanobacterial gene  

Microsoft Academic Search

Genome sequence analyses revealed the occurrence of two paralogous ppa genes potentially encoding distinct Family I inorganic pyrophosphatases (sPPases, EC3.6.1.1) in the marine unicellular cyanobacteria Prochlorococcus marinus strains MED4 and MIT9313 and Synechococcus sp. WH8102. Protein sequence alignment and phylogenetic analysis indicated that the ppa gene proper of cyanobacteria (ppa1) encodes a presumably inactive mutant enzyme whereas the second gene

Mar??a R Gómez-Garc??a; Aurelio Serrano

2002-01-01

87

Phylogenetic analysis of the vertebrate Excitatory/Neutral Amino Acid Transporter (SLC1/EAAT) family reveals lineage specific subfamilies  

PubMed Central

Background The composition and expression of vertebrate gene families is shaped by species specific gene loss in combination with a number of gene and genome duplication events (R1, R2 in all vertebrates, R3 in teleosts) and depends on the ecological and evolutionary context. In this study we analyzed the evolutionary history of the solute carrier 1 (SLC1) gene family. These genes are supposed to be under strong selective pressure (purifying selection) due to their important role in the timely removal of glutamate at the synapse. Results In a genomic survey where we manually annotated and analyzing sequences from more than 300 SLC1 genes (from more than 40 vertebrate species), we found evidence for an interesting evolutionary history of this gene family. While human and mouse genomes contain 7 SLC1 genes, in prototheria, sauropsida, and amphibia genomes up to 9 and in actinopterygii up to 13 SLC1 genes are present. While some of the additional slc1 genes in ray-finned fishes originated from R3, the increased number of SLC1 genes in prototheria, sauropsida, and amphibia genomes originates from specific genes retained in these lineages. Phylogenetic comparison and microsynteny analyses of the SLC1 genes indicate, that theria genomes evidently lost several SLC1 genes still present in the other lineage. The genes lost in theria group into two new subfamilies of the slc1 gene family which we named slc1a8/eaat6 and slc1a9/eaat7. Conclusions The phylogeny of the SLC1/EAAT gene family demonstrates how multiple genome reorganization and duplication events can influence the number of active genes. Inactivation and preservation of specific SLC1 genes led to the complete loss of two subfamilies in extant theria, while other vertebrates have retained at least one member of two newly identified SLC1 subfamilies.

2010-01-01

88

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy  

Microsoft Academic Search

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal disorder characterized by abnormal vascularisation of the peripheral retina, often accompanied by retinal detachment. To date, mutations in three genes (FZD4, LRP5, and NDP) have been shown to be causative for FEVR. In two large Dutch pedigrees segregating autosomal-dominant FEVR, genome-wide SNP analysis identified an FEVR locus of approximately 40 Mb

Konstantinos Nikopoulos; Christian Gilissen; Alexander Hoischen; C. Erik van Nouhuys; F. Nienke Boonstra; Ellen A. W. Blokland; Peer Arts; Nienke Wieskamp; Tim M. Strom; Carmen Ayuso; Mauk A. D. Tilanus; Sanne Bouwhuis; Arijit Mukhopadhyay; Hans Scheffer; Lies H. Hoefsloot; Joris A. Veltman; Frans P. M. Cremers; Rob W. J. Collin

2010-01-01

89

Characterization of two avian MHC-like genes reveals an ancient origin of the CD1 family  

PubMed Central

Many of the genes that comprise the vertebrate adaptive immune system are conserved across wide evolutionary time scales. Most notably, homologs of the mammalian MHC gene family have been found in virtually all jawed vertebrates, including sharks, bony fishes, reptiles, and birds. The CD1 family of antigen-presenting molecules are related to the MHC class I family but have evolved to bind and present lipid antigens to T cells. Here, we describe two highly divergent nonclassical MHC class I genes found in the chicken (Gallus gallus) that have sequence homology to the mammalian CD1 family of proteins. One of the chicken CD1 genes expresses a full-length transcript, whereas the other has multiple splice variants. Both Southern blot and single nucleotide polymorphism analysis indicates that chicken CD1 is relatively nonpolymorphic. Moreover, cross-hybridizing bands are present in other bird species, suggesting broad conservation in the avian class. Northern analysis of chicken tissue shows a high level of CD1 expression in the bursa and spleen. In addition, molecular modeling predicts that the potential antigen-binding pocket is probably hydrophobic, a universal characteristic of CD1 molecules. Genomic analysis indicates that the CD1 genes are located on chicken chromosome 16 and maps to within 200 kb of the chicken MHC B locus, suggesting that CD1 genes diverged from classical MHC genes while still linked to the major histocompatibility complex locus. The existence of CD1 genes in an avian species suggests that the origin of CD1 extends deep into the evolutionary history of terrestrial vertebrates.

Miller, Marcia M.; Wang, Carren; Parisini, Emilio; Coletta, Ricardo D.; Goto, Ronald M.; Lee, Stella Y.; Barral, Duarte C.; Townes, Maria; Roura-Mir, Carme; Ford, Heide L.; Brenner, Michael B.; Dascher, Christopher C.

2005-01-01

90

Analysis of plant LTR-retrotransposons at the fine-scale family level reveals individual molecular patterns  

PubMed Central

Background Sugarcane is an important crop worldwide for sugar production and increasingly, as a renewable energy source. Modern cultivars have polyploid, large complex genomes, with highly unequal contributions from ancestral genomes. Long Terminal Repeat retrotransposons (LTR-RTs) are the single largest components of most plant genomes and can substantially impact the genome in many ways. It is therefore crucial to understand their contribution to the genome and transcriptome, however a detailed study of LTR-RTs in sugarcane has not been previously carried out. Results Sixty complete LTR-RT elements were classified into 35 families within four Copia and three Gypsy lineages. Structurally, within lineages elements were similar, between lineages there were large size differences. FISH analysis resulted in the expected pattern of Gypsy/heterochromatin, Copia/euchromatin, but in two lineages there was localized clustering on some chromosomes. Analysis of related ESTs and RT-PCR showed transcriptional variation between tissues and families. Four distinct patterns were observed in sRNA mapping, the most unusual of which was that of Ale1, with very large numbers of 24nt sRNAs in the coding region. The results presented support the conclusion that distinct small RNA-regulated pathways in sugarcane target the lineages of LTR-RT elements. Conclusions Individual LTR-RT sugarcane families have distinct structures, and transcriptional and regulatory signatures. Our results indicate that in sugarcane individual LTR-RT families have distinct behaviors and can potentially impact the genome in diverse ways. For instance, these transposable elements may affect nearby genes by generating a diverse set of small RNA's that trigger gene silencing mechanisms. There is also some evidence that ancestral genomes contribute significantly different element numbers from particular LTR-RT lineages to the modern sugarcane cultivar genome.

2012-01-01

91

The Barley Genome Sequence Assembly Reveals Three Additional Members of the CslF (1,3;1,4)-?-Glucan Synthase Gene Family  

PubMed Central

An important component of barley cell walls, particularly in the endosperm, is (1,3;1,4)-?- glucan, a polymer that has proven health benefits in humans and that influences processability in the brewing industry. Genes of the cellulose synthase-like (Csl) F gene family have been shown to be involved in (1,3;1,4)-?-glucan synthesis but many aspects of the biosynthesis are still unclear. Examination of the sequence assembly of the barley genome has revealed the presence of an additional three HvCslF genes (HvCslF11, HvCslF12 and HvCslF13) which may be involved in (1,3;1,4)-?-glucan synthesis. Transcripts of HvCslF11 and HvCslF12 mRNA were found in roots and young leaves, respectively. Transient expression of these genes in Nicotiana benthamiana resulted in phenotypic changes in the infiltrated leaves, although no authentic (1,3;1,4)-?-glucan was detected. Comparisons of the CslF gene families in cereals revealed evidence of intergenic recombination, gene duplications and translocation events. This significant divergence within the gene family might be related to multiple functions of (1,3;1,4)-?-glucans in the Poaceae. Emerging genomic and global expression data for barley and other cereals is a powerful resource for characterising the evolution and dynamics of complete gene families. In the case of the CslF gene family, the results will contribute to a more thorough understanding of carbohydrate metabolism in grass cell walls.

Schreiber, Miriam; Wright, Frank; MacKenzie, Katrin; Hedley, Pete E.; Schwerdt, Julian G.; Little, Alan; Burton, Rachel A.; Fincher, Geoffrey B.; Marshall, David; Waugh, Robbie; Halpin, Claire

2014-01-01

92

The barley genome sequence assembly reveals three additional members of the CslF (1,3;1,4)-?-glucan synthase gene family.  

PubMed

An important component of barley cell walls, particularly in the endosperm, is (1,3;1,4)-?-glucan, a polymer that has proven health benefits in humans and that influences processability in the brewing industry. Genes of the cellulose synthase-like (Csl) F gene family have been shown to be involved in (1,3;1,4)-?-glucan synthesis but many aspects of the biosynthesis are still unclear. Examination of the sequence assembly of the barley genome has revealed the presence of an additional three HvCslF genes (HvCslF11, HvCslF12 and HvCslF13) which may be involved in (1,3;1,4)-?-glucan synthesis. Transcripts of HvCslF11 and HvCslF12 mRNA were found in roots and young leaves, respectively. Transient expression of these genes in Nicotiana benthamiana resulted in phenotypic changes in the infiltrated leaves, although no authentic (1,3;1,4)-?-glucan was detected. Comparisons of the CslF gene families in cereals revealed evidence of intergenic recombination, gene duplications and translocation events. This significant divergence within the gene family might be related to multiple functions of (1,3;1,4)-?-glucans in the Poaceae. Emerging genomic and global expression data for barley and other cereals is a powerful resource for characterising the evolution and dynamics of complete gene families. In the case of the CslF gene family, the results will contribute to a more thorough understanding of carbohydrate metabolism in grass cell walls. PMID:24595438

Schreiber, Miriam; Wright, Frank; MacKenzie, Katrin; Hedley, Pete E; Schwerdt, Julian G; Little, Alan; Burton, Rachel A; Fincher, Geoffrey B; Marshall, David; Waugh, Robbie; Halpin, Claire

2014-01-01

93

TcaR-ssDNA complex crystal structure reveals new DNA binding mechanism of the MarR family proteins  

PubMed Central

The teicoplanin-associated locus regulator (TcaR) regulates gene expression of proteins on the intercellular adhesion (ica) locus involved in staphylococci poly-N-acetylglucosamine biosynthesis. The absence of TcaR increases poly-N-acetylglucosamine production and promotes biofilm formation. Until recently, the mechanism of multiple antibiotic resistance regulator family protein members, such as TcaR, was restricted to binding double-stranded DNA. However, we recently found that TcaR strongly interacts with single-stranded DNA, which is a new role for this family of proteins. In this study, we report Staphylococcus epidermidis TcaR–single-stranded DNA complex structures. Our model suggests that TcaR and single-stranded DNA form a 61-symmetry polymer composed of TcaR dimers with single-stranded DNA that wraps outside the polymer and 12 nt per TcaR dimer. Single-stranded DNA binding to TcaR involves a large conformational change at the DNA binding lobe. Several point mutations involving the single-stranded DNA binding surface validate interactions between single-stranded DNA and TcaR. Our results extend the novel role of multiple antibiotic resistance regulator family proteins in staphylococci.

Chang, Yu-Ming; Ho, Chun-Han; Chen, Cammy K.-M.; Maestre-Reyna, Manuel; Chang-Chien, Masatoshi Weiting; Wang, Andrew H.-J.

2014-01-01

94

Family studies of type 1 diabetes reveal additive and epistatic effects between MGAT1 and three other polymorphisms.  

PubMed

In a recent study on multiple sclerosis (MS), we observed additive effects and epistatic interactions between variants of four genes that converge to induce T-cell hyperactivity by altering Asn-(N)-linked protein glycosylation: namely, the Golgi enzyme MGAT1, cytotoxic T-lymphocyte antigen 4 (CTLA-4), interleukin-2 receptor-? (IL2RA) and interleukin-7 receptor-? (IL7RA). As the CTLA-4, IL2RA and IL7RA variants are associated with type 1 diabetes (T1D), we examined for joint effects in T1D. Employing a novel conditional logistic regression for family-based data sets, epistatic and additive effects were observed using 1423 multiplex families from the Type 1 Diabetes Genetic Consortium data set. The IL2RA and IL7RA variants had univariate association in MS and T1D, whereas the MGAT1 and CTLA-4 variants associated with only MS or T1D, respectively. However, similar to MS, the MGAT1 variant haplotype interacted with CTLA4 (P=0.03), and a combination of IL2RA and IL7RA (P=0.01). The joint effects of MGAT1, CTLA4, IL2RA, IL7RA and the two interactions using a multiple conditional logistic regression were statistically highly significant (P<5 × 10(-10)). The MGAT1-CTLA-4 interaction was replicated (P=0.01) in 179 trio families from the Genetics of Kidneys in Diabetes study. These data are consistent with defective N-glycosylation of T cells contributing to T1D pathogenesis. PMID:24572742

Yu, Z; Li, C F; Mkhikian, H; Zhou, R W; Newton, B L; Demetriou, M

2014-04-01

95

Transcriptome-Wide Survey of Mouse CNS-Derived Cells Reveals Monoallelic Expression within Novel Gene Families  

PubMed Central

Monoallelic expression is an integral component of regulation of a number of essential genes and gene families. To probe for allele-specific expression in cells of CNS origin, we used next-generation sequencing (RNA-seq) to analyze four clonal neural stem cell (NSC) lines derived from Mus musculus C57BL/6 (B6)×Mus musculus molossinus (JF1) adult female mice. We established a JF1 cSNP library, then ascertained transcriptome-wide expression from B6 vs. JF1 alleles in the NSC lines. Validating the assay, we found that 262 of 268 X-linked genes evaluable in at least one cell line showed monoallelic expression (at least 85% expression of the predominant allele, p-value<0.05). For autosomal genes 170 of 7,198 genes (2.4% of the total) showed monoallelic expression in at least 2 evaluable cell lines. The group included eight known imprinted genes with the expected pattern of allele-specific expression. Among the other autosomal genes with monoallelic expression were five members of the glutathione transferase gene superfamily, which processes xenobiotic compounds as well as carcinogens and cancer therapeutic agents. Monoallelic expression within this superfamily thus may play a functional role in the response to diverse and potentially lethal exogenous factors, as is the case for the immunoglobulin and olfactory receptor superfamilies. Other genes and gene families showing monoallelic expression include the annexin gene family and the Thy1 gene, both linked to inflammation and cancer, as well as genes linked to alcohol dependence (Gabrg1) and epilepsy (Kcnma1). The annotated set of genes will provide a resource for investigation of mechanisms underlying certain cases of these and other major disorders.

Li, Sierra M.; Valo, Zuzana; Wang, Jinhui; Gao, Hanlin; Bowers, Chauncey W.; Singer-Sam, Judith

2012-01-01

96

A comprehensive analysis of the geranylgeranylglyceryl phosphate synthase enzyme family identifies novel members and reveals mechanisms of substrate specificity and quaternary structure organization.  

PubMed

Geranylgeranylglyceryl phosphate synthase (GGGPS) family enzymes catalyse the formation of an ether bond between glycerol-1-phosphate and polyprenyl diphosphates. They are essential for the biosynthesis of archaeal membrane lipids, but also occur in bacterial species, albeit with unknown physiological function. It has been known that there exist two phylogenetic groups (I and II) of GGGPS family enzymes, but a comprehensive study has been missing. We therefore visualized the variability within the family by applying a sequence similarity network, and biochemically characterized 17 representative GGGPS family enzymes regarding their catalytic activities and substrate specificities. Moreover, we present the first crystal structures of group II archaeal and bacterial enzymes. Our analysis revealed that the previously uncharacterized bacterial enzymes from group II have GGGPS activity like the archaeal enzymes and differ from the bacterial group I enzymes that are heptaprenylglyceryl phosphate synthases. The length of the isoprenoid substrate is determined in group II GGGPS enzymes by 'limiter residues' that are different from those in group I enzymes, as shown by site-directed mutagenesis. Most of the group II enzymes form hexamers. We could disrupt these hexamers to stable and catalytically active dimers by mutating a single amino acid that acts as an 'aromatic anchor'. PMID:24684232

Peterhoff, David; Beer, Barbara; Rajendran, Chitra; Kumpula, Esa-Pekka; Kapetaniou, Evangelia; Guldan, Harald; Wierenga, Rik K; Sterner, Reinhard; Babinger, Patrick

2014-05-01

97

A DinB variant reveals diverse physiological consequences of incomplete TLS extension by a Y-family DNA polymerase  

PubMed Central

The only Y-family DNA polymerase conserved among all domains of life, DinB and its mammalian ortholog pol ?, catalyzes proficient bypass of damaged DNA in translesion synthesis (TLS). Y-family DNA polymerases, including DinB, have been implicated in diverse biological phenomena ranging from adaptive mutagenesis in bacteria to several human cancers. Complete TLS requires dNTP insertion opposite a replication blocking lesion and subsequent extension with several dNTP additions. Here we report remarkably proficient TLS extension by DinB from Escherichia coli. We also describe a TLS DNA polymerase variant generated by mutation of an evolutionarily conserved tyrosine (Y79). This mutant DinB protein is capable of catalyzing dNTP insertion opposite a replication-blocking lesion, but cannot complete TLS, stalling three nucleotides after an N2-dG adduct. Strikingly, expression of this variant transforms a bacteriostatic DNA damaging agent into a bactericidal drug, resulting in profound toxicity even in a dinB+ background. We find that this phenomenon is not exclusively due to a futile cycle of abortive TLS followed by exonucleolytic reversal. Rather, gene products with roles in cell death and metal homeostasis modulate the toxicity of DinB(Y79L) expression. Together, these results indicate that DinB is specialized to perform remarkably proficient insertion and extension on damaged DNA, and also expose unexpected connections between TLS and cell fate.

Jarosz, Daniel F.; Cohen, Susan E.; Delaney, James C.; Essigmann, John M.; Walker, Graham C.

2009-01-01

98

Simulated annealing reveals the kinetic activity of SGLT1, a member of the LeuT structural family  

PubMed Central

The Na+/glucose cotransporter (SGLT1) is the archetype of membrane proteins that use the electrochemical Na+ gradient to drive uphill transport of a substrate. The crystal structure recently obtained for vSGLT strongly suggests that SGLT1 adopts the inverted repeat fold of the LeuT structural family for which several crystal structures are now available. What is largely missing is an accurate view of the rates at which SGLT1 transits between its different conformational states. In the present study, we used simulated annealing to analyze a large set of steady-state and pre–steady-state currents measured for human SGLT1 at different membrane potentials, and in the presence of different Na+ and ?-methyl-d-glucose (?MG) concentrations. The simplest kinetic model that could accurately reproduce the time course of the measured currents (down to the 2 ms time range) is a seven-state model (C1 to C7) where the binding of the two Na+ ions (C4?C5) is highly cooperative. In the forward direction (Na+/glucose influx), the model is characterized by two slow, electroneutral conformational changes (59 and 100 s?1) which represent reorientation of the free and of the fully loaded carrier between inside-facing and outside-facing conformations. From the inward-facing (C1) to the outward-facing Na-bound configuration (C5), 1.3 negative elementary charges are moved outward. Although extracellular glucose binding (C5?C6) is electroneutral, the next step (C6?C7) carries 0.7 positive charges inside the cell. Alignment of the seven-state model with a generalized model suggested by the structural data of the LeuT fold family suggests that electrogenic steps are associated with the movement of the so-called thin gates on each side of the substrate binding site. To our knowledge, this is the first model that can quantitatively describe the behavior of SGLT1 down to the 2 ms time domain. The model is highly symmetrical and in good agreement with the structural information obtained from the LeuT structural family.

Longpre, Jean-Philippe; Sasseville, Louis J.

2012-01-01

99

A Family-based Approach Reveals the Function of Residues in the Nuclear Receptor Ligand-binding Domain  

Microsoft Academic Search

Literature studies, 3D structure data, and a series of sequence analysis techniques were combined to reveal important residues in the structure and function of the ligand-binding domain of nuclear hormone receptors. A structure-based multiple sequence alignment allowed for the seamless combination of data from many different studies on different receptors into one single functional model.It was recently shown that a

Simon Folkertsma; Paula van Noort; Joost Van Durme; Henk-Jan Joosten; Emmanuel Bettler; Wilco Fleuren; Laerte Oliveira; Florence Horn; Jacob de Vlieg; Gerrit Vriend

2004-01-01

100

STOP-like protein 21 is a novel member of the STOP family, revealing a Golgi localization of STOP proteins.  

PubMed

Neuronal microtubules are stabilized by two calmodulin-regulated microtubule-associated proteins, E-STOP and N-STOP, which when suppressed in mice induce severe synaptic and behavioral deficits. Here we show that mature neurons also contain a 21-kDa STOP-like protein, SL21, which shares calmodulin-binding and microtubule-stabilizing homology domains with STOP proteins. Accordingly, in different biochemical or cellular assays, SL21 has calmodulin binding and microtubule stabilizing activity. However, in cultured hippocampal neurons, SL21 antibodies principally stain the somatic Golgi and punctate Golgi material in neurites. In cycling cells, transfected SL21 decorates microtubules when expressed at high levels but is otherwise principally visible at the Golgi. The Golgi targeting of SL21 depends on the presence of cysteine residues located within the SL21 N-terminal domain, suggesting that Golgi targeting may require SL21 palmitoylation. Accordingly we find that SL21 is palmitoylated in vivo. N-STOP and E-STOP, which contain the Golgi targeting sequences present in SL21, also display distinct Golgi staining when expressed at low level in cycling cells. Thus neuronal proteins of the STOP family have the capacity to associate with Golgi material, which could be important for STOP synaptic functions. PMID:16837464

Gory-Fauré, Sylvie; Windscheid, Vanessa; Bosc, Christophe; Peris, Leticia; Proietto, Dominique; Franck, Ronald; Denarier, Eric; Job, Didier; Andrieux, Annie

2006-09-22

101

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.  

PubMed

Dentoleukoencephalopathies with autosomal recessive inheritance are very rare. Recently, a large inbred Syrian pedigree was reported with oligodontia in association with a degenerative neurologic condition characterized by progressive ataxia and pyramidal syndrome and abnormalities in the white matter and cortical atrophy. A whole-genome screening of this family using 382 microsatellite markers was completed, but no evidence was found of linkage to any chromosomal region. A genome-wide linkage analysis using the 260K single nucleotide polymorphism Affymetrix array was then undertaken and a maximum multipoint logarithm of the odds score of 5.66 (NPL score = 7.65) was detected on chromosome 10q22 region. This genomic interval contains 95 known genes including the Prosaposin gene (PSAP) responsible for metachromatic leukodystrophy, which was excluded. Seventeen additional candidate genes were tested and excluded. Sequencing of the whole candidate locus is in progress and should allow the identification of the causative gene in this rare disease, thereby improving the understanding of the physiopathology of this disease. PMID:20721593

Chouery, Eliane; Delague, Valérie; Jalkh, Nadine; Salem, Nabiha; Kfoury, Jessy; Rodriguez, Diana; Chabrol, Brigitte; Boespflug-Tanguy, Odile; Lévy, Nicolas; Serre, Jean Louis; Mégarbané, André

2011-02-01

102

Mycobacterial Phylogenomics: An Enhanced Method for Gene Turnover Analysis Reveals Uneven Levels of Gene Gain and Loss among Species and Gene Families  

PubMed Central

Species of the genus Mycobacterium differ in several features, from geographic ranges, and degree of pathogenicity, to ecological and host preferences. The recent availability of several fully sequenced genomes for a number of these species enabled the comparative study of the genetic determinants of this wide lifestyle diversity. Here, we applied two complementary phylogenetic-based approaches using information from 19 Mycobacterium genomes to obtain a more comprehensive view of the evolution of this genus. First, we inferred the phylogenetic relationships using two new approaches, one based on a Mycobacterium-specific amino acid substitution matrix and the other on a gene content dissimilarity matrix. Then, we utilized our recently developed gain-and-death stochastic models to study gene turnover dynamics in this genus in a maximum-likelihood framework. We uncovered a scenario that differs markedly from traditional 16S rRNA data and improves upon recent phylogenomic approaches. We also found that the rates of gene gain and death are high and unevenly distributed both across species and across gene families, further supporting the utility of the new models of rate heterogeneity applied in a phylogenetic context. Finally, the functional annotation of the most expanded or contracted gene families revealed that the transposable elements and the fatty acid metabolism-related gene families are the most important drivers of gene content evolution in Mycobacterium.

Librado, Pablo; Vieira, Filipe G.; Sanchez-Gracia, Alejandro; Kolokotronis, Sergios-Orestis; Rozas, Julio

2014-01-01

103

Structural and Biochemical Analyses of Glycoside Hydrolase Families 5 and 26 ?-(1,4)-Mannanases from Podospora anserina Reveal Differences upon Manno-oligosaccharide Catalysis*  

PubMed Central

The microbial deconstruction of the plant cell wall is a key biological process that is of increasing importance with the development of a sustainable biofuel industry. The glycoside hydrolase families GH5 (PaMan5A) and GH26 (PaMan26A) endo-?-1,4-mannanases from the coprophilic ascomycete Podospora anserina contribute to the enzymatic degradation of lignocellulosic biomass. In this study, P. anserina mannanases were further subjected to detailed comparative analysis of their substrate specificities, active site organization, and transglycosylation capacity. Although PaMan5A displays a classical mode of action, PaMan26A revealed an atypical hydrolysis pattern with the release of mannotetraose and mannose from mannopentaose resulting from a predominant binding mode involving the ?4 subsite. The crystal structures of PaMan5A and PaMan26A were solved at 1.4 and 2.85 ? resolution, respectively. Analysis of the PaMan26A structure supported strong interaction with substrate at the ?4 subsite mediated by two aromatic residues Trp-244 and Trp-245. The PaMan26A structure appended to its family 35 carbohydrate binding module revealed a short and proline-rich rigid linker that anchored together the catalytic and the binding modules.

Couturier, Marie; Roussel, Alain; Rosengren, Anna; Leone, Philippe; Stalbrand, Henrik; Berrin, Jean-Guy

2013-01-01

104

Structure- and context-based analysis of the GxGYxYP family reveals a new putative class of Glycoside Hydrolase  

PubMed Central

Background Gut microbiome metagenomics has revealed many protein families and domains found largely or exclusively in that environment. Proteins containing the GxGYxYP domain are over-represented in the gut microbiota, and are found in Polysaccharide Utilization Loci in the gut symbiont Bacteroides thetaiotaomicron, suggesting their involvement in polysaccharide metabolism, but little else is known of the function of this domain. Results Genomic context and domain architecture analyses support a role for the GxGYxYP domain in carbohydrate metabolism. Sparse occurrences in eukaryotes are the result of lateral gene transfer. The structure of the GxGYxYP domain-containing protein encoded by the BT2193 locus reveals two structural domains, the first composed of three divergent repeats with no recognisable homology to previously solved structures, the second a more familiar seven-stranded ?/? barrel. Structure-based analyses including conservation mapping localise a presumed functional site to a cleft between the two domains of BT2193. Matching to a catalytic site template from a GH9 cellulase and other analyses point to a putative catalytic triad composed of Glu272, Asp331 and Asp333. Conclusions We suggest that GxGYxYP-containing proteins constitute a novel glycoside hydrolase family of as yet unknown specificity.

2014-01-01

105

Conformational dynamics of a Y-family DNA polymerase during substrate binding and catalysis as revealed by interdomain Förster resonance energy transfer.  

PubMed

Numerous kinetic, structural, and theoretical studies have established that DNA polymerases adjust their domain structures to enclose nucleotides in their active sites and then rearrange critical active site residues and substrates for catalysis, with the latter conformational change acting to kinetically limit the correct nucleotide incorporation rate. Additionally, structural studies have revealed a large conformational change between the apoprotein and the DNA-protein binary state for Y-family DNA polymerases. In previous studies [Xu, C., Maxwell, B. A., Brown, J. A., Zhang, L., and Suo, Z. (2009) PLoS Biol. 7, e1000225], a real-time Förster resonance energy transfer (FRET) method was developed to monitor the global conformational transitions of DNA polymerase IV from Sulfolobus solfataricus (Dpo4), a prototype Y-family enzyme, during nucleotide binding and incorporation by measuring changes in distance between locations on the enzyme and the DNA substrate. To elucidate further details of the conformational transitions of Dpo4 during substrate binding and catalysis, in this study, the real-time FRET technique was used to monitor changes in distance between various pairs of locations in the protein itself. In addition to providing new insight into the conformational changes as revealed in previous studies, the results here show that the previously described conformational change between the apo and DNA-bound states of Dpo4 occurs in a mechanistic step distinct from initial formation or dissociation of the binary complex of Dpo4 and DNA. PMID:24568554

Maxwell, Brian A; Xu, Cuiling; Suo, Zucai

2014-03-25

106

Phylogeographic Analyses of Submesophotic Snappers Etelis coruscans and Etelis “marshi” (Family Lutjanidae) Reveal Concordant Genetic Structure across the Hawaiian Archipelago  

PubMed Central

The Hawaiian Archipelago has become a natural laboratory for understanding genetic connectivity in marine organisms as a result of the large number of population genetics studies that have been conducted across this island chain for a wide taxonomic range of organisms. However, population genetic studies have been conducted for only two species occurring in the mesophotic or submesophotic zones (30+m) in this archipelago. To gain a greater understanding of genetic connectivity in these deepwater habitats, we investigated the genetic structure of two submesophotic fish species (occurring ?200–360 m) in this archipelago. We surveyed 16 locations across the archipelago for submesophotic snappers Etelis coruscans (N?=?787) and E. “marshi” (formerly E. carbunculus; N?=?770) with 436–490 bp of mtDNA cytochrome b and 10–11 microsatellite loci. Phylogeographic analyses reveal no geographic structuring of mtDNA lineages and recent coalescence times that are typical of shallow reef fauna. Population genetic analyses reveal no overall structure across most of the archipelago, a pattern also typical of dispersive shallow fishes. However some sites in the mid-archipelago (Raita Bank to French Frigate Shoals) had significant population differentiation. This pattern of no structure between ends of the Hawaiian range, and significant structure in the middle, was previously observed in a submesophotic snapper (Pristipomoides filamentosus) and a submesophotic grouper (Hyporthodus quernus). Three of these four species also have elevated genetic diversity in the mid-archipelago. Biophysical larval dispersal models from previous studies indicate that this elevated diversity may result from larval supplement from Johnston Atoll, ?800 km southwest of Hawaii. In this case the boundaries of stocks for fishery management cannot be defined simply in terms of geography, and fishery management in Hawaii may need to incorporate external larval supply into management plans.

Andrews, Kimberly R.; Moriwake, Virginia N.; Wilcox, Christie; Grau, E. Gordon; Kelley, Christopher; Pyle, Richard L.; Bowen, Brian W.

2014-01-01

107

Phylogeographic analyses of submesophotic snappers Etelis coruscans and Etelis "marshi" (family Lutjanidae) reveal concordant genetic structure across the Hawaiian Archipelago.  

PubMed

The Hawaiian Archipelago has become a natural laboratory for understanding genetic connectivity in marine organisms as a result of the large number of population genetics studies that have been conducted across this island chain for a wide taxonomic range of organisms. However, population genetic studies have been conducted for only two species occurring in the mesophotic or submesophotic zones (30+m) in this archipelago. To gain a greater understanding of genetic connectivity in these deepwater habitats, we investigated the genetic structure of two submesophotic fish species (occurring ?200-360 m) in this archipelago. We surveyed 16 locations across the archipelago for submesophotic snappers Etelis coruscans (N?=?787) and E. "marshi" (formerly E. carbunculus; N?=?770) with 436-490 bp of mtDNA cytochrome b and 10-11 microsatellite loci. Phylogeographic analyses reveal no geographic structuring of mtDNA lineages and recent coalescence times that are typical of shallow reef fauna. Population genetic analyses reveal no overall structure across most of the archipelago, a pattern also typical of dispersive shallow fishes. However some sites in the mid-archipelago (Raita Bank to French Frigate Shoals) had significant population differentiation. This pattern of no structure between ends of the Hawaiian range, and significant structure in the middle, was previously observed in a submesophotic snapper (Pristipomoides filamentosus) and a submesophotic grouper (Hyporthodus quernus). Three of these four species also have elevated genetic diversity in the mid-archipelago. Biophysical larval dispersal models from previous studies indicate that this elevated diversity may result from larval supplement from Johnston Atoll, ?800 km southwest of Hawaii. In this case the boundaries of stocks for fishery management cannot be defined simply in terms of geography, and fishery management in Hawaii may need to incorporate external larval supply into management plans. PMID:24722193

Andrews, Kimberly R; Moriwake, Virginia N; Wilcox, Christie; Grau, E Gordon; Kelley, Christopher; Pyle, Richard L; Bowen, Brian W

2014-01-01

108

Identification of Nicotinamide Mononucleotide Deamidase of the Bacterial Pyridine Nucleotide Cycle Reveals a Novel Broadly Conserved Amidohydrolase Family*  

PubMed Central

The pyridine nucleotide cycle is a network of salvage and recycling routes maintaining homeostasis of NAD(P) cofactor pool in the cell. Nicotinamide mononucleotide (NMN) deamidase (EC 3.5.1.42), one of the key enzymes of the bacterial pyridine nucleotide cycle, was originally described in Enterobacteria, but the corresponding gene eluded identification for over 30 years. A genomics-based reconstruction of NAD metabolism across hundreds of bacterial species suggested that NMN deamidase reaction is the only possible way of nicotinamide salvage in the marine bacterium Shewanella oneidensis. This prediction was verified via purification of native NMN deamidase from S. oneidensis followed by the identification of the respective gene, termed pncC. Enzymatic characterization of the PncC protein, as well as phenotype analysis of deletion mutants, confirmed its proposed biochemical and physiological function in S. oneidensis. Of the three PncC homologs present in Escherichia coli, NMN deamidase activity was confirmed only for the recombinant purified product of the ygaD gene. A comparative analysis at the level of sequence and three-dimensional structure, which is available for one of the PncC family member, shows no homology with any previously described amidohydrolases. Multiple alignment analysis of functional and nonfunctional PncC homologs, together with NMN docking experiments, allowed us to tentatively identify the active site area and conserved residues therein. An observed broad phylogenomic distribution of predicted functional PncCs in the bacterial kingdom is consistent with a possible role in detoxification of NMN, resulting from NAD utilization by DNA ligase.

Galeazzi, Luca; Bocci, Paola; Amici, Adolfo; Brunetti, Lucia; Ruggieri, Silverio; Romine, Margaret; Reed, Samantha; Osterman, Andrei L.; Rodionov, Dmitry A.; Sorci, Leonardo; Raffaelli, Nadia

2011-01-01

109

Transposon mutagenesis reveals cooperation of ETS family transcription factors with signaling pathways in erythro-megakaryocytic leukemia.  

PubMed

To define genetic lesions driving leukemia, we targeted cre-dependent Sleeping Beauty (SB) transposon mutagenesis to the blood-forming system using a hematopoietic-selective vav 1 oncogene (vav1) promoter. Leukemias of diverse lineages ensued, most commonly lymphoid leukemia and erythroleukemia. The inclusion of a transgenic allele of Janus kinase 2 (JAK2)V617F resulted in acceleration of transposon-driven disease and strong selection for erythroleukemic pathology with transformation of bipotential erythro-megakaryocytic cells. The genes encoding the E-twenty-six (ETS) transcription factors Ets related gene (Erg) and Ets1 were the most common sites for transposon insertion in SB-induced JAK2V617F-positive erythroleukemias, present in 87.5% and 65%, respectively, of independent leukemias examined. The role of activated Erg was validated by reproducing erythroleukemic pathology in mice transplanted with fetal liver cells expressing translocated in liposarcoma (TLS)-ERG, an activated form of ERG found in human leukemia. Via application of SB mutagenesis to TLS-ERG-induced erythroid transformation, we identified multiple loci as likely collaborators with activation of Erg. Jak2 was identified as a common transposon insertion site in TLS-ERG-induced disease, strongly validating the cooperation between JAK2V617F and transposon insertion at the Erg locus in the JAK2V617F-positive leukemias. Moreover, loci expressing other regulators of signal transduction pathways were conspicuous among the common transposon insertion sites in TLS-ERG-driven leukemia, suggesting that a key mechanism in erythroleukemia may be the collaboration of lesions disturbing erythroid maturation, most notably in genes of the ETS family, with mutations that reduce dependence on exogenous signals. PMID:23533276

Tang, Jian Zhong; Carmichael, Catherine L; Shi, Wei; Metcalf, Donald; Ng, Ashley P; Hyland, Craig D; Jenkins, Nancy A; Copeland, Neal G; Howell, Viive M; Zhao, Zhizhuang Joe; Smyth, Gordon K; Kile, Benjamin T; Alexander, Warren S

2013-04-01

110

Conserved synteny at the protein family level reveals genes underlying Shewanella species' cold tolerance and predicts their novel phenotypes.  

PubMed

Bacteria of the genus Shewanella can thrive in different environments and demonstrate significant variability in their metabolic and ecophysiological capabilities including cold and salt tolerance. Genomic characteristics underlying this variability across species are largely unknown. In this study, we address the problem by a comparison of the physiological, metabolic, and genomic characteristics of 19 sequenced Shewanella species. We have employed two novel approaches based on association of a phenotypic trait with the number of the trait-specific protein families (Pfam domains) and on the conservation of synteny (order in the genome) of the trait-related genes. Our first approach is top-down and involves experimental evaluation and quantification of the species' cold tolerance followed by identification of the correlated Pfam domains and genes with a conserved synteny. The second, a bottom-up approach, predicts novel phenotypes of the species by calculating profiles of each Pfam domain among their genomes and following pair-wise correlation of the profiles and their network clustering. Using the first approach, we find a link between cold and salt tolerance of the species and the presence in the genome of a Na(+)/H(+) antiporter gene cluster. Other cold-tolerance-related genes include peptidases, chemotaxis sensory transducer proteins, a cysteine exporter, and helicases. Using the bottom-up approach, we found several novel phenotypes in the newly sequenced Shewanella species, including degradation of aromatic compounds by an aerobic hybrid pathway in Shewanella woodyi, degradation of ethanolamine by Shewanella benthica, and propanediol degradation by Shewanella putrefaciens CN32 and Shewanella sp. W3-18-1. PMID:19802638

Karpinets, Tatiana V; Obraztsova, Anna Y; Wang, Yanbing; Schmoyer, Denise D; Kora, Guruprasad H; Park, Byung H; Serres, Margrethe H; Romine, Margaret F; Land, Miriam L; Kothe, Terence B; Fredrickson, Jim K; Nealson, Kenneth H; Uberbacher, Edward C

2010-03-01

111

Sequence analyses of the distal-less homeobox gene family in East African cichlid fishes reveal signatures of positive selection  

PubMed Central

Background Gen(om)e duplication events are hypothesized as key mechanisms underlying the origin of phenotypic diversity and evolutionary innovation. The diverse and species-rich lineage of teleost fishes is a renowned example of this scenario, because of the fish-specific genome duplication. Gene families, generated by this and other gene duplication events, have been previously found to play a role in the evolution and development of innovations in cichlid fishes - a prime model system to study the genetic basis of rapid speciation, adaptation and evolutionary innovation. The distal-less homeobox genes are particularly interesting candidate genes for evolutionary novelties, such as the pharyngeal jaw apparatus and the anal fin egg-spots. Here we study the dlx repertoire in 23 East African cichlid fishes to determine the rate of evolution and the signatures of selection pressure. Results Four intact dlx clusters were retrieved from cichlid draft genomes. Phylogenetic analyses of these eight dlx loci in ten teleost species, followed by an in-depth analysis of 23 East African cichlid species, show that there is disparity in the rates of evolution of the dlx paralogs. Dlx3a and dlx4b are the fastest evolving dlx genes, while dlx1a and dlx6a evolved more slowly. Subsequent analyses of the nonsynonymous-synonymous substitution rate ratios indicate that dlx3b, dlx4a and dlx5a evolved under purifying selection, while signs of positive selection were found for dlx1a, dlx2a, dlx3a and dlx4b. Conclusions Our results indicate that the dlx repertoire of teleost fishes and cichlid fishes in particular, is shaped by differential selection pressures and rates of evolution after gene duplication. Although the divergence of the dlx paralogs are putative signs of new or altered functions, comparisons with available expression patterns indicate that the three dlx loci under strong purifying selection, dlx3b, dlx4a and dlx5a, are transcribed at high levels in the cichlids’ pharyngeal jaw and anal fin. The dlx paralogs emerge as excellent candidate genes for the development of evolutionary innovations in cichlids, although further functional analyses are necessary to elucidate their respective contribution.

2013-01-01

112

In silico analysis reveals 75 members of mitogen-activated protein kinase kinase kinase gene family in rice.  

PubMed

Mitogen-Activated Protein Kinase Kinase Kinases (MAPKKKs) are important components of MAPK cascades, which are universal signal transduction modules and play important role in plant growth and development. In the sequenced Arabidopsis genome 80 MAPKKKs were identified and currently being analysed for its role in different stress. In rice, economically important monocot cereal crop only five MAPKKKs were identified so far. In this study using computational analysis of sequenced rice genome we have identified 75 MAPKKKs. EST hits and full-length cDNA sequences (from KOME or Genbank database) of 75 MAPKKKs supported their existence. Phylogenetic analyses of MAPKKKs from rice and Arabidopsis have classified them into three subgroups, which include Raf, ZIK and MEKK. Conserved motifs in the deduced amino acid sequences of rice MAPKKKs strongly supported their identity as members of Raf, ZIK and MEKK subfamilies. Further expression analysis of the MAPKKKs in MPSS database revealed that their transcripts were differentially regulated in various stress and tissue-specific libraries. PMID:20395279

Rao, Kudupudi Prabhakara; Richa, Tambi; Kumar, Kundan; Raghuram, Badmi; Sinha, Alok Krishna

2010-06-01

113

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.  

PubMed

Inherited retinal diseases are a group of clinically and genetically heterogeneous disorders for which a significant number of cases remain genetically unresolved. Increasing knowledge on underlying pathogenic mechanisms with precise phenotype-genotype correlation is, however, critical for establishing novel therapeutic interventions for these yet incurable neurodegenerative conditions. We report phenotypic and genetic characterization of a large family presenting an unusual autosomal dominant retinal dystrophy. Phenotypic characterization revealed a retinopathy dominated by inner retinal dysfunction and ganglion cell abnormalities. Whole-exome sequencing identified a missense variant (c.782A>C, p.Glu261Ala) in ITM2B coding for Integral Membrane Protein 2B, which co-segregates with the disease in this large family and lies within the 24.6 Mb interval identified by microsatellite haplotyping. The physiological role of ITM2B remains unclear and has never been investigated in the retina. RNA in situ hybridization reveals Itm2b mRNA in inner nuclear and ganglion cell layers within the retina, with immunostaining demonstrating the presence of the corresponding protein in the same layers. Furthermore, ITM2B in the retina co-localizes with its known interacting partner in cerebral tissue, the amyloid ? precursor protein, critical in Alzheimer disease physiopathology. Interestingly, two distinct ITM2B mutations, both resulting in a longer protein product, had already been reported in two large autosomal dominant families with Alzheimer-like dementia but never in subjects with isolated retinal diseases. These findings should better define pathogenic mechanism(s) associated with ITM2B mutations underlying dementia or retinal disease and add a new candidate to the list of genes involved in inherited retinal dystrophies. PMID:24026677

Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; El Shamieh, Said; Sennlaub, Florian; Guillonneau, Xavier; Antonio, Aline; Michiels, Christelle; Lancelot, Marie-Elise; Letexier, Melanie; Saraiva, Jean-Paul; Nguyen, Hoan; Luu, Tien D; Léveillard, Thierry; Poch, Olivier; Dollfus, Hélčne; Paques, Michel; Goureau, Olivier; Mohand-Saďd, Saddek; Bhattacharya, Shomi S; Sahel, José-Alain; Zeitz, Christina

2014-01-15

114

Comparative venom gland transcriptome surveys of the saw-scaled vipers (Viperidae: Echis) reveal substantial intra-family gene diversity and novel venom transcripts  

PubMed Central

Background Venom variation occurs at all taxonomical levels and can impact significantly upon the clinical manifestations and efficacy of antivenom therapy following snakebite. Variation in snake venom composition is thought to be subject to strong natural selection as a result of adaptation towards specific diets. Members of the medically important genus Echis exhibit considerable variation in venom composition, which has been demonstrated to co-evolve with evolutionary shifts in diet. We adopt a venom gland transcriptome approach in order to investigate the diversity of toxins in the genus and elucidate the mechanisms which result in prey-specific adaptations of venom composition. Results Venom gland transcriptomes were created for E. pyramidum leakeyi, E. coloratus and E. carinatus sochureki by sequencing ~1000 expressed sequence tags from venom gland cDNA libraries. A standardised methodology allowed a comprehensive intra-genus comparison of the venom gland profiles to be undertaken, including the previously described E. ocellatus transcriptome. Blast annotation revealed the presence of snake venom metalloproteinases, C-type lectins, group II phopholipases A2, serine proteases, L-amino oxidases and growth factors in all transcriptomes throughout the genus. Transcripts encoding disintegrins, cysteine-rich secretory proteins and hyaluronidases were obtained from at least one, but not all, species. A representative group of novel venom transcripts exhibiting similarity to lysosomal acid lipase were identified from the E. coloratus transcriptome, whilst novel metallopeptidases exhibiting similarity to neprilysin and dipeptidyl peptidase III were identified from E. p. leakeyi and E. coloratus respectively. Conclusion The comparison of Echis venom gland transcriptomes revealed substantial intrageneric venom variation in representations and cluster numbers of the most abundant venom toxin families. The expression profiles of established toxin groups exhibit little obvious association with venom-related adaptations to diet described from this genus. We suggest therefore that alterations in isoform diversity or transcript expression levels within the major venom protein families are likely to be responsible for prey specificity, rather than differences in the representation of entire toxin families or the recruitment of novel toxin families, although the recruitment of lysosomal acid lipase as a response to vertebrate feeding cannot be excluded. Evidence of marked intrageneric venom variation within the medically important genus Echis strongly advocates further investigations into the medical significance of venom variation in this genus and its impact upon antivenom therapy.

2009-01-01

115

Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adults.  

PubMed

Heritable retinoblastoma is caused by oncogenic mutations in the RB1 tumor suppressor gene. Identification of these mutations in patients is important for genetic counseling and clinical management of relatives at risk. In order to lower analytical efforts, we designed a stepwise mutation detection strategy that was adapted to the spectrum of oncogenic RB1 gene mutations. We applied this strategy on 20 unrelated patients with familial and/or de novo bilateral retinoblastoma from Tunisia. In 19 (95%) patients, we detected oncogenic mutations including base substitutions, small length mutations, and large deletions. Further analyses on the origin of the mutations showed mutational mosaicism in one unilaterally affected father of a bilateral proband and incomplete penetrance in two mothers. In a large family with several retinoblastoma patients, the mutation identified in the index patient was also detected in several non-penetrant relatives. RNA analyses showed that this mutation results in an in-frame loss of exon 9. In summary, our strategy can serve as a model for RB1 mutation identification with high analytical sensitivity. Our results point out that genetic testing is needed to reveal or exclude incomplete penetrance specifically in parents of patients with sporadic disease. PMID:24810223

Ayari Jeridi, Hajer; Bouguila, Hédi; Ansperger-Rescher, Birgit; Baroudi, Olfa; Mdimegh, Imen; Omran, Ines; Charradi, Khaoula; Bouzayene, Hssan; Benammar-Elgaaďed, Amel; Lohmann, Dietmar R

2014-07-01

116

The Structure of RdDddP from Roseobacter denitrificans Reveals That DMSP Lyases in the DddP-Family Are Metalloenzymes  

PubMed Central

Marine microbes degrade dimethylsulfoniopropionate (DMSP), which is produced in large quantities by marine algae and plants, with DMSP lyases into acrylate and the gas dimethyl sulfide (DMS). Approximately 10% of the DMS vents from the sea into the atmosphere and this emission returns sulfur, which arrives in the sea through rivers and runoff, back to terrestrial systems via clouds and rain. Despite their key role in this sulfur cycle DMSP lyases are poorly understood at the molecular level. Here we report the first X-ray crystal structure of the putative DMSP lyase RdDddP from Roseobacter denitrificans, which belongs to the abundant DddP family. This structure, determined to 2.15 Ĺ resolution, shows that RdDddP is a homodimeric metalloprotein with a binuclear center of two metal ions located 2.7 Ĺ apart in the active site of the enzyme. Consistent with the crystallographic data, inductively coupled plasma mass spectrometry (ICP-MS) and total reflection X-ray fluorescence (TRXF) revealed the bound metal species to be primarily iron. A 3D structure guided analysis of environmental DddP lyase sequences elucidated the critical residues for metal binding are invariant, suggesting all proteins in the DddP family are metalloenzymes.

Hehemann, Jan-Hendrik; Law, Adrienne; Redecke, Lars; Boraston, Alisdair B.

2014-01-01

117

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

PubMed Central

Background 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. Results 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. Conclusions 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 factors promoted differentiation between the two major clades, while the recent and rapid species radiation in the temperate clade during Pleistocene glacial cycles coincided with several potential speciation drivers.

2011-01-01

118

Nucleotide sequence and characterization of the cryptic Bacillus thuringiensis plasmid pGI3 reveal a new family of rolling circle replicons.  

PubMed Central

The complete nucleotide sequence of plasmid pGI3 from Bacillus thuringiensis subsp. thuringiensis H1.1. was obtained. Although this 11,365-bp molecule contained at least 11 putative open reading frames (ORFs), extensive database searches did not reveal any homologous sequences with the exception of ORF6, which displayed similarity to the largest ORF of pSTK1, a 1,883-bp cryptic plasmid isolated from Bacillus stearothermophilus. Deletion analysis to determine the pGI3 minimal replicon revealed that ORF6 is the rep gene. Replication occurred via a single-stranded DNA (ssDNA) intermediate, as demonstrated by S1 treatment and Southern hybridization in nondenaturating conditions. Interestingly, however, no homology was found between the pGI3 (ORF6) and pSTK1 (ORF3) rep genes and those from other single-stranded DNA plasmids, nor was there any DNA similarity to the double-strand origins of replication characterized so far, indicating that pGI3 and pSTK1 form another, new family of ssDNA plasmids. PCR analysis revealed that the pGI3 rep gene is largely distributed among B. thuringiensis strains but can also be found in B. cereus and B. mycoides strains, albeit at a lower frequency. Finally, segregation experiments performed with B. subtilis and B. thuringiensis showed that the pGI3 derivatives, including the minimal replicon, were segregationally stable at temperatures suitable for B. thuringiensis growth (<43 degrees C).

Hoflack, L; Seurinck, J; Mahillon, J

1997-01-01

119

Non-monophyly and intricate morphological evolution within the avian family Cettiidae revealed by multilocus analysis of a taxonomically densely sampled dataset  

PubMed Central

Background The avian family Cettiidae, including the genera Cettia, Urosphena, Tesia, Abroscopus and Tickellia and Orthotomus cucullatus, has recently been proposed based on analysis of a small number of loci and species. The close relationship of most of these taxa was unexpected, and called for a comprehensive study based on multiple loci and dense taxon sampling. In the present study, we infer the relationships of all except one of the species in this family using one mitochondrial and three nuclear loci. We use traditional gene tree methods (Bayesian inference, maximum likelihood bootstrapping, parsimony bootstrapping), as well as a recently developed Bayesian species tree approach (*BEAST) that accounts for lineage sorting processes that might produce discordance between gene trees. We also analyse mitochondrial DNA for a larger sample, comprising multiple individuals and a large number of subspecies of polytypic species. Results There are many topological incongruences among the single-locus trees, although none of these is strongly supported. The multi-locus tree inferred using concatenated sequences and the species tree agree well with each other, and are overall well resolved and well supported by the data. The main discrepancy between these trees concerns the most basal split. Both methods infer the genus Cettia to be highly non-monophyletic, as it is scattered across the entire family tree. Deep intraspecific divergences are revealed, and one or two species and one subspecies are inferred to be non-monophyletic (differences between methods). Conclusions The molecular phylogeny presented here is strongly inconsistent with the traditional, morphology-based classification. The remarkably high degree of non-monophyly in the genus Cettia is likely to be one of the most extraordinary examples of misconceived relationships in an avian genus. The phylogeny suggests instances of parallel evolution, as well as highly unequal rates of morphological divergence in different lineages. This complex morphological evolution apparently misled earlier taxonomists. These results underscore the well-known but still often neglected problem of basing classifications on overall morphological similarity. Based on the molecular data, a revised taxonomy is proposed. Although the traditional and species tree methods inferred much the same tree in the present study, the assumption by species tree methods that all species are monophyletic is a limitation in these methods, as some currently recognized species might have more complex histories.

2011-01-01

120

Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations  

Microsoft Academic Search

A considerable fraction of families with HNPCC shows no germline mismatch repair (MMR) gene mutations. We previously detected ‘hidden’ MMR gene defects in 42% of such families, leaving the remaining 58% ‘truly’ mutation negative. Here, we characterized 50 colorectal carcinomas and five adenomas arising in HNPCC families; 24 truly MMR gene mutation negative and 31 MMR gene mutation positive. Among

Wael M Abdel-Rahman; Miina Ollikainen; Reetta Kariola; Heikki J Järvinen; Jukka-Pekka Mecklin; Minna Nyström-Lahti; Sakari Knuutila; Päivi Peltomäki

2005-01-01

121

Sequencing of Pax6 Loci from the Elephant Shark Reveals a Family of Pax6 Genes in Vertebrate Genomes, Forged by Ancient Duplications and Divergences  

PubMed Central

Pax6 is a developmental control gene essential for eye development throughout the animal kingdom. In addition, Pax6 plays key roles in other parts of the CNS, olfactory system, and pancreas. In mammals a single Pax6 gene encoding multiple isoforms delivers these pleiotropic functions. Here we provide evidence that the genomes of many other vertebrate species contain multiple Pax6 loci. We sequenced Pax6-containing BACs from the cartilaginous elephant shark (Callorhinchus milii) and found two distinct Pax6 loci. Pax6.1 is highly similar to mammalian Pax6, while Pax6.2 encodes a paired-less Pax6. Using synteny relationships, we identify homologs of this novel paired-less Pax6.2 gene in lizard and in frog, as well as in zebrafish and in other teleosts. In zebrafish two full-length Pax6 duplicates were known previously, originating from the fish-specific genome duplication (FSGD) and expressed in divergent patterns due to paralog-specific loss of cis-elements. We show that teleosts other than zebrafish also maintain duplicate full-length Pax6 loci, but differences in gene and regulatory domain structure suggest that these Pax6 paralogs originate from a more ancient duplication event and are hence renamed as Pax6.3. Sequence comparisons between mammalian and elephant shark Pax6.1 loci highlight the presence of short- and long-range conserved noncoding elements (CNEs). Functional analysis demonstrates the ancient role of long-range enhancers for Pax6 transcription. We show that the paired-less Pax6.2 ortholog in zebrafish is expressed specifically in the developing retina. Transgenic analysis of elephant shark and zebrafish Pax6.2 CNEs with homology to the mouse NRE/P? internal promoter revealed highly specific retinal expression. Finally, morpholino depletion of zebrafish Pax6.2 resulted in a “small eye” phenotype, supporting a role in retinal development. In summary, our study reveals that the pleiotropic functions of Pax6 in vertebrates are served by a divergent family of Pax6 genes, forged by ancient duplication events and by independent, lineage-specific gene losses.

Gautier, Philippe; Loosli, Felix; Tay, Boon-Hui; Tay, Alice; Murdoch, Emma; Coutinho, Pedro; van Heyningen, Veronica; Brenner, Sydney; Venkatesh, Byrappa; Kleinjan, Dirk A.

2013-01-01

122

Flecainide Provocation Reveals Concealed Brugada Syndrome in a Long QT Syndrome Family With a Novel L1786Q Mutation in SCN5A.  

PubMed

Background:?Mutations in SCN5A can result in both long QT type 3 (LQT3) and Brugada syndrome (BrS), and a few mutations have been found to have an overlapping phenotype. Long QT syndrome is characterized by prolonged QT interval, and a prerequisite for a BrS diagnosis is ST elevation in the right precordial leads of the electrocardiogram. Methods and Results:?In a Danish family suffering from long QT syndrome, a novel missense mutation in SCN5A, changing a leucine residue into a glutamine residue at position 1786 (L1786Q), was found to be present in heterozygous form co-segregating with prolonged QT interval. The proband presented with an aborted cardiac arrest, and his mother died suddenly and unexpectedly at the age of 65. Flecainide treatment revealed coved ST elevation in all mutation carriers. Electrophysiological investigations of the mutant in HEK293 cells indicated a reduced peak current, a negative shift in inactivation properties and a positive shift in activation properties, compatible with BrS. Furthermore, the sustained (INa,late) tetrodotoxin-sensitive sodium current was found to be drastically increased, explaining the association between the mutation and LQT syndrome. Conclusions:?The L1786Q mutation is associated with a combined LQT3 and concealed BrS phenotype explained by gating characteristics of the mutated ion channel protein. Hence, sodium channel blockade should be considered in clinical evaluation of apparent LQT3 patients.??(Circ J?2014; 78: 1136-1143). PMID:24599044

Kanters, Jřrgen K; Yuan, Lei; Hedley, Paula L; Stoevring, Birgitte; Jons, Christian; Bloch Thomsen, Poul Erik; Grunnet, Morten; Christiansen, Michael; Jespersen, Thomas

2014-04-25

123

Structure of the first representative of Pfam family PF09410 (DUF2006) reveals a structural signature of the calycin superfamily that suggests a role in lipid metabolism  

SciTech Connect

The first structural representative of the domain of unknown function DUF2006 family, also known as Pfam family PF09410, comprises a lipocalin-like fold with domain duplication. The finding of the calycin signature in the N-terminal domain, combined with remote sequence similarity to two other protein families (PF07143 and PF08622) implicated in isoprenoid metabolism and the oxidative stress response, support an involvement in lipid metabolism. Clusters of conserved residues that interact with ligand mimetics suggest that the binding and regulation sites map to the N-terminal domain and to the interdomain interface, respectively.

Chiu, Hsiu-Ju; Bakolitsa, Constantina; Skerra, Arne; Lomize, Andrei; Carlton, Dennis; Miller, Mitchell D.; Krishna, S. Sri; Abdubek, Polat; Astakhova, Tamara; Axelrod, Herbert L.; Clayton, Thomas; Deller, Marc C.; Duan, Lian; Feuerhelm, Julie; Grant, Joanna C.; Grzechnik, Slawomir K.; Han, Gye Won; Jaroszewski, Lukasz; Jin, Kevin K.; Klock, Heath E.; Knuth, Mark W.; Kozbial, Piotr; Kumar, Abhinav; Marciano, David; McMullan, Daniel; Morse, Andrew T.; Nigoghossian, Edward; Okach, Linda; Paulsen, Jessica; Reyes, Ron; Rife, Christopher L.; van den Bedem, Henry; Weekes, Dana; Xu, Qingping; Hodgson, Keith O.; Wooley, John; Elsliger, Marc-Andre; Deacon, Ashley M.; Godzik, Adam; Lesley, Scott A.; Wilson, Ian A. (SLAC); (Michigan); (U. Muchen)

2011-08-17

124

Structure of the first representative of Pfam family PF09410 (DUF2006) reveals a structural signature of the calycin superfamily that suggests a role in lipid metabolism  

PubMed Central

The first structural representative of the domain of unknown function DUF2006 family, also known as Pfam family PF09410, comprises a lipocalin-like fold with domain duplication. The finding of the calycin signature in the N-­terminal domain, combined with remote sequence similarity to two other protein families (PF07143 and PF08622) implicated in isoprenoid metabolism and the oxidative stress response, support an involvement in lipid metabolism. Clusters of conserved residues that interact with ligand mimetics suggest that the binding and regulation sites map to the N-terminal domain and to the interdomain interface, respectively.

Chiu, Hsiu-Ju; Bakolitsa, Constantina; Skerra, Arne; Lomize, Andrei; Carlton, Dennis; Miller, Mitchell D.; Krishna, S. Sri; Abdubek, Polat; Astakhova, Tamara; Axelrod, Herbert L.; Clayton, Thomas; Deller, Marc C.; Duan, Lian; Feuerhelm, Julie; Grant, Joanna C.; Grzechnik, Slawomir K.; Han, Gye Won; Jaroszewski, Lukasz; Jin, Kevin K.; Klock, Heath E.; Knuth, Mark W.; Kozbial, Piotr; Kumar, Abhinav; Marciano, David; McMullan, Daniel; Morse, Andrew T.; Nigoghossian, Edward; Okach, Linda; Paulsen, Jessica; Reyes, Ron; Rife, Christopher L.; van den Bedem, Henry; Weekes, Dana; Xu, Qingping; Hodgson, Keith O.; Wooley, John; Elsliger, Marc-Andre; Deacon, Ashley M.; Godzik, Adam; Lesley, Scott A.; Wilson, Ian A.

2010-01-01

125

Family Structure and Family Processes in Mexican American Families  

PubMed Central

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.

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

2010-01-01

126

Comparative and Evolutionary Analysis of the HES\\/HEY Gene Family Reveal Exon\\/Intron Loss and Teleost Specific Duplication Events  

Microsoft Academic Search

BackgroundHES\\/HEY genes encode a family of basic helix-loop-helix (bHLH) transcription factors with both bHLH and Orange domain. HES\\/HEY proteins are direct targets of the Notch signaling pathway and play an essential role in developmental decisions, such as the developments of nervous system, somitogenesis, blood vessel and heart. Despite their important functions, the origin and evolution of this HES\\/HEY gene family

Mi Zhou; Jun Yan; Zhaowu Ma; Yang Zhou; Nibras Najm Abbood; Jianfeng Liu; Li Su; Haibo Jia; An-Yuan Guo

2012-01-01

127

Genomewide Screening Reveals High Levels of Insertional Polymorphism in the Human Endogenous Retrovirus Family HERV-K(HML2): Implications for Present-Day Activity  

Microsoft Academic Search

104 per haploid genome per generation. Furthermore, we find that the number of polymorphic elements is not significantly different from that predicted by a standard population genetic model that assumes constant activity of the family until the present. This suggests to us that the HERV-K(HML2) family may be active in present-day humans. Active (replication-competent) elements are likely to have inserted

Robert Belshaw; Anna L. A. Dawson; John Woolven-Allen; Joanna Redding; Austin Burt; Michael Tristem

2005-01-01

128

The structure of SSO2064, the first representative of Pfam family PF01796, reveals a novel two-domain zinc-ribbon OB-fold architecture with a potential acyl-CoA-binding role  

PubMed Central

SSO2064 is the first structural representative of PF01796 (DUF35), a large prokaryotic family with a wide phylogenetic distribution. The structure reveals a novel two-domain architecture comprising an N-terminal, rubredoxin-like, zinc ribbon and a C-terminal, oligonucleotide/oligosaccharide-binding (OB) fold domain. Additional N-terminal helical segments may be involved in protein–protein interactions. Domain architectures, genomic context analysis and functional evidence from certain bacterial representatives of this family suggest that these proteins form a novel fatty-acid-binding component that is involved in the biosynthesis of lipids and polyketide antibiotics and that they possibly function as acyl-CoA-binding proteins. This structure has led to a re-evaluation of the DUF35 family, which has now been split into two entries in the latest Pfam release (v.24.0).

Krishna, S. Sri; Aravind, L.; Bakolitsa, Constantina; Caruthers, Jonathan; Carlton, Dennis; Miller, Mitchell D.; Abdubek, Polat; Astakhova, Tamara; Axelrod, Herbert L; Chiu, Hsiu-Ju; Clayton, Thomas; Deller, Marc C.; Duan, Lian; Feuerhelm, Julie; Grant, Joanna C.; Han, Gye Won; Jaroszewski, Lukasz; Jin, Kevin K.; Klock, Heath E.; Knuth, Mark W.; Kumar, Abhinav; Marciano, David; McMullan, Daniel; Morse, Andrew T.; Nigoghossian, Edward; Okach, Linda; Reyes, Ron; Rife, Christopher L.; van den Bedem, Henry; Weekes, Dana; Xu, Qingping; Hodgson, Keith O.; Wooley, John; Elsliger, Marc-Andre; Deacon, Ashley M.; Godzik, Adam; Lesley, Scott A.; Wilson, Ian A.

2010-01-01

129

Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation  

Microsoft Academic Search

The choice mechanisms that determine the future inactive X chromosome in somatic cells of female mammals involve the regulated expression of the XIST gene. A familial C(243)G mutation in the XIST promo- ter results in skewing of X chromosome inactivation (XCI) towards the inactive X chromosome of heterozy- gous females, whereas a C(243)A mutation found primarily in the active X

Elena Pugacheva; Vijay Kumar Tiwari; Ziedulla Abdullaev; Alexander A. Vostrov; Patrick T. Flanagan; Wolfgang W. Quitschke; Dmitri I. Loukinov; Rolf Ohlsson

2005-01-01

130

A one-generation cluster of malignant mesothelioma within a family reveals exposure to asbestos-contaminated jute bags in Naples, Italy  

Microsoft Academic Search

Substantial evidence supports the role of asbestos in malignant mesothelioma. Clustering for this malignancy among relatives not only suggests genetic susceptibility as a relevant component but also provides a clue to investigate non-occupational sources of exposure. We identified five cases of malignant mesothelioma within one family with exposure to asbestos experienced during childhood, as ‘next door’ residents of a workshop

V. Ascoli; C. Carnovale-Scalzo; F. Nardi; C. Efrati; M. Menegozzo

2003-01-01

131

A novel ?-xylosidase structure from Geobacillus thermoglucosidasius: the first crystal structure of a glycoside hydrolase family GH52 enzyme reveals unpredicted similarity to other glycoside hydrolase folds.  

PubMed

Geobacillus thermoglucosidasius is a thermophilic bacterium that is able to ferment both C6 and C5 sugars to produce ethanol. During growth on hemicellulose biomass, an intracellular ?-xylosidase catalyses the hydrolysis of xylo-oligosaccharides to the monosaccharide xylose, which can then enter the pathways of central metabolism. The gene encoding a G. thermoglucosidasius ?-xylosidase belonging to CAZy glycoside hydrolase family GH52 has been cloned and expressed in Escherichia coli. The recombinant enzyme has been characterized and a high-resolution (1.7?Ĺ) crystal structure has been determined, resulting in the first reported structure of a GH52 family member. A lower resolution (2.6?Ĺ) structure of the enzyme-substrate complex shows the positioning of the xylobiose substrate to be consistent with the proposed retaining mechanism of the family; additionally, the deep cleft of the active-site pocket, plus the proximity of the neighbouring subunit, afford an explanation for the lack of catalytic activity towards the polymer xylan. Whilst the fold of the G. thermoglucosidasius ?-xylosidase is completely different from xylosidases in other CAZy families, the enzyme surprisingly shares structural similarities with other glycoside hydrolases, despite having no more than 13% sequence identity. PMID:24816105

Espina, Giannina; Eley, Kirstin; Pompidor, Guillaume; Schneider, Thomas R; Crennell, Susan J; Danson, Michael J

2014-05-01

132

Molecular characterization and expression analysis of the Rab GTPase family in Vitis vinifera reveal the specific expression of a VvRabA protein  

Microsoft Academic Search

As a first step to investigate whether Rab GTPases are involved in grape berry development, the Vitis vinifera EST and gene databases were searched for members of the VvRab family. The grapevine genome was found to contain 26 VvRabs that could be distributed into all of the eight groups described in the literature for model plants. Genetic mapping was successfully

Philippe Abbal; Martine Pradal; Lisa Muniz; F.-X. Sauvage; P. Chatelet; T. Ueda; C. Tesniere

2008-01-01

133

Evaluation of the Phoenix 100 ID\\/AST System and NID Panel for Identification of Enterobacteriaceae, Vibrionaceae, and Commonly Isolated Nonenteric Gram-Negative Bacilli  

Microsoft Academic Search

The Phoenix 100 ID\\/AST system (Becton Dickinson Co., Sparks, Md.) is an automated system for the identification and antimicrobial susceptibility testing of bacterial isolates. This system with its negative identification (NID) panel was evaluated for its accuracy in the identification of 507 isolates of the family Enterobacteriaceae, 57 other nonenteric gram-negative isolates that are commonly isolated in clinical microbi- ology

Caroline M. O'Hara

2006-01-01

134

Conserved small RNAs govern replication and incompatibility of a diverse new plasmid family from marine bacteria  

PubMed Central

Plasmids are autonomously replicating extrachromosomal DNA molecules that often impart key phenotypes to their bacterial hosts. Plasmids are abundant in marine bacteria, but there is scant knowledge of the mechanisms that control their replication in these hosts. Here, we identified and characterized the factors governing replication of a new family of plasmids from marine bacteria, typified by the virulence-linked plasmid pB1067 of Vibrio nigripulchritudo. Members of this family are prevalent among, yet restricted to, the Vibrionaceae. Unlike almost all plasmid families characterized to date, the ori regions of these plasmids do not encode a Rep protein to initiate DNA replication; instead, the ori regions encode two partially complementary RNAs. The smaller, termed RNA I, is ?68-nt long and functions as a negative regulator and the key determinant of plasmid incompatibility. This Marine RNA-based (MRB) plasmid family is the first characterized family of replicons derived from marine bacteria. Only one other plasmid family (the ColE1 family) has previously been reported to rely on RNA-mediated replication initiation. However, since the sequences and structures of MRB RNA I transcripts are not related to those of ColE1 replicons, these two families of RNA-dependent replicons likely arose by convergent evolution.

Le Roux, Frederique; Davis, Brigid M.; Waldor, Matthew K.

2011-01-01

135

Analysis of four achaete-scute homologs in Bombyx mori reveals new viewpoints of the evolution and functions of this gene family  

Microsoft Academic Search

BACKGROUND: achaete-scute complexe (AS-C) has been widely studied at genetic, developmental and evolutional levels. Genes of this family encode proteins containing a highly conserved bHLH domain, which take part in the regulation of the development of central nervous system and peripheral nervous system. Many AS-C homologs have been isolated from various vertebrates and invertebrates. Also, AS-C genes are duplicated during

Qingxiang Zhou; Tianyi Zhang; Weihua Xu; Linlin Yu; Yongzhu Yi; Zhifang Zhang

2008-01-01

136

UPF201 Archaeal Specific Family Members Reveal Structural Similarity to RNA-Binding Proteins but Low Likelihood for RNA-Binding Function  

Microsoft Academic Search

We have determined X-ray crystal structures of four members of an archaeal specific family of proteins of unknown function (UPF0201; Pfam classification: DUF54) to advance our understanding of the genetic repertoire of archaea. Despite low pairwise amino acid sequence identities (10–40%) and the absence of conserved sequence motifs, the three-dimensional structures of these proteins are remarkably similar to one another.

Krishnamurthy N. Rao; Stephen K. Burley; Subramanyam Swaminathan; Bostjan Kobe

2008-01-01

137

Comparative Evolutionary Histories of the Fungal Chitinase Gene Family Reveal Non-Random Size Expansions and Contractions due to Adaptive Natural Selection  

PubMed Central

Gene duplication and loss play an important role in the evolution of novel functions and for shaping an organism’s gene content. Recently, it was suggested that stress-related genes frequently are exposed to duplications and losses, while growth-related genes show selection against change in copy number. The fungal chitinase gene family constitutes an interesting case study of gene duplication and loss, as their biological roles include growth and development as well as more stress-responsive functions. We used genome sequence data to analyze the size of the chitinase gene family in different fungal taxa, which range from 1 in Batrachochytrium dendrobatidis and Schizosaccharomyces pombe to 20 in Hypocrea jecorina and Emericella nidulans, and to infer their phylogenetic relationships. Novel chitinase subgroups are identified and their phylogenetic relationships with previously known chitinases are discussed. We also employ a stochastic birth and death model to show that the fungal chitinase gene family indeed evolves non-randomly, and we identify six fungal lineages where larger-than-expected expansions (Pezizomycotina, H. jecorina, Gibberella zeae, Uncinocarpus reesii, E. nidulans and Rhizopus oryzae), and two contractions (Coccidioides immitis and S. pombe) potentially indicate the action of adaptive natural selection. The results indicate that antagonistic fungal-fungal interactions are an important process for soil borne ascomycetes, but not for fungal species that are pathogenic in humans. Unicellular growth is correlated with a reduction of chitinase gene copy numbers which emphasizes the requirement of the combined action of several chitinases for filamentous growth.

Karlsson, Magnus; Stenlid, Jan

2008-01-01

138

Analysis of the WUSCHEL-RELATED HOMEOBOX gene family in the conifer picea abies reveals extensive conservation as well as dynamic patterns  

PubMed Central

Background Members of the WUSCHEL-RELATED HOMEOBOX (WOX) gene family have important functions during all stages of plant development and have been implicated in the development of morphological novelties during evolution. Most studies have examined the function of these genes in angiosperms and very little is known from other plant species. Results In this study we examine the presence and expression of WOX genes in the conifer Picea abies. We have cloned 11 WOX genes from both mRNA and genomic DNA and examined their phylogenetic relationship to WOX genes from other species as well as their expression during somatic embryogenesis and in adult tissues. Conclusions Our study shows that all major radiations within the WOX gene family took place before the angiosperm-gymnosperm split and that there has been a recent expansion within the intermediate clade in the Pinaceae family. Furthermore, we show that the genes from the intermediate clade are preferentially expressed during embryo development in Picea abies. Our data also indicates that there are clear orthologs of both WUS and WOX5 present in the P. abies genome.

2013-01-01

139

Genome-wide transcription profiles reveal genotype-dependent responses of biological pathways and gene-families in Daphnia exposed to single and mixed stressors  

PubMed Central

The present study investigated the possibilities and limitations of implementing a genome-wide transcription-based approach that takes into account genetic and environmental variation to better understand the response of natural populations to stressors. When exposing two different Daphnia pulex genotypes (a cadmium sensitive and a cadmium tolerant one) to cadmium, the toxic cyanobacteria Microcystis aeruginosa and their mixture, we found that observations at the transcriptomic level do not always explain observations at a higher level (growth, reproduction). For example, although cadmium elicited an adverse effect at the organismal level, almost no genes were differentially expressed after cadmium exposure. In addition, we identified oxidative stress and poly-unsaturated fatty acid metabolism-related pathways, as well as trypsin and neurexin IV gene-families as candidates for the underlying causes of genotypic differences in tolerance to Microcystis. Furthermore, the whole-genome transcriptomic data of a stressor mixture allowed a better understanding of mixture responses by evaluating interactions between two stressors at the gene-expression level against the independent action baseline model. This approach has indicated that ubiquinone pathway and the MAPK serine-threonine protein kinase and collagens gene-families were enriched with genes showing an interactive effect in expression response to exposure to the mixture of the stressors, while transcription and translation-related pathways and gene-families were mostly related with genotypic differences in interactive responses to this mixture. Collectively, our results indicate that the methods we employed may improve further characterization of the possibilities and limitations of transcriptomics approaches in the adverse outcome pathway framework and in predictions of multi-stressor effects on natural populations.

De Coninck, Dieter I.M.; Asselman, Jana; Glaholt, Stephen; Janssen, Colin R.; Colbourne, John K.; Shaw, Joseph R.; De Schamphelaere, Karel A.C.

2014-01-01

140

Crystal structure of a member of a novel family of dioxygenases (PF10014) reveals a conserved cupin fold and active site.  

PubMed

PF10014 is a novel family of 2-oxyglutarate-Fe(2+) -dependent dioxygenases that are involved in biosynthesis of antibiotics and regulation of biofilm formation, likely by catalyzing hydroxylation of free amino acids or other related ligands. The crystal structure of a PF10014 member from Methylibium petroleiphilum at 1.9 Ĺ resolution shows strong structural similarity to cupin dioxygenases in overall fold and active site, despite very remote homology. However, one of the ?-strands of the cupin catalytic core is replaced by a loop that displays conformational isomerism that likely regulates the active site. PMID:23852666

Xu, Qingping; Grant, Joanna; Chiu, Hsiu-Ju; Farr, Carol L; Jaroszewski, Lukasz; Knuth, Mark W; Miller, Mitchell D; Lesley, Scott A; Godzik, Adam; Elsliger, Marc-André; Deacon, Ashley M; Wilson, Ian A

2014-01-01

141

Characterization of Sulfolipids of Mycobacterium tuberculosis H37Rv by Multiple-stage Linear Ion-trap High Resolution Mass Spectrometry with Electrospray Ionization Reveals that Family of Sulfolipid II predominates  

PubMed Central

Mycobacterium tuberculosis, the causative agent of tuberculosis, is unique among bacterial pathogens in that it contains a wide array of complex lipids and lipoglycans on its cell wall. Among them, the sulfated glycolipid, termed sulfolipid is thought to mediate specific host pathogen interactions during infection. Sulfolipids (SLs) including sulfolipid I (SL-I) and sulfolipid II (SL-II) are 2,3,6,6'-tetraacyltrehalose 2'-sulfates. SL-I was identified as a family of homologous 2-palmitoyl(stearoyl)-3-phthioceranoyl, 6,6'-bis(hydroxyphthioceranoy1)-trehalose 2'-sulfate and was believed to be the principal sulfolipid of Mycobacterium tuberculosis strain H37Rv. We cultured and extracted sulfolipids using various conditions including those originally described and employed high-resolution multiple-stage linear ion-trap mass spectrometry with electrospray ionization to characterize the structure of the principal SL. We revealed that SL-II, a family of homologous 2-stearoyl(palmitoyl)-3,6,6'-tris(hydroxyphthioceranoy1)-trehalose2'-sulfates, rather than SL-I is the principal sulfolipid class. We identified a great number of isomers resulting from permutation of the various hydroxyphthioceranoyl substituents at 6- and 6'-position of the trehalose backbone for each of the SL-II species in the entire family. We redefined the structure of this important lipid family that was mis-assigned using the traditional methods 40 years ago.

Rhoades, Elizabeth R.; Streeter, Cassandra; Turk, John; Hsu, Fong-Fu

2011-01-01

142

Expression of cellulose synthase-like (Csl) genes in insect cells reveals that CslA family members encode mannan synthases  

PubMed Central

Glucuronoarabinoxylan, xyloglucan, and galactomannan are noncellulosic polysaccharides found in plant cell walls. All consist of ?-linked glycan backbones substituted with sugar side chains. Although considerable progress has been made in characterizing the structure of these polysaccharides, little is known about the biosynthetic enzymes that produce them. Cellulose synthase-like (Csl) genes are hypothesized to encode Golgi-localized ?-glycan synthases that polymerize the backbones of noncellulosic polysaccharides. To investigate this hypothesis, we used heterologous expression in Drosophila Schneider 2 (S2) cells to systematically analyze the functions of the gene products of a group of Csl genes from Arabidopsis and rice (Oryza sativa L.), including members from five Csl gene families (CslA, CslC, CslD, CslE, and CslH). Our analyses indicate that several members of the CslA gene family encode ?-mannan synthases. Recombinant CslA proteins produce ?-linked mannan polymers when supplied GDP-mannose. The same proteins can produce ?-linked glucomannan heteropolymers when supplied both GDP-mannose and GDP-glucose. One CslA protein also produced ?-linked glucan polymers when supplied GDP-glucose alone. Heterologous expression studies of additional candidate glycan synthases in insect cells or other systems may help identify other noncellulosic polysaccharide biosynthetic enzymes.

Liepman, Aaron H.; Wilkerson, Curtis G.; Keegstra, Kenneth

2005-01-01

143

Genome-wide microarrray analysis reveals roles for the REF-1 family member HLH-29 in ferritin synthesis and peroxide stress response.  

PubMed

In Caenorhabditis elegans, the six proteins that make up the REF-1 family have been identified as functional homologs of the Hairy/Enhancer of Split (HES) proteins. These transcription factors act in both Notch dependent and Notch-independent pathways to regulate embryonic events during development; however, their post-embryonic functions are not well defined. As a first step toward understanding how the REF-1 family works together to coordinate post-embryonic events, we used gene expression microarray analysis to identify transcriptional targets of HLH-29 in L4/young adult stage animals. Here we show that HLH-29 targets are genes needed for the regulation of growth and lifespan, including genes required for oxidative stress response and fatty acid metabolism, and the ferritin genes, ftn-1 and ftn-2. We show that HLH-29 regulates ftn-1 expression via promoter sequences upstream of the iron-dependent element that is recognized by the hypoxia inducible factor, HIF-1. Additionally, hlh-29 mutants are more resistant to peroxide stress than wild-type animals and ftn-1(RNAi) animals, even in the presence of excess iron. Finally we show that HLH-29 acts parallel to DAF-16 but upstream of the microphthalmia transcription factor ortholog, HLH-30, to regulate ftn-1 expression under normal growth conditions. PMID:23533643

Quach, Thanh K; Chou, Han Ting; Wang, Kun; Milledge, Gaolin Zheng; Johnson, Casonya M

2013-01-01

144

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.  

PubMed Central

Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified. Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations and from a new, more ethnically diverse panel. Among 90 symptomatic mutation-positive individuals, 11 mutations accounted for 79% of carrier chromosomes. Of the two mutations that are novel, one alters the same residue (680) as a previously known mutation, and the other (P369S) is located in exon 3. Consistent with another recent report, the E148Q mutation was observed in patients of several ethnicities and on multiple microsatellite haplotypes, but haplotype data indicate an ancestral relationships between non-Jewish Italian and Ashkenazi Jewish patients with FMF and other affected populations. Among approximately 200 anonymous Ashkenazi Jewish DNA samples, the MEFV carrier frequency was 21%, with E148Q the most common mutation. Several lines of evidence indicate reduced penetrance among Ashkenazi Jews, especially for E148Q, P369S, and K695R. Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF. The presence of three frequent MEFV mutations in multiple Mediterranean populations strongly suggests a heterozygote advantage in this geographic region.

Aksentijevich, I; Torosyan, Y; Samuels, J; Centola, M; Pras, E; Chae, J J; Oddoux, C; Wood, G; Azzaro, M P; Palumbo, G; Giustolisi, R; Pras, M; Ostrer, H; Kastner, D L

1999-01-01

145

Duplications on Human Chromosome 22 Reveal a Novel Ret Finger Protein-Like Gene Family with Sense and Endogenous Antisense Transcripts  

Microsoft Academic Search

Analysis of 600 kb of sequence encompassing the beta-prime adaptin (BAM22) gene on human chromosome 22 revealed intrachromosomal duplications within 22q12-13 resulting in three active RFPL genes, two RFPL pseudogenes, and two pseudogenes of BAM22. The genomic sequence of BAM22c1 shows a remarkable similarity to that of BAM22. The cDNA sequence comparison of RFPL1, RFPL2, and RFPL3 showed 95%-96% identity

Eyal Seroussi; Darek Kedra; Hua-Qin Pan; Myriam Peyrard; Charles Schwartz; Peter Scambler; Dian Donnai; Bruce A. Roe; Jan P. Dumanski

1999-01-01

146

Structural analysis of the L-alanoyl-D-glutamate endopeptidase domain of Listeria bacteriophage endolysin Ply500 reveals a new member of the LAS peptidase family.  

PubMed

Similar to many other bacterial cell-wall-hydrolyzing enzymes, the Listeria bacteriophage A500 endopeptidase Ply500 has a modular architecture consisting of an enzymatically active domain (EAD) linked to a cell-wall-binding domain (CBD) in a single polypeptide chain. The crystal structure of the EAD of Ply500 has been solved at 1.8 A resolution. The shape of the enzyme resembles a sofa chair: one alpha-helix and three antiparallel beta-strands form the seat, which is supported by two more alpha-helices, while another alpha-helix together with the following loop give rise to the backrest. A sulfate anion bound to the active site, which harbours a catalytic Zn2+ ion, indicates mechanistic details of the peptidase reaction, which involves a tetrahedral transition state. Despite very low sequence similarity, a clear structural relationship was detected to the peptidases VanX, DDC, MSH and MepA, which belong to the so-called 'LAS' family. Their gross functional similarity is supported by a common bound Zn2+ ion and a highly conserved set of coordinating residues (His80, Asp87 and His133) as well as other side chains (Arg50, Gln55, Ser78 and Asp130) in the active site. Considering the high sequence similarity to the EAD of the Listeria phage endopeptidase Ply118, both enzymes can thus be assigned to the LAS family. The same is the case for the L,D-endopeptidase CwlK from Bacillus subtilis, which shows both functional and amino-acid sequence similarity. The fact that the CBD of Ply500 is closely homologous to the CBD of the Listeria phage N-acetylmuramoyl-L-alanine amidase PlyPSA, which exhibits a totally different EAD, illustrates the modular composition and functional variability of this class of enzymes and opens interesting possibilities for protein engineering. PMID:18560152

Korndörfer, Ingo P; Kanitz, Alexander; Danzer, Josef; Zimmer, Markus; Loessner, Martin J; Skerra, Arne

2008-06-01

147

A proteomic approach reveals transient association of reticulocalbin-3, a novel member of the CREC family, with the precursor of subtilisin-like proprotein convertase, PACE4.  

PubMed

SPCs (subtilisin-like proprotein convertases) are a family of seven structurally related serine endoproteases that are involved in the proteolytic activation of proproteins. In an effort to examine the substrate protein for PACE4 (paired basic amino-acid-cleaving enzyme-4), an SPC, a potent protein inhibitor of PACE4, an alpha1-antitrypsin RVRR (Arg-Val-Arg-Arg) variant, was expressed in GH4C1 cells. Ectopic expression of the RVRR variant caused accumulation of the 48 kDa protein in cells. Sequence analysis indicates that the 48 kDa protein is a putative Ca2+-binding protein, RCN-3 (reticulocalbin-3), which had previously been predicted by bioinformatic analysis of cDNA from the human hypothalamus. RCN-3 is a member of the CREC (Cab45/reticulocalbin/ERC45/calumenin) family of multiple EF-hand Ca2+-binding proteins localized to the secretory pathway. The most interesting feature of the RCN-3 sequence is the presence of five Arg-Xaa-Xaa-Arg motifs, which represents the target sequence of SPCs. Biosynthetic studies showed that RCN-3 is transiently associated with proPACE4, but not with mature PACE4. Inhibition of PACE4 maturation by a Ca2+ ionophore resulted in accumulation of the proPACE4-RCN-3 complex in cells. Furthermore, autoactivation and secretion of PACE4 was increased upon co-expression with RCN-3. Our findings suggest that selective and transient association of RCN-3 with the precursor of PACE4 plays an important role in the biosynthesis of PACE4. PMID:16433634

Tsuji, Akihiko; Kikuchi, Yayoi; Sato, Yukimi; Koide, Shizuyo; Yuasa, Keizo; Nagahama, Masami; Matsuda, Yoshiko

2006-05-15

148

Protein Phosphatase 2B (PP2B, Calcineurin) in Paramecium: Partial Characterization Reveals That Two Members of the Unusually Large Catalytic Subunit Family Have Distinct Roles in Calcium-Dependent Processes?‡  

PubMed Central

We characterized the calcineurin (CaN) gene family, including the subunits CaNA and CaNB, based upon sequence information obtained from the Paramecium genome project. Paramecium tetraurelia has seven subfamilies of the catalytic CaNA subunit and one subfamily of the regulatory CaNB subunit, with each subfamily having two members of considerable identity on the amino acid level (?55% between subfamilies, ?94% within CaNA subfamilies, and full identity in the CaNB subfamily). Within CaNA subfamily members, the catalytic domain and the CaNB binding region are highly conserved and molecular modeling revealed a three-dimensional structure almost identical to a human ortholog. At 14 members, the size of the CaNA family is unprecedented, and we hypothesized that the different CaNA subfamily members were not strictly redundant and that at least some fulfill different roles in the cell. This was tested by selecting two phylogenetically distinct members of this large family for posttranscriptional silencing by RNA interference. The two targets resulted in differing effects in exocytosis, calcium dynamics, and backward swimming behavior that supported our hypothesis that the large, highly conserved CaNA family members are not strictly redundant and that at least two members have evolved diverse but overlapping functions. In sum, the occurrence of CaN in Paramecium spp., although disputed in the past, has been established on a molecular level. Its role in exocytosis and ciliary beat regulation in a protozoan, as well as in more complex organisms, suggests that these roles for CaN were acquired early in the evolution of this protein family.

Fraga, D.; Sehring, I. M.; Kissmehl, R.; Reiss, M.; Gaines, R.; Hinrichsen, R.; Plattner, H.

2010-01-01

149

The Arf Family GTPase Arl4A Complexes with ELMO Proteins to Promote Actin Cytoskeleton Remodeling and Reveals a Versatile Ras-binding Domain in the ELMO Proteins Family*  

PubMed Central

The prototypical DOCK protein, DOCK180, is an evolutionarily conserved Rac regulator and is indispensable during processes such as cell migration and myoblast fusion. The biological activity of DOCK180 is tightly linked to its binding partner ELMO. We previously reported that autoinhibited ELMO proteins regulate signaling from this pathway. One mechanism to activate the ELMO-DOCK180 complex appears to be the recruitment of this complex to the membrane via the Ras-binding domain (RBD) of ELMO. In the present study, we aimed to identify novel ELMO-interacting proteins to further define the molecular events capable of controlling ELMO recruitment to the membrane. To do so, we performed two independent interaction screens: one specifically interrogated an active GTPase library while the other probed a brain cDNA library. Both methods converged on Arl4A, an Arf-related GTPase, as a specific ELMO interactor. Biochemically, Arl4A is constitutively GTP-loaded, and our binding assays confirm that both wild-type and constitutively active forms of the GTPase associate with ELMO. Mechanistically, we report that Arl4A binds the ELMO RBD and acts as a membrane localization signal for ELMO. In addition, we report that membrane targeting of ELMO via Arl4A promotes cytoskeletal reorganization including membrane ruffling and stress fiber disassembly via an ELMO-DOCK1800-Rac signaling pathway. We conclude that ELMO is capable of interacting with GTPases from Rho and Arf families, leading to the conclusion that ELMO contains a versatile RBD. Furthermore, via binding of an Arf family GTPase, the ELMO-DOCK180 is uniquely positioned at the membrane to activate Rac signaling and remodel the actin cytoskeleton.

Patel, Manishha; Chiang, Tsai-Chen; Tran, Viviane; Lee, Fang-Jen S.; Cote, Jean-Francois

2011-01-01

150

Molecular analysis of pDL10 from Acidianus ambivalens reveals a family of related plasmids from extremely thermophilic and acidophilic archaea.  

PubMed Central

The 7598-bp plasmid pDL10 from the extremely thermophilic, acidophilic, and chemolithoautotrophic Archaeon Acidianus ambivalens was sequenced. It contains 10 open reading frames (ORFs) organized in five putative operons. The deduced amino acid sequence of the largest ORF (909 aa) showed similarity to bacterial Rep proteins known from phages and plasmids with rolling-circle (RC) replication. From the comparison of the amino acid sequences, a novel family of RC Rep proteins was defined. The pDL10 Rep protein shared 45-80% identical residues with homologous protein genes encoded by the Sulfolobus islandicus plasmids pRN1 and pRN2. Two DNA regions capable of forming extended stem-loop structures were also conserved in the three plasmids (48-69% sequence identity). In addition, a putative plasmid regulatory protein gene (plrA) was found, which was conserved among the three plasmids and the conjugative Sulfolobus plasmid pNOB8. A homolog of this gene was also found in the chromosome of S. solfataricus. Single-stranded DNA of both pDL10 strands was detected with a mung bean nuclease protection assay using PCR detection of protected fragments, giving additional evidence for an RC mechanism of replication.

Kletzin, A; Lieke, A; Urich, T; Charlebois, R L; Sensen, C W

1999-01-01

151

Analysis of Familial Hemophagocytic Lymphohistiocytosis Type 4 (FHL-4) Mutant Proteins Reveals that S-Acylation Is Required for the Function of Syntaxin 11 in Natural Killer Cells  

PubMed Central

Natural killer (NK) cell secretory lysosome exocytosis and cytotoxicity are impaired in familial hemophagocytic lymphohistiocytosis type 4 (FHL-4), a disorder caused by mutations in the gene encoding the SNARE protein syntaxin 11. We show that syntaxin 11 binds to SNAP23 in NK cells and that this interaction is reduced by FHL-4 truncation and frameshift mutation proteins that delete all or part of the SNARE domain of syntaxin 11. In contrast the FHL-4 mutant proteins bound to the Sec-1/Munc18-like (SM) protein Munc18-2. We demonstrate that the C-terminal cysteine rich region of syntaxin 11, which is deleted in the FHL-4 mutants, is S-acylated. This posttranslational modification is required for the membrane association of syntaxin 11 and for its polarization to the immunological synapse in NK cells conjugated to target cells. Moreover, we show that Munc18-2 is recruited by syntaxin 11 to intracellular membranes in resting NK cells and to the immunological synapse in activated NK cells. This recruitment of Munc18-2 is abolished by deletion of the C-terminal cysteine rich region of syntaxin 11. These results suggest a pivotal role for S-acylation in the function of syntaxin 11 in NK cells.

Hellewell, Andrew L.; Foresti, Ombretta; Gover, Nicola; Porter, Morwenna Y.; Hewitt, Eric W.

2014-01-01

152

Translocation and functional analysis of Pseudomonas savastanoi pv. savastanoi NCPPB 3335 type III secretion system effectors reveals two novel effector families of the Pseudomonas syringae complex.  

PubMed

Pseudomonas savastanoi pv. savastanoi NCPPB 3335 causes olive knot disease and is a model pathogen for exploring bacterial infection of woody hosts. The type III secretion system (T3SS) effector repertoire of this strain includes 31 effector candidates plus two novel candidates identified in this study which have not been reported to translocate into plant cells. In this work, we demonstrate the delivery of seven NCPPB 3335 effectors into Nicotiana tabacum leaves, including three proteins from two novel families of the P. syringae complex effector super-repertoire (HopBK and HopBL), one of which comprises two proteins (HopBL1 and HopBL2) that harbor a SUMO protease domain. When delivered by P. fluorescens heterologously expressing a P. syringae T3SS, all seven effectors were found to suppress the production of defense-associated reactive oxygen species. Moreover, six of these effectors, including the truncated versions of HopAA1 and HopAZ1 encoded by NCPPB 3335, suppressed callose deposition. The expression of HopAZ1 and HopBL1 by functionally effectorless P. syringae pv. tomato DC3000D28E inhibited the hypersensitive response in tobacco and, additionally, expression of HopBL2 by this strain significantly increased its competitiveness in N. benthamiana. DNA sequences encoding HopBL1 and HopBL2 were uniquely detected in a collection of 31 P. savastanoi pv. savastanoi strains and other P. syringae strains isolated from woody hosts, suggesting a relevant role of these two effectors in bacterial interactions with olive and other woody plants. PMID:24329173

Matas, Isabel M; Castańeda-Ojeda, M Pilar; Aragón, Isabel M; Antúnez-Lamas, María; Murillo, Jesús; Rodríguez-Palenzuela, Pablo; López-Solanilla, Emilia; Ramos, Cayo

2014-05-01

153

Gustatory expression pattern of the human TAS2R bitter receptor gene family reveals a heterogenous population of bitter responsive taste receptor cells.  

PubMed

Human bitter taste is mediated by approximately 25 members of the human TAS2 receptor (hTAS2R) gene family. The hTAS2R genes are expressed in taste buds of gustatory papillae on the tongue surface. Because many naturally occurring bitter compounds are toxic, bitter taste receptors are believed to serve as warning sensors against the ingestion of toxic food compounds. An important question is whether bitter taste receptor cells are a homogeneous, broadly tuned population of cells, which uniformly express all bitter taste receptor genes, or not. Gene expression analyses in rodents demonstrated an essentially overlapping expression of TAS2R genes indicating a broad tuning, whereas functional in vivo analyses suggest a narrow tuning. The present study demonstrates the expression of all 25 human TAS2R genes in taste receptor cells of human circumvallate papillae. As shown by in situ hybridization experiments, the expression of hTAS2R genes differs in both the apparent level of expression and the number of taste receptor cells expressing these genes, suggesting a heterogeneous bitter taste receptor cell population. Differences in gene expression levels were verified by quantitative reverse transcription-PCR experiments for a subset of hTAS2R genes. Direct evidence for the heterogeneity of bitter taste receptor cells is provided by dual-labeling in situ hybridizations with selected pairs of hTAS2R gene-specific probes. Functional coexpression experiments in heterologous cells show competition among hTAS2Rs, indicating a possible biological reason for the observed expression pattern. From the data, we conclude that human bitter taste receptor cells are tuned to detect a limited subset of bitter stimuli. PMID:18003842

Behrens, Maik; Foerster, Susann; Staehler, Frauke; Raguse, Jan-Dirk; Meyerhof, Wolfgang

2007-11-14

154

Cold Adaptation of Zinc Metalloproteases in the Thermolysin Family from Deep Sea and Arctic Sea Ice Bacteria Revealed by Catalytic and Structural Properties and Molecular Dynamics  

PubMed Central

Increased conformational flexibility is the prevailing explanation for the high catalytic efficiency of cold-adapted enzymes at low temperatures. However, less is known about the structural determinants of flexibility. We reported two novel cold-adapted zinc metalloproteases in the thermolysin family, vibriolysin MCP-02 from a deep sea bacterium and vibriolysin E495 from an Arctic sea ice bacterium, and compared them with their mesophilic homolog, pseudolysin from a terrestrial bacterium. Their catalytic efficiencies, kcat/Km (10–40 °C), followed the order pseudolysin < MCP-02 < E495 with a ratio of ?1:2:4. MCP-02 and E495 have the same optimal temperature (Topt, 57 °C, 5 °C lower than pseudolysin) and apparent melting temperature (Tm = 64 °C, ?10 °C lower than pseudolysin). Structural analysis showed that the slightly lower stabilities resulted from a decrease in the number of salt bridges. Fluorescence quenching experiments and molecular dynamics simulations showed that the flexibilities of the proteins were pseudolysin < MCP-02 < E495, suggesting that optimization of flexibility is a strategy for cold adaptation. Molecular dynamics results showed that the ordinal increase in flexibility from pseudolysin to MCP-02 and E495, especially the increase from MCP-02 to E495, mainly resulted from the decrease of hydrogen-bond stability in the dynamic structure, which was due to the increase in asparagine, serine, and threonine residues. Finally, a model for the cold adaptation of MCP-02 and E495 was proposed. This is the first report of the optimization of hydrogen-bonding dynamics as a strategy for cold adaptation and provides new insights into the structural basis underlying conformational flexibility.

Xie, Bin-Bin; Bian, Fei; Chen, Xiu-Lan; He, Hai-Lun; Guo, Jun; Gao, Xiang; Zeng, Yin-Xin; Chen, Bo; Zhou, Bai-Cheng; Zhang, Yu-Zhong

2009-01-01

155

Metabolic engineering of raffinose-family oligosaccharides in the phloem reveals alterations in carbon partitioning and enhances resistance to green peach aphid  

PubMed Central

Many plants employ energized loading strategies to accumulate osmotically-active solutes into the phloem of source organs to accentuate the hydrostatic pressure gradients that drive the flow of water, nutrients and signals from source to sinks. Proton-coupled symport of sugars from the apoplasm into the phloem symplasm is the best studied phloem-loading mechanism. As an alternative, numerous species use a polymer trapping mechanism to load through symplasm: sucrose enters the phloem through specialized plasmodesmata and is converted to raffinose-family oligosaccharides (RFOs) which accumulate because of their larger size. In this study, metabolic engineering was used to generate RFOs at the inception of the translocation stream of Arabidopsis thaliana, which loads from the apoplasm and transports predominantly sucrose, and the fate of the sugars throughout the plant determined. Three genes, GALACTINOL SYNTHASE, RAFFINOSE SYNTHASE and STACHYOSE SYNTHASE, were expressed from promoters specific to the companion cells of minor veins. Two transgenic lines homozygous for all three genes (GRS63 and GRS47) were selected for further analysis. Three-week-old plants of both lines had RFO levels approaching 50% of total soluble sugar. RFOs were also identified in exudates from excised leaves of transgenic plants whereas levels were negligible in exudates from wild type (WT) leaves. Differences in starch accumulation between WT and GRS63 and GRS47 lines were not observed. Similarly, there were no differences in vegetative growth between WT and engineered plants, but the latter flowered slightly earlier. Finally, since the sugar composition of the translocation stream appeared altered, we tested for an impact on green peach aphid (Myzus persicae Sulzer) feeding. When given a choice between WT and transgenic plants, green peach aphids preferred settling on the WT plants. Furthermore, green peach aphid fecundity was lower on the transgenic plants compared to the WT plants. When added to an artificial diet, RFOs did not have a negative effect on aphid fecundity, suggesting that although aphid resistance in the transgenic plants is enhanced, it is not due to direct toxicity of RFO toward the insect.

Cao, Te; Lahiri, Ipsita; Singh, Vijay; Louis, Joe; Shah, Jyoti; Ayre, Brian G.

2013-01-01

156

Domain analyses reveal that Chlamydia trachomatis CT694 protein belongs to the membrane-localized family of type III effector proteins.  

PubMed

The Chlamydia trachomatis type three-secreted effector protein CT694 is expressed during late-cycle development yet is secreted by infectious particles during the invasion process. We have previously described the presence of at least two functional domains within CT694. CT694 was found to interact with the human protein Ahnak through a C-terminal domain and affect formation of host-cell actin stress fibers. Immunolocalization analyses of ectopically expressed pEGFP-CT694 also revealed plasma membrane localization for CT694 that was independent of Ahnak binding. Here we provide evidence that CT694 contains multiple functional domains. Plasma membrane localization and CT694-induced alterations in host cell morphology are dependent on an N-terminal domain. We demonstrate that membrane association of CT694 is dependent on a domain resembling a membrane localization domain (MLD) found in anti-host proteins from Yersinia, Pseudomonas, and Salmonella spp. This domain is necessary and sufficient for localization and morphology changes but is not required for Ahnak binding. Further, the CT694 MLD is able to complement ExoS ?MLD when ectopically expressed. Taken together, our data indicate that CT694 is a multidomain protein with the potential to modulate multiple host cell processes. PMID:22711538

Bullock, Holly D; Hower, Suzanne; Fields, Kenneth A

2012-08-10

157

Complete Proteomic-Based Enzyme Reaction and Inhibition Kinetics Reveal How Monolignol Biosynthetic Enzyme Families Affect Metabolic Flux and Lignin in Populus trichocarpa.  

PubMed

We established a predictive kinetic metabolic-flux model for the 21 enzymes and 24 metabolites of the monolignol biosynthetic pathway using Populus trichocarpa secondary differentiating xylem. To establish this model, a comprehensive study was performed to obtain the reaction and inhibition kinetic parameters of all 21 enzymes based on functional recombinant proteins. A total of 104 Michaelis-Menten kinetic parameters and 85 inhibition kinetic parameters were derived from these enzymes. Through mass spectrometry, we obtained the absolute quantities of all 21 pathway enzymes in the secondary differentiating xylem. This extensive experimental data set, generated from a single tissue specialized in wood formation, was used to construct the predictive kinetic metabolic-flux model to provide a comprehensive mathematical description of the monolignol biosynthetic pathway. The model was validated using experimental data from transgenic P. trichocarpa plants. The model predicts how pathway enzymes affect lignin content and composition, explains a long-standing paradox regarding the regulation of monolignol subunit ratios in lignin, and reveals novel mechanisms involved in the regulation of lignin biosynthesis. This model provides an explanation of the effects of genetic and transgenic perturbations of the monolignol biosynthetic pathway in flowering plants. PMID:24619611

Wang, Jack P; Naik, Punith P; Chen, Hsi-Chuan; Shi, Rui; Lin, Chien-Yuan; Liu, Jie; Shuford, Christopher M; Li, Quanzi; Sun, Ying-Hsuan; Tunlaya-Anukit, Sermsawat; Williams, Cranos M; Muddiman, David C; Ducoste, Joel J; Sederoff, Ronald R; Chiang, Vincent L

2014-03-01

158

Cloning and sequencing of the kedarcidin biosynthetic gene cluster from Streptoalloteichus sp. ATCC 53650 revealing new insights into biosynthesis of the enediyne family of antitumor antibiotics†  

PubMed Central

Enediyne natural product biosynthesis is characterized by a convergence of multiple pathways, generating unique peripheral moieties that are appended onto the distinctive enediyne core. Kedarcidin (KED) possesses two unique peripheral moieties, a (R)-2-aza-3-chloro-?-tyrosine and an iso-propoxy-bearing 2-naphthonate moiety, as well as two deoxysugars. The appendage pattern of these peripheral moieties to the enediyne core in KED differs from the other enediynes studied to date with respect to stereochemical configuration. To investigate the biosynthesis of these moieties and expand our understanding of enediyne core formation, the biosynthetic gene cluster for KED was cloned from Streptoalloteichus sp. ATCC 53650 and sequenced. Bioinformatics analysis of the ked cluster revealed the presence of the conserved genes encoding for enediyne core biosynthesis, type I and type II polyketide synthase loci likely responsible for 2-aza-L-tyrosine and 3,6,8-trihydroxy-2-naphthonate formation, and enzymes known for deoxysugar biosynthesis. Genes homologous to those responsible for the biosynthesis, activation, and coupling of the L-tyrosine-derived moieties from C-1027 and maduropeptin and of the naphthonate moiety from neocarzinostatin are present in the ked cluster, supporting 2-aza-L-tyrosine and 3,6,8-trihydroxy-2-naphthoic acid as precursors, respectively, for the (R)-2-aza-3-chloro-?-tyrosine and the 2-naphthonate moieties in KED biosynthesis.

Lohman, Jeremy R.; Huang, Sheng-Xiong; Horsman, Geoffrey P.; Dilfer, Paul E.; Huang, Tingting; Chen, Yihua; Wendt-Pienkowski, Evelyn; Shen, Ben

2013-01-01

159

Family Arguments  

MedlinePLUS

... Healthy Children > Family Life > Family Dynamics > Family Arguments Family Life Listen Family Arguments Article Body We seem to have a lot of arguments in our family. Is this normal? Disputes between you and your ...

160

A New Family of Membrane Electron Transporters and Its Substrates, Including a New Cell Envelope Peroxiredoxin, Reveal a Broadened Reductive Capacity of the Oxidative Bacterial Cell Envelope  

PubMed Central

ABSTRACT The Escherichia coli membrane protein DsbD functions as an electron hub that dispatches electrons received from the cytoplasmic thioredoxin system to periplasmic oxidoreductases involved in protein disulfide isomerization, cytochrome c biogenesis, and sulfenic acid reduction. Here, we describe a new class of DsbD proteins, named ScsB, whose members are found in proteobacteria and Chlamydia. ScsB has a domain organization similar to that of DsbD, but its amino-terminal domain differs significantly. In DsbD, this domain directly interacts with substrates to reduce them, which suggests that ScsB acts on a different array of substrates. Using Caulobacter crescentus as a model organism, we searched for the substrates of ScsB. We discovered that ScsB provides electrons to the first peroxide reduction pathway identified in the bacterial cell envelope. The reduction pathway comprises a thioredoxin-like protein, TlpA, and a peroxiredoxin, PprX. We show that PprX is a thiol-dependent peroxidase that efficiently reduces both hydrogen peroxide and organic peroxides. Moreover, we identified two additional proteins that depend on ScsB for reduction, a peroxiredoxin-like protein, PrxL, and a novel protein disulfide isomerase, ScsC. Altogether, our results reveal that the array of proteins involved in reductive pathways in the oxidative cell envelope is significantly broader than was previously thought. Moreover, the identification of a new periplasmic peroxiredoxin indicates that in some bacteria, it is important to directly scavenge peroxides in the cell envelope even before they reach the cytoplasm.

Cho, Seung-Hyun; Parsonage, Derek; Thurston, Casey; Dutton, Rachel J.; Poole, Leslie B.; Collet, Jean-Francois; Beckwith, Jon

2012-01-01

161

Structures of the first representatives of Pfam family PF06684 (DUF1185) reveal a novel variant of the Bacillus chorismate mutase fold and suggest a role in amino-acid metabolism  

PubMed Central

The crystal structures of BB2672 and SPO0826 were determined to resolutions of 1.7 and 2.1?Ĺ by single-wavelength anomalous dispersion and multiple-wavelength anomalous dispersion, respectively, using the semi-automated high-throughput pipeline of the Joint Center for Structural Genomics (JCSG) as part of the NIGMS Protein Structure Initiative (PSI). These proteins are the first structural representatives of the PF06684 (DUF1185) Pfam family. Structural analysis revealed that both structures adopt a variant of the Bacillus chorismate mutase fold (BCM). The biological unit of both proteins is a hexamer and analysis of homologs indicates that the oligomer interface residues are highly conserved. The conformation of the critical regions for oligomerization appears to be dependent on pH or salt concentration, suggesting that this protein might be subject to environmental regulation. Structural similarities to BCM and genome-context analysis suggest a function in amino-acid synthesis.

Bakolitsa, Constantina; Kumar, Abhinav; Jin, Kevin K.; McMullan, Daniel; Krishna, S. Sri; Miller, Mitchell D.; Abdubek, Polat; Acosta, Claire; Astakhova, Tamara; Axelrod, Herbert L.; Burra, Prasad; Carlton, Dennis; Chen, Connie; Chiu, Hsiu-Ju; Clayton, Thomas; Das, Debanu; Deller, Marc C.; Duan, Lian; Elias, Ylva; Ellrott, Kyle; Ernst, Dustin; Farr, Carol L.; Feuerhelm, Julie; Grant, Joanna C.; Grzechnik, Anna; Grzechnik, Slawomir K.; Han, Gye Won; Jaroszewski, Lukasz; Johnson, Hope A.; Klock, Heath E.; Knuth, Mark W.; Kozbial, Piotr; Marciano, David; Morse, Andrew T.; Murphy, Kevin D.; Nigoghossian, Edward; Nopakun, Amanda; Okach, Linda; Paulsen, Jessica; Puckett, Christina; Reyes, Ron; Rife, Christopher L.; Sefcovic, Natasha; Tien, Henry J.; Trame, Christine B.; Trout, Christina V.; van den Bedem, Henry; Weekes, Dana; White, Aprilfawn; Xu, Qingping; Hodgson, Keith O.; Wooley, John; Elsliger, Marc-Andre; Deacon, Ashley M.; Godzik, Adam; Lesley, Scott A.; Wilson, Ian A.

2010-01-01

162

Analysis of the Arabidopsis rsr4-1/pdx1-3 Mutant Reveals the Critical Function of the PDX1 Protein Family in Metabolism, Development, and Vitamin B6 Biosynthesis[W  

PubMed Central

Vitamin B6 represents a highly important group of compounds ubiquitous in all living organisms. It has been demonstrated to alleviate oxidative stress and in its phosphorylated form participates as a cofactor in >100 biochemical reactions. By means of a genetic approach, we have identified a novel mutant, rsr4-1 (for reduced sugar response), with aberrant root and leaf growth that requires supplementation of vitamin B6 for normal development. Cloning of the mutated gene revealed that rsr4-1 carries a point mutation in a member of the PDX1/SOR1/SNZ (for Pyridoxine biosynthesis protein 1/Singlet oxygen resistant 1/Snooze) family that leads to reduced vitamin B6 content. Consequently, metabolism is broadly altered, mainly affecting amino acid, raffinose, and shikimate contents and trichloroacetic acid cycle constituents. Yeast two-hybrid and pull-down analyses showed that Arabidopsis thaliana PDX1 proteins can form oligomers. Interestingly, the mutant form of PDX1 has severely reduced capability to oligomerize, potentially suggesting that oligomerization is important for function. In summary, our results demonstrate the critical function of the PDX1 protein family for metabolism, whole-plant development, and vitamin B6 biosynthesis in higher plants.

Wagner, Susan; Bernhardt, Anne; Leuendorf, Jan Erik; Drewke, Christel; Lytovchenko, Anna; Mujahed, Nader; Gurgui, Cristian; Frommer, Wolf B.; Leistner, Eckhard; Fernie, Alisdair R.; Hellmann, Hanjo

2006-01-01

163

Structure-function analysis of the Z-DNA-binding domain Zalpha of dsRNA adenosine deaminase type I reveals similarity to the (alpha + beta) family of helix-turn-helix proteins.  

PubMed Central

RNA editing alters pre-mRNA through site-selective adenosine deamination, which results in codon changes that lead to the production of novel proteins. An enzyme that catalyzes this reaction, double-stranded RNA adenosine deaminase (ADAR1), contains two N-terminal Z-DNA-binding motifs, Zalpha and Zbeta, the function of which is as yet unknown. In this study, multidimensional NMR spectroscopy was used to show that the topology of Zalpha is alpha1beta1alpha2alpha3beta2beta3. Long-range NOEs indicate that beta1 and beta3 interact with each other. Site-directed mutagenesis was used to identify residues in alpha3, beta3 and the loop connecting beta2 to beta3 that affect Z-DNA binding. Also identified were 11 hydrophobic residues that are essential for protein stability. Comparison with known structures reveals some similarity between Zalpha and (alpha + beta) helix-turn-helix proteins, such as histone 5 and the family of hepatocyte nuclear factor-3 winged-helix-turn-helix transcription factors. Taken together, the structural and functional data suggest that recognition of Z-DNA by Zalpha involves residues in both the alpha3 helix and the C-terminal beta-sheet.

Schade, M; Turner, C J; Lowenhaupt, K; Rich, A; Herbert, A

1999-01-01

164

Family Togetherness  

Microsoft Academic Search

Members of Florence Kaslow's family of procreation share their insights into the myriad ways in which her professional contributions in family psychology and international psychology have had an impact on their family life. Particular attention is paid to the family life of psychotherapists, healthy family functioning, healthy long-term marriages, sex therapy, military psychology, family business consulting and the use of

Nadine J. Kaslow; Solis Kaslow; Howard I. Kaslow

2004-01-01

165

Characterization of the Betaherpesviral pUL69 Protein Family Reveals Binding of the Cellular mRNA Export Factor UAP56 as a Prerequisite for Stimulation of Nuclear mRNA Export and for Efficient Viral Replication ?  

PubMed Central

UL69 of human cytomegalovirus (HCMV) encodes a pleiotropic transactivator protein and has a counterpart in every member of the Herpesviridae family thus far sequenced. However, little is known about the conservation of the functions of the nuclear phosphoprotein pUL69 in the homologous proteins of other betaherpesviruses. Therefore, eukaryotic expression vectors were constructed for pC69 of chimpanzee cytomegalovirus, pRh69 of rhesus cytomegalovirus, pM69 of murine cytomegalovirus, pU42 of human herpesvirus 6, and pU42 of elephant endotheliotropic herpesvirus. Indirect immunofluorescence experiments showed that all pUL69 homologs expressed by these vectors were localized to the cell nucleus. Coimmunoprecipitation experiments identified homodimerization as a conserved feature of all homologs, whereas heterodimerization with pUL69 was restricted to its closer relatives. Further analyses demonstrated that pC69 and pRh69 were the only two homologs that functioned, like pUL69, as viral-mRNA export factors. As we had reported recently that nucleocytoplasmic shuttling and interaction with the cellular DExD/H-box helicases UAP56 and URH49 were prerequisites for the nuclear-mRNA export activity of pUL69, the homologs were characterized with regard to these properties. Heterokaryon assays demonstrated nucleocytoplasmic shuttling for all homologs, and coimmunoprecipitation and mRNA export assays revealed that the interaction of UAP56 and/or URH49 with pC69 or pRh69 was required for mRNA export activity. Moreover, characterization of HCMV recombinants harboring mutations within the N-terminal sequence of pUL69 revealed a strong replication defect of viruses expressing pUL69 variants that were deficient in UAP56 binding. In summary, homodimerization and nucleocytoplasmic shuttling activity were identified as conserved features of betaherpesviral pUL69 homologs. UAP56 binding was shown to represent a unique characteristic of members of the genus Cytomegalovirus that is required for efficient replication of HCMV.

Zielke, Barbara; Thomas, Marco; Giede-Jeppe, Antje; Muller, Regina; Stamminger, Thomas

2011-01-01

166

Indicators of Familial Alcoholism in Children's Kinetic Family Drawings.  

ERIC Educational Resources Information Center

Attempts to delineate indicators in children's depictions of family that suggest the presence of parental alcoholism. Kinetic Family Drawings from two groups of children were collected. Statistical analysis revealed two of six items of the evaluation - depiction of isolation of self and isolation of other family members - were significantly higher…

Holt, Elizabeth S.; Kaiser, Donna H.

2001-01-01

167

Families & Friendships  

MedlinePLUS

... Families & Friendships Military Sexual Trauma Depression mild Traumatic Brain Injury Life Stress Health & Wellness Anger Stigma Suicide Prevention ... Post-Traumatic Stress Sleep Alcohol & Drugs mild Traumatic Brain Injury Resilience Families with Kids Depression Families & Friendships Tobacco ...

168

Family Disruptions  

MedlinePLUS

... PedFACTs) Teaching Package First Aid for Families (PedFACTs) Pediatric First Aid for Caregivers and Teachers (PedFACTs) Participant Manual Allergies and Asthma Family Life Health Management - Medical Home Family Dynamics ...

169

Foster Families  

MedlinePLUS

... foster family? Let's find out. What Are Foster Families? The word "foster" means to help someone (or ... home. Continue Why Do Kids Live With Foster Families? Most often, a kid goes into a foster ...

170

Family History  

MedlinePLUS

... Aneurysm Complications Post Treatment and Outcome GTranslate Understanding : Family History Familial intracranial aneurysms are generally defined as the presence of two or more family members among first- and second-degree relatives with ...

171

Family Functioning in Neglectful Families.  

ERIC Educational Resources Information Center

Comparison of family functioning in 103 neglectful and 102 nonneglectful low-income families found that neglectful mothers reported their families as having more family conflict and less expression of feelings, but not less cohesiveness. Observational measures indicated neglectful families were less organized, more chaotic, and less verbally…

Gaudin, James M., Jr.; And Others

1996-01-01

172

FAMILIAL SUICIDE  

PubMed Central

Seven completed suicides in a family of lower socioeconomic status and suburban domicile in Pondicherry are reported. The presence of bipolar affective disorder in the family members and the absence of exogenous factors are illustrated by utilising both family history method and family study method. The details collected formed the basis for the terminology ‘familial suicide’. The management of the index case, one of the only three surviving male members of the family, who presented with suicidal ruminations and depressive features, is described.

Unni, K.E. Sadanaandan

1996-01-01

173

Georgia Revealed  

NSDL National Science Digital Library

OneWorld Journeys.com and Washingtonpost.com present Georgia Revealed: Searching for the Soul of the Caucasus. The site showcases a Georgia expedition that occurred April 16-29, the first of three explorations OneWorldJourneys.com have planned this year. Wilderness and nature photographers, journalists, and technicians collaborate here to bring users on their journey through the Caucasus Mountains Region of the Country of Georgia. Georgia Revealed not only features daily journal entries (text, streaming video and audio, and photographs) of the expedition, but also has sections providing background on history, travel, culture, and more. Altogether, this is a very well organized, educational site. We look forward to the next expedition to the Sonoran Desert.

174

Family Literacy  

ERIC Educational Resources Information Center

Research indicates that family literacy programs can provide opportunities for educational success for parents and children. The benefits reaped by the children in family literacy workshops are presented.

Holloway, John H.

2004-01-01

175

Hereditary nonpolyposis colon cancer: Analysis of linkage to 2p 15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families  

SciTech Connect

Hereditary nonpolyposis colon cancer (HNPCC) is an autosomal dominant trait responsible for approximately 6% of colorectal cancers. Linkage of the HNPCC trait to the D2S123 locus on 2p 15-16 has previously been reported in two families. This HNPCC locus is now designated [open quotes]COCA1[close quotes]. The authors have tested seven Canadian HNPCC families, who have a variety of clinical presentations, for linkage to a panel of microsatellite polymorphisms in the vicinity of D2S123. One family was clearly linked to the COCA1 locus (LOD = 4.21), and a second family is likely to be linked (LOD = 0.92). In three families linkage was excluded. In the remaining two families the data were inconclusive. In the linked family, individuals with cancer of the endometrium or ureter share a common haplotype with 12 family members with colorectal cancer. This supports the suspected association between these extracolonic neoplasms and the HNPCC syndrome. In addition, five of the six individuals with adenomatous polyps (but no colorectal cancer) have the same haplotype as the affected individuals, while the sixth carries a recombination. One individual with colorectal cancer carries a recombination that places the COCA1 locus telomeric to D2S123. This study localizes the COCA1 gene to an 8-cM region that is consistent with the location of the hMSH2 gene. The authors also confirm that families presently classified as HNPCC are genetically heterogeneous. 36 refs., 4 figs., 2 tabs.

Green, R.C.; Young, T.L. (Memorial Univ. of Newfoundland, St. John's (Canada)); Narod, S.A.; Tonin, P.; Ginsburg, O.; Miller, S. (Montreal General Hospital, Montreal (Canada) Royal Victoria Hospital, Montreal (Canada)); Morasse, J. (Hopital St-Francois d'Assise, Quebec City (Canada)); Cox, J.; Fitzgerald, G.W.N. (Grenfell Regional Health Services, St. Anthony, Newfoundland (Canada)); Jothy, S. (Royal Victoria Hospital, Montreal (Canada)) (and others)

1994-06-01

176

Georgians Revealed  

NSDL National Science Digital Library

What was life like during the Georgian era in Britain? During the period between 1714 and 1830, cities and towns were transformed, conspicuous consumption became the pastime of the emerging middle classes, and gardening and shopping for leisure became commonplace. This digital companion to the British Library's "Georgians Revealed" exhibit brings together some of the key books and newspapers from the period, along with details about guided tours through the physical exhibitions, a Georgian London walking tour, and more. For those unable to view the exhibit in person, this companion site provides brief but detailed narratives on interesting facets of the exhibit, including dancing with the Georgians and celebrity culture. The site is rounded out by an excellent timeline of key events from the time of George I (1714-1727) to George IV (1820-1830) accompanied by vivid illustrations and portraiture.

177

Differences in Family Cohesion, Adaptability, and Environment among Latino Families in Dissimilar Stages of Acculturation.  

ERIC Educational Resources Information Center

Examines the differences among Latino families who are in the low, bicultural, and high acculturation stages on measures of family cohesion, adaptability, and environment. Results revealed significant differences among the groups on family cohesion, adaptability, and some indices of family environment. Implications for family counselors are…

Miranda, Alexis O.; Estrada, Diane; Firpo-Jimenez, Miriam

2000-01-01

178

Family Governance with Family Councils  

Microsoft Academic Search

From the third generation onwards, family firms could get into business threatening situations. This might depend on the growing number of owners, the increasing distance of family members from the firm, and the heterogeneity of their interests. Thus, agency prob- lems and negative conflicts might occur. This calls for the appropriate choice of family gov- ernance mechanisms. Family councils might

Klaus Brockhoff; Alexander Koeberle-Schmid

179

Family Violence and Family Physicians  

PubMed Central

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.

Herbert, Carol P.

1991-01-01

180

The Revealer  

NSDL National Science Digital Library

For those interested in insightful and critical analysis of issues regarding religion and its portrayal in the media, it can be difficult to sift and winnow through the myriad of material offered on the web. Jointly sponsored by the New York University Department of Journalism and New York UniversityâÂÂs Center for Religion and Media, The Revealer is a well-thought out review of just such matters, and one that will be of great interest to persons with a penchant for the subject. The review is divided into three playful headings: Today, Timely, and Timeless. As might be expected, the Today section culls media coverage from that particular day. The Timely section offers links to media coverage of particularly germane issues and events, while the Timeless area offers some exclusive commentaries on photography and the occult and the relationship between science and religion. Finally, visitors can zero in on the religion of their choice by looking through the material as organized by faith, such as Hinduism, Paganism, and Christianity.

2005-01-01

181

Revealing Rembrandt  

PubMed Central

The power and significance of artwork in shaping human cognition is self-evident. The starting point for our empirical investigations is the view that the task of neuroscience is to integrate itself with other forms of knowledge, rather than to seek to supplant them. In our recent work, we examined a particular aspect of the appreciation of artwork using present-day functional magnetic resonance imaging (fMRI). Our results emphasized the continuity between viewing artwork and other human cognitive activities. We also showed that appreciation of a particular aspect of artwork, namely authenticity, depends upon the co-ordinated activity between the brain regions involved in multiple decision making and those responsible for processing visual information. The findings about brain function probably have no specific consequences for understanding how people respond to the art of Rembrandt in comparison with their response to other artworks. However, the use of images of Rembrandt's portraits, his most intimate and personal works, clearly had a significant impact upon our viewers, even though they have been spatially confined to the interior of an MRI scanner at the time of viewing. Neuroscientific studies of humans viewing artwork have the capacity to reveal the diversity of human cognitive responses that may be induced by external advice or context as people view artwork in a variety of frameworks and settings.

Parker, Andrew J.

2014-01-01

182

Acetone Formation in the Vibrio Family: a New Pathway for Bacterial Leucine Catabolism  

PubMed Central

There is current interest in biological sources of acetone, a volatile organic compound that impacts atmospheric chemistry. Here, we determined that leucine-dependent acetone formation is widespread in the Vibrionaceae. Sixteen Vibrio isolates, two Listonella species, and two Photobacterium angustum isolates produced acetone in the presence of l-leucine. Shewanella isolates produced much less acetone. Growth of Vibrio splendidus and P. angustum in a fermentor with controlled aeration revealed that acetone was produced after a lag in late logarithmic or stationary phase of growth, depending on the medium, and was not derived from acetoacetate by nonenzymatic decarboxylation in the medium. l-Leucine, but not d-leucine, was converted to acetone with a stoichiometry of approximately 0.61 mol of acetone per mol of l-leucine. Testing various potential leucine catabolites as precursors of acetone showed that only ?-ketoisocaproate was efficiently converted by whole cells to acetone. Acetone production was blocked by a nitrogen atmosphere but not by electron transport inhibitors, suggesting that an oxygen-dependent reaction is required for leucine catabolism. Metabolic labeling with deuterated (isopropyl-d7)-l-leucine revealed that the isopropyl carbons give rise to acetone with full retention of deuterium in each methyl group. These results suggest the operation of a new catabolic pathway for leucine in vibrios that is distinct from the 3-hydroxy-3-methylglutaryl-coenzyme A pathway seen in pseudomonads.

Nemecek-Marshall, Michele; Wojciechowski, Cheryl; Wagner, William P.; Fall, Ray

1999-01-01

183

Revealing Things  

NSDL National Science Digital Library

Revealing Things is the Smithsonian Institution's first specifically web based exhibit; both the content and design of the site are fascinating. This work in progress is a prototype of a future, more fully-developed exhibit. It concentrates on "common, everyday objects to tell stories about people, their cultures, and the meanings they associate with their possessions." Items discussed include a 1937 chemistry set, a Vietnam memorial offering, a duckpin bowling ball, an early TV, and a celery vase, among many others. Organized according to theme, era, and object, the exhibit is presented in a new pop-up browser window. Within that window, navigation takes place via "maplets," a connected series of moving colored labels representing the three ways that the exhibit is organized. Users can move slider bars to effect the placement of the labels, and search on terms to create their own thematic or object-based exhibit. When the cursor is placed over an object label, scrolling text introduces it. Alternatively, the site can be navigated via a series of icons that run down the middle of the exhibition page. When an icon is clicked, the series of icons may rearrange. Each exhibit contains a photo of the object, along with written commentary on it. In addition, sound is sometimes available to play period music, or render out loud the exhibition text. The most fully-developed object at this time is "Patched Bellbottoms." Users are advised to read the help files on both the main page and the exhibit page for navigation tips. The exhibit is a fascinating precursor of what could be a new way to interactively view museum exhibits, allowing the user to cast off the restraints of a linear orientation. Note that the exhibit is extremely browser and bandwidth intensive.

1998-01-01

184

The amino acid\\/auxin:proton symport permease family 1 The accompanying review paper ‘Phylogenetic characterization of novel transport protein families revealed by genome analysis’ by M.H. Saier Jr. et al. will be published in Biochim. Biophys. Acta, Vol. 1422\\/1, February 1999 issue. 1  

Microsoft Academic Search

Amino acids and their derivatives are transported into and out of cells by a variety of permease types which comprise several distinct protein families. We here present a systematic analysis of a group of homologous transport proteins which together comprise the eukaryotic-specific amino acid\\/auxin permease (AAAP) family (TC #2.18). In characterizing this family, we have (1) identified all sequenced members

Gregory B. Young; Donald L. Jack; Douglas W. Smith; Milton H. Saier

1999-01-01

185

Family Member Involvement in Hastened Death  

ERIC Educational Resources Information Center

When patients pursue a hastened death, how is the labor of family caregiving affected? The authors examined this question in a qualitative study of 35 families. Four cases reveal the main themes: "taking care" included mutual protection between patients and family members; "midwifing the death" without professional support left families unprepared…

Starks, Helene; Back, Anthony L.; Pearlman, Robert A.; Koenig, Barbara A.; Hsu, Clarissa; Gordon, Judith R.; Bharucha, Ashok J.

2007-01-01

186

Family Reunification.  

ERIC Educational Resources Information Center

Full Circle Programs is an organization providing family preservation and reunification services. Full Circle responds to families uniquely, rather than according to predetermined models. Medical testing, counseling, and practical assistance are provided. (BC)

Brown, Carolyn L.; Little, Susan

1990-01-01

187

Family Policy.  

National Technical Information Service (NTIS)

The Directive supersedes Secretary of Defense Memorandum, 'Department of Defense Family Policy,' establishes policies, assigns responsibilities, and prescribes procedures on family policy for Department of Defense (DoD) military personnel in Active, Natio...

W. York

1988-01-01

188

Family Medicine.  

National Technical Information Service (NTIS)

The role, functions, and potential of family medicine are examined in a discussion drawing on observations of the University of Rochester Family Medicine Program at Highland Hospital, Rochester, New York. The discussion opens with a review of the factors ...

P. S. Warren

1970-01-01

189

Family Support.  

ERIC Educational Resources Information Center

This "Feature Issue" of the quarterly journal "Impact" presents 19 brief articles on family support systems in the United States for persons with developmental disabilities and their families. Emphasis is on provisions of Public Law 99-457. Articles include: "Family Support in the United States: Setting a Course for the 1990s" (James Knoll);…

Wieck, Colleen, Ed.; McBride, Marijo, Ed.

1990-01-01

190

Family therapy.  

PubMed

Another major force not letting us succeed in the treatment of diabetes remains right inside the patients home, their family members. Hence, it is important to know the perception of the close family members about this simple and strong tool in diabetes, 'insulin'. The drug is nearing its century, it has not fully being accepted gracefully even in todays electronic savvy society. So, we need to strongly discover the reason for its non-acceptance, while trials are out inventing new drugs. One vital thing that can change this attitude is increasing the understanding of this drug, insulin in depth to close people around the patient, the 'family'. Underestimating family's perception about disease and treatment for diabetes is detrimental to both diseased and the doctor. This consists of a biopsychosocial model; biological, psychological and social factors. Family forms the most important part of it. The strategies in family therapy include psychodynamic, structural, strategic, and cognitive-behavioral component. Diabetes has and will continue to rise, so will be the treatment options. From the clinicians side its to fix fasting first but from patients its fix family first. Family therapy demonstrates the importance of insulin initiation and maintenance in insulin naive patients, and continuation for others. The specific needs of such patients and their impact on family life are met with family therapy. Who needs family therapy? Benefits of family therapy and a case based approach is covered. PMID:24251191

Altamash, Shaikh

2013-10-01

191

[Family Support.  

ERIC Educational Resources Information Center

The newsletter offers perspectives on the provision of family support services for families with disabled members. An introductory article by Madeleine Will, Assistant Secretary for Special Education and Rehabilitative Services, stresses the impressive coping skills exhibited by many such families and their relationship to service professionals.…

Focal Point, 1988

1988-01-01

192

Family therapy  

PubMed Central

Another major force not letting us succeed in the treatment of diabetes remains right inside the patients home, their family members. Hence, it is important to know the perception of the close family members about this simple and strong tool in diabetes, ‘insulin’. The drug is nearing its century, it has not fully being accepted gracefully even in todays electronic savvy society. So, we need to strongly discover the reason for its non-acceptance, while trials are out inventing new drugs. One vital thing that can change this attitude is increasing the understanding of this drug, insulin in depth to close people around the patient, the ‘family’. Underestimating family's perception about disease and treatment for diabetes is detrimental to both diseased and the doctor. This consists of a biopsychosocial model; biological, psychological and social factors. Family forms the most important part of it. The strategies in family therapy include psychodynamic, structural, strategic, and cognitive-behavioral component. Diabetes has and will continue to rise, so will be the treatment options. From the clinicians side its to fix fasting first but from patients its fix family first. Family therapy demonstrates the importance of insulin initiation and maintenance in insulin naive patients, and continuation for others. The specific needs of such patients and their impact on family life are met with family therapy. Who needs family therapy? Benefits of family therapy and a case based approach is covered.

Altamash, Shaikh

2013-01-01

193

Familial hemophagocytic lymphohistiocytosis.  

PubMed

A 45-day-old infant presented with hepatosplenomegaly and fever since 15 days. Hemogram revealed bicytopenia and bone marrow aspirate showed hemophagocytosis. With the history of death of two siblings, the baby was diagnosed with hemophagocytic lymphohistiocytosis (HLH), likely to be of familial origin. PMID:23100980

Raka, S; Nayar, P; Godbole, R; Manchanda, R

2009-06-01

194

Familial hypercholesterolemia.  

PubMed

Familial homozygous hypercholesterolemia is a rare autosomal disorder characterized by high levels of cholesterol, extensive tendon xanthomatosis and premature development of atherosclerotic disease. Early coronary artery disease with myocardial infarctions and sudden deaths are common. We reported a family of familial hypercholesterolemia from the Kashmir valley of the Indian subcontinent. The appearance and the severity of the cutaneous xanthomas was found to be age related suggesting a role for the duration of hypercholesterolemia in the development of xanthomatosis. PMID:17457492

Koul, Parvaiz A; Jan, Rafi A; Wahid, Abdul B; Bhat, Tariq A; Mudassir, Syed M

2007-04-01

195

Global responses of Aliivibrio salmonicida to hydrogen peroxide as revealed by microarray analysis.  

PubMed

Aliivibrio salmonicida causes "cold-water vibriosis" (or "Hitra disease") in fish, including marine-reared Atlantic salmon. During development of the disease the bacterium will encounter macrophages with antibacterial activities such as production of damaging reactive oxygen species (ROS). To defend itself the bacterium will presumably start producing detoxifying enzymes, reducing agents, and proteins involved in DNA and protein repair systems. Even though responses to oxidative stress are well studied for a few model bacteria, little work has been done in general to explain how important groups of pathogens, like members of the Vibrionaceae family, can survive at high levels of ROS. We have used bioinformatic tools and microarray to study how A. salmonicida responds to hydrogen peroxide (H(2)O(2)). First, we used the recently published genome sequence to predict potential binding sites for OxyR (H(2)O(2) response regulator). The computer-based search identified OxyR sites associated with 20 single genes and 8 operons, and these predictions were compared to experimental data from Northern blot analysis and microarray analysis. In general, OxyR binding site predictions and experimental results are in agreement. Up- and down regulated genes are distributed among all functional gene categories, but a striking number of ?2 fold up regulated genes encode proteins involved in detoxification and DNA repair, are part of reduction systems, or are involved in carbon metabolism and regeneration of NADPH. Our predictions and -omics data corroborates well with findings from other model bacteria, but also suggest species-specific gene regulation. PMID:21798213

Pedersen, Hege L; Hjerde, Erik; Paulsen, Steinar M; Hansen, Hilde; Olsen, Lotte; Thode, Sunniva K; Santos, Marcos T Dos; Paulssen, Ruth H; Willassen, Nils-Peder; Haugen, Peik

2010-01-01

196

Roles within the Family  

MedlinePLUS

... Dynamics > Roles Within the Family Family Life Listen Roles Within the Family Article Body Families are not democracies. Each family ... household duties. It is useful to consider what roles each family member takes within the family, and whether everyone ...

197

Substituted Cysteine Accessibility Method Analysis of Human Concentrative Nucleoside Transporter hCNT3 Reveals a Novel Discontinuous Region of Functional Importance within the CNT Family Motif (G/A)XKX3NEFVA(Y/M/F)*  

PubMed Central

The human SLC28 family of integral membrane CNT (concentrative nucleoside transporter) proteins has three members, hCNT1, hCNT2, and hCNT3. Na+-coupled hCNT1 and hCNT2 transport pyrimidine and purine nucleosides, respectively, whereas hCNT3 mediates transport of both pyrimidine and purine nucleosides utilizing Na+ and/or H+ electrochemical gradients. These and other eukaryote CNTs are currently defined by a putative 13-transmembrane helix (TM) topology model with an intracellular N terminus and a glycosylated extracellular C terminus. Recent mutagenesis studies, however, have provided evidence supporting an alternative 15-TM membrane architecture. In the absence of CNT crystal structures, valuable information can be gained about residue localization and function using substituted cysteine accessibility method analysis with thiol-reactive reagents, such as p-chloromercuribenzene sulfonate. Using heterologous expression in Xenopus oocytes and the cysteineless hCNT3 protein hCNT3C?, substituted cysteine accessibility method analysis with p-chloromercuribenzene sulfonate was performed on the TM 11–13 region, including bridging extramembranous loops. The results identified residues of functional importance and, consistent with a new revised 15-TM CNT membrane architecture, suggest a novel membrane-associated topology for a region of the protein (TM 11A) that includes the highly conserved CNT family motif (G/A)XKX3NEFVA(Y/M/F).

Slugoski, Melissa D.; Ng, Amy M. L.; Yao, Sylvia Y. M.; Lin, Colin C.; Mulinta, Ras; Cass, Carol E.; Baldwin, Stephen A.; Young, James D.

2009-01-01

198

Pattern Families  

NSDL National Science Digital Library

In this math activity, learners sort patterns into similar "families" or groups that have the same pattern, but different symbols. Then learners create their own patterns that fit into each family using stamps, stickers, and buttons. This activity guide contains a material list, sample questions to ask, literary connections, extensions, and alignment to local and national standards.

Houston, Children'S M.

2014-04-07

199

Family violence.  

PubMed

Family violence occurs in many forms; the most prominent are domestic violence, child abuse, and elder abuse. Family violence affects many persons at some point in their life and constitutes the majority of violent acts in our society. Although there has been considerable study of the patterns, risk factors, and interventions for each form of family violence, great controversy still exists within each area. There is growing recognition of an overlap in the patterns, causes, and effective interventions across types of family violence. There is also an increasing awareness of the value of greater integration of theory and research across areas into a family violence approach through an ecological perspective. This review focuses on current knowledge related to these problems and suggests integrative steps to advance knowledge. PMID:16318607

Tolan, Patrick; Gorman-Smith, Deborah; Henry, David

2006-01-01

200

Expression QTL mapping in regulatory and helper T cells from the BXD family of strains reveals novel cell-specific genes, gene-gene interactions and candidate genes for auto-immune disease  

PubMed Central

Background Regulatory T cells (Tregs) play an essential role in the control of the immune response. Treg cells represent important targets for therapeutic interventions of the immune system. Therefore, it will be very important to understand in more detail which genes are specifically activated in Treg cells versus T helper (Th) cells, and which gene regulatory circuits may be involved in specifying and maintaining Treg cell homeostasis. Results We isolated Treg and Th cells from a genetically diverse family of 31 BXD type recombinant inbred strains and the fully inbred parental strains of this family--C57BL/6J and DBA/2J. Subsequently genome-wide gene expression studies were performed from the isolated Treg and Th cells. A comparative analysis of the transcriptomes of these cell populations allowed us to identify many novel differentially expressed genes. Analysis of cis- and trans-expression Quantitative Trait Loci (eQTLs) highlighted common and unique regulatory mechanisms that are active in the two cell types. Trans-eQTL regions were found for the Treg functional genes Nrp1, Stat3 and Ikzf4. Analyses of the respective QTL intervals suggested several candidate genes that may be involved in regulating these genes in Treg cells. Similarly, possible candidate genes were found which may regulate the expression of F2rl1, Ctla4, Klrb1f. In addition, we identified a focused group of candidate genes that may be important for the maintenance of self-tolerance and the prevention of allergy. Conclusions Variation of expression across the strains allowed us to find many novel gene-interaction networks in both T cell subsets. In addition, these two data sets enabled us to identify many differentially expressed genes and to nominate candidate genes that may have important functions for the maintenance of self-tolerance and the prevention of allergy.

2011-01-01

201

Family Health and Family Planning.  

ERIC Educational Resources Information Center

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…

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

202

Family Meals  

MedlinePLUS

... You're setting the mood and modeling good manners and patience. Family meals are a good time ... potatoes? What's the most delicious food on the table? If you opened a restaurant, what kind would ...

203

Family Issues  

MedlinePLUS

... Self Advocacy Transitions Treatment Options Biomedical Treatments Nonmedical Interventions Related Approaches Evaluating Options Family Issues Stress Siblings Community Inclusion Autism and Faith Future Planning Government Benefits and Special Needs Trusts Letter of ...

204

Fact Families  

NSDL National Science Digital Library

In this lesson, the relationship of addition to subtraction is explored with books and with connecting cubes. Students search for related addition and subtraction facts for a given number using a virtual or actual calculator to find differences. They also investigate fact families when one addend is 0 as well as when the addends are the same. Students will: find missing addends, review the additive identity, generate fact families given two addends or given one addend and the sum.

Illuminations

2012-03-31

205

Female families' experiences of caring for persons with schizophrenia.  

PubMed

The caring experiences of female families of persons with schizophrenia were described through exploring the families' descriptions of their experiences. Focus group interviews were conducted with 11 family caregivers. According to content analysis, the experiences revealed five major themes: early family experiences, family perceptions of illness and relatives with schizophrenia, family burden and suffering, family attitudes toward relatives with schizophrenia, and family thoughts about society and mental health resources. Also, the families had strength to overcome considerable adversity. It is needed for professionals to listen to family caregivers' narratives carefully and improve the support by focusing on accepting their experiences and histories with persons with schizophrenia. PMID:23540516

Mizuno, Eriko; Takataya, Kumiko; Kamizawa, Naotoshi; Sakai, Ikue; Yamazaki, Yoko

2013-04-01

206

Normal Functioning Family  

MedlinePLUS

... Children > Family Life > Family Dynamics > Normal Functioning Family Family Life Listen Normal Functioning Family Article Body Is there any way to tell if my family is functioning normally? Many parents ask themselves this ...

207

A family-based study of Indian subjects from Kolkata reveals allelic association of the serotonin transporter intron-2 (STin2) polymorphism and attention-deficit-hyperactivity disorder (ADHD).  

PubMed

Serotonin transporter (SLC6A4) polymorphisms are variously implicated in mediating susceptibility to attention-deficit-hyperactivity disorder (ADHD), a highly heritable and heterogeneous disorder with onset in childhood. Since there has been no survey in this regard from India, a sample of 56 ADHD cases and 174 healthy individuals from Kolkata were genotyped for the SLC6A4 promoter (5-HTTLPR) and intron-2 (STin2) polymorphisms. We report that the observed distribution of allele frequencies is consonant with that expected as per Hardy-Weinberg equilibrium proportions. Pair-wise combination of alleles comprising the 5-HTTLPR and STin2 polymorphic systems exhibit significant (chi(2) = 14.74, df = 1; P = 0.0001) linkage disequilibrium of low magnitude (D' = 0.269). The estimates of haplotype-based haplotype relative risk (HHRR) (chi(2) = 4.92, P = 0.027; RR = 1.47; 95% CI = 1.01-2.13) and transmission disequilibrium test (TDT) statistics (chi(2) = 7.00, P = 0.008; OR = 3.00; 95% CI = 1.53-5.90) using a family-based study design, indicate significant preferential transmission of the STin2.12 (A12) allele to ADHD cases. Maternal inheritance of the A12 allele is significant in terms of the HHRR (chi(2) = 6.53, P = 0.011; RR = 2.00; 95% CI = 1.08-3.72) and TDT (chi(2) = 8.07, P = 0.005; OR = 6.50; 95% CI = 1.76-23.98) suggesting a novel role for epigenetic mechanisms in the etiology of ADHD. Similar analyses yielded no evidence of association between the 5-HTTLPR polymorphism and ADHD. Studies including additional polymorphic markers, ADHD subjects and other ethnic groups are warranted to further substantiate the present findings. PMID:16583436

Banerjee, Emili; Sinha, Swagata; Chatterjee, Anindita; Gangopadhyay, Prasanta Kumar; Singh, Manoranjan; Nandagopal, Krishnadas

2006-06-01

208

Functional characterization of two new members of the caffeoyl CoA O-methyltransferase-like gene family from Vanilla planifolia reveals a new class of plastid-localized O-methyltransferases.  

PubMed

Caffeoyl CoA O-methyltransferases (OMTs) have been characterized from numerous plant species and have been demonstrated to be involved in lignin biosynthesis. Higher plant species are known to have additional caffeoyl CoA OMT-like genes, which have not been well characterized. Here, we identified two new caffeoyl CoA OMT-like genes by screening a cDNA library from specialized hair cells of pods of the orchid Vanilla planifolia. Characterization of the corresponding two enzymes, designated Vp-OMT4 and Vp-OMT5, revealed that in vitro both enzymes preferred as a substrate the flavone tricetin, yet their sequences and phylogenetic relationships to other enzymes are distinct from each other. Quantitative analysis of gene expression indicated a dramatic tissue-specific expression pattern for Vp-OMT4, which was highly expressed in the hair cells of the developing pod, the likely location of vanillin biosynthesis. Although Vp-OMT4 had a lower activity with the proposed vanillin precursor, 3,4-dihydroxybenzaldehyde, than with tricetin, the tissue specificity of expression suggests it may be a candidate for an enzyme involved in vanillin biosynthesis. In contrast, the Vp-OMT5 gene was mainly expressed in leaf tissue and only marginally expressed in pod hair cells. Phylogenetic analysis suggests Vp-OMT5 evolved from a cyanobacterial enzyme and it clustered within a clade in which the sequences from eukaryotic species had predicted chloroplast transit peptides. Transient expression of a GFP-fusion in tobacco demonstrated that Vp-OMT5 was localized in the plastids. This is the first flavonoid OMT demonstrated to be targeted to the plastids. PMID:21629984

Widiez, Thomas; Hartman, Thomas G; Dudai, Nativ; Yan, Qing; Lawton, Michael; Havkin-Frenkel, Daphna; Belanger, Faith C

2011-08-01

209

Multigene families in African swine fever virus: family 505.  

PubMed Central

Sequencing of restriction fragment EcoRI A-SalI C of African swine fever virus has revealed the existence of a multigene family, designated family 505 because of the average number of amino acids in the proteins, composed of seven homologous and tandemly arranged genes. All the genes of family 505 are expressed during infection. Primer extension analysis showed that transcription is initiated a short distance (3 to 62 nucleotides) from the start codon of the corresponding open reading frame. The proteins of family 505 showed similarity to those of family 360 from African swine fever virus. In particular, a striking conservation of three regions at the amino terminus of the polypeptides was observed. Images

Rodriguez, J M; Yanez, R J; Pan, R; Rodriguez, J F; Salas, M L; Vinuela, E

1994-01-01

210

Family Hypnotherapy.  

ERIC Educational Resources Information Center

A therapeutic model to help families activate experiential and right hemispheric functioning through hypnosis is presented in detail, together with a clinical illustration. Different situations in which this model is effective are mentioned and one such set of circumstances is described. (Author)

Araoz, Daniel L.; Negley-Parker, Esther

1985-01-01

211

Serving Families.  

ERIC Educational Resources Information Center

Parent Services Project (PSP), the first comprehensive program of resources and mental health activities for parents offered at child care centers in the San Francisco Bay Area (California), has expanded to centers in six states, serving over 19,000 families. This report describes the program's history, aims, and achievements, along with specific…

Link, Geoffrey; Beggs, Marjorie; Seiderman, Ethel

212

Family Violence.  

ERIC Educational Resources Information Center

This quarterly publication, issued by the National Institute on Alcohol Abuse and Alcoholism (NIAAA), contains articles dealing with family violence and alcohol abuse, children of alcoholic parents, training programs for counselors, and confidentiality of client records. The three articles on alcohol abuse suggest that: (1) there is a clear…

Sorgen, Carol, Ed.

1979-01-01

213

A FAMILY WITH LEUKONYCHIA TOTALIS  

PubMed Central

A family presented to our dermatology clinic with a complaint of white nails. Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of Bart Pumphrey syndrome).Three consecutive generations of this family were affected with variable presentations of Bart Pumphrey syndrome in male and female; and autosomal dominant pattern of inheritance.

Balighi, Kamran; Moeineddin, Fatemeh; Lajevardi, Vahideh; Ahmadreza, Rajaee

2010-01-01

214

Gender and the Work-Family Interface: Exploring Differences across the Family Life Course  

ERIC Educational Resources Information Center

This study examines gender differences in the work-family interface across six family life stages using a global sample of IBM employees in 79 countries (N = 41,813). Family life stage was constructed using the age of respondent and age of youngest child. Results revealed that having young children at home was the critical catalyst for gender…

Martinengo, Giuseppe; Jacob, Jenet I.; Hill, E. Jeffrey

2010-01-01

215

The Families of Lesbian and Gay Men: A New Frontier in Family Research.  

ERIC Educational Resources Information Center

A review of 8,000 articles in family research journals revealed that research on lesbian and gay families is limited and that studies that do exist have been problematized and their diversity has been overlooked. Challenges the neglect of this population in family studies, and discusses theoretical implications. (JPS)

Allen, Katherine R.; Demo, David H.

1995-01-01

216

Perceptions of Personal and Familial Adjustment by Children from Intact, Single-Parent, and Reconstituted Families.  

ERIC Educational Resources Information Center

Investigated children's (N=566) personal and familial adjustment as a function of familial configuration and gender. The results revealed less positive adjustment among children from divorced families. Males appeared to be favorably affected within the single-parent configuration, while females were more favorably adjusted within the reconstituted…

Nunn, Gerald D.; And Others

1983-01-01

217

Familial paragangliomas  

PubMed Central

Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect. Genetic predisposition can occur within the familial tumour syndromes multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau (VHL) and neurofibromatosis type 1 (NF-1), or be due to mutations in genes specific to the development of paraganglioma only. Compared to sporadic forms, familial paragangliomas tend to present at a younger age and at multiple sites. Tumours should be diagnosed and resected as early as possible, as it has been shown that morbidity is related to tumour size. This article gives an overview of the current literature on the origin of the different forms of paragangliomas, DNA diagnosis, as well as biochemical and radiological screening guidelines.

2006-01-01

218

Family lifeline.  

PubMed

Bereavement care is a vital but under-funded part of palliative care services, and there is growing evidence that people who have lost a loved one are at increased risk of serious illness. The Hospice of St. Francis in Berkhamsted is providing innovative care for families of patients before and after death. 'Life-changing' initiatives include cookery classes and pony rides. PMID:22908761

Trueland, Jennifer

219

[Familial hypercholesterolemia].  

PubMed

Familial hypercholesterolemia is one of the most common hereditary metabolic disorders, untreated with grave cardiovascular consequences. A general practitioner will see at least one affected individual each month, but will rarely be aware of the diagnosis, though it is easily suspected: an LDL-cholesterol ??190?mg/dl, a family history of premature cardiovascular disease, or clinical signs as arcus lipoides, tendinous xanthomata, or a thickened Achilles' tendon must draw the attention to familial hypercholesterolemia. Because of the burden of high cholesterol levels from childhood on therapy should be initiated early enough, which has become greatly ameliorated since the introduction of statins. In conjunction with additional risk factors, notably low HDL-cholesterol or elevated lipoprotein(a) the cardiovascular sequelae can be dramatic and may call for more intense therapies. However, often the routine of successful cholesterol lowering covers the diagnosis nowadays, so that a heritable metabolic disorder is not suspected, which, however, prevents an effective prevention in relatives, particularly the children of the patient. PMID:23132157

Windler, E; Beil, F-U; Altenburg, C; Rinninger, F

2012-11-01

220

Family Influences on Racial Identity among African American Youth  

ERIC Educational Resources Information Center

The purpose of this study was to examine the influence of parental efficacy, family coping, and adaptive family functioning on the development of racial identity among African American youth. Fifty-two African American parent-child dyads were participants. Results of a hierarchical regression revealed family adaptability and family cognitive…

Townsend, Tiffany; Lanphier, Erin

2007-01-01

221

"Reading" Families: Deficit Discourse and Family Literacy.  

ERIC Educational Resources Information Center

Describes family literacy, examining how families are already read by teachers, researchers, policymakers, and the media and arguing that the rhetoric of family literacy has defined the family in somewhat pathological terms. The paper examines the continued pervasiveness of deficit discourses to describe families, noting why it prevails in the…

Whitehouse Marianne; Colvin, Carolyn

2001-01-01

222

Dual Career Families: A Family Therapy Perspective.  

ERIC Educational Resources Information Center

This literature review provides an overview of the impact of dual careers on family and family therapy. The dual career family currently represents the most common married unit. Because both work and family stress impact psychological well-being variables such as depression and self-esteem, family and work can not be understood as two separate and…

Hill, Nicole R.

223

The CIA's Family Jewels  

NSDL National Science Digital Library

The National Security Archive at George Washington University has been bringing important documents to the general public's attention for years, and they recently finally received a copy of the CIA's "family jewels" report from the 1970s. They had originally filed a request for the document in 1992, and on June 26th, 2007 CIA officers finally brought the document to their headquarters. James Schlesinger, director of the CIA at the time, started the actual "family jewels" operation in 1973. Noted journalist Seymour Hersh reported on the story of this illegal domestic operation in 1974, and his investigation also revealed that the CIA had been involved in wiretapping and various break-ins since the 1950s. The document can be viewed in its entirety here, and interested parties can also search the entire document by keywords.

224

The CIA's Family Jewels  

NSDL National Science Digital Library

The National Security Archive at George Washington University has been bringing important documents to the general public's attention for years, and they recently finally received a copy of the CIA's "family jewels" report from the 1970s. They had originally filed a request for the document in 1992, and on June 26th, 2007 CIA officers finally brought the document to their headquarters. James Schlesinger, director of the CIA at the time, started the actual "family jewels" operation in 1973. Noted journalist Seymour Hersh reported on the story of this illegal domestic operation in 1974, and his investigation also revealed that the CIA had been involved in wiretapping and various break-ins since the 1950s. The document can be viewed in its entirety here, and interested parties can also search the entire document by keywords.

2007-07-27

225

Work, Family and Community Support as Predictors of Work-Family Conflict: A Study of Low-Income Workers  

ERIC Educational Resources Information Center

This study examines relationships between support from work, family and community domains with time- and strain-based work-family conflict in a sample of low-income workers. Results reveal significant within-domain and cross-domain relationships between support from all three life domains with work--family conflict. With respect to family support,…

Griggs, Tracy Lambert; Casper, Wendy J.; Eby, Lillian T.

2013-01-01

226

Students: Consumers of Family and Consumer Sciences Education.  

ERIC Educational Resources Information Center

Survey responses from 1,508 secondary students revealed their perceptions of family-and-consumer-sciences education. Many did not think it should be required, but thought the content was interesting and would help them in family life. (SK)

Smith, Bettye P.; Hall, Helen C.; Jones, Karen H.; Cory, Jo Ann; Ethridge, Tracy L.

1998-01-01

227

Family Communication Patterns and the Development of Reticence.  

ERIC Educational Resources Information Center

Explores the relationship between family communication patterns and reticence. Reveals that reticent individuals reported a significantly lower level of conversation orientation within their families than members of a comparison group. (SG)

Kelly, Lynne; Keaten, James A.; Finch, Cynthia; Duarte, Ilze B.; Hoffman, Patrizia; Michels, Margaret M.

2002-01-01

228

Asteroid families  

NASA Astrophysics Data System (ADS)

Dynamical and physical investigations of asteroid families are reviewed. Particular attention is given to recent work carried out mainly by means of a combination of numerical integration and filtering techniques and aimed at assessing the accuracy of proper elements with respect to the linear theory as well as evaluating some aspects of the second-order fourth-degree analytical theory of Yuasa (1973). It is noted that recent numerical results show that the issue of proper elements has to be reconsidered, particularly concerning the effect of the proximity to the mean motion resonances.

Froeschle, Cl.; Froeschle, Ch.; Gonczi, R.; Farinella, P.; Carpino, M.

229

The olfactory receptor family album  

PubMed Central

Analysis of the human genome draft sequences has revealed a more complete portrait of the olfactory receptor gene repertoire in humans than was available previously. The new information provides a basis for deeper analysis of the functions of the receptors, and promises new insights into the evolutionary history of the family.

Crasto, Chiquito; Singer, Michael S; Shepherd, Gordon M

2001-01-01

230

Family and family therapy in the Netherlands.  

PubMed

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. PMID:22515464

Wagenaar, Karin; Baars, Jan

2012-04-01

231

Trematodes of the family Opisthorchiidae: a minireview  

PubMed Central

Examination of the original descriptions of genera placed within the family Opisthorchiidae has revealed that only 33 of the original 43 genera are valid members of this family. Further study of these descriptions should also reveal that many of the subfamilies are also invalid. With reference to the original descriptions of these genera, and subsequent literature, a brief survey of the family has been compiled. Information on the spectrum of definitive hosts that these helminths parasitize is provided, as well as information on the life cycles, geographic distribution, and socioeconomic impacts of the family. More in-depth information is given on those species that are of particular medical importance; namely, Clonorchis sinensis, Opisthorchis viverrini, and O. felineus. The final aims of this review are to provide information on the entire genera of the family Opisthorchiidae, which will aid understanding of the phylogenetic relationships not only within the family, but also within the Class Trematoda.

King, Sandie

2001-01-01

232

Positive Family Functioning.  

ERIC Educational Resources Information Center

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…

Sussman, Marvin B.

233

Reclaiming Family Privilege  

ERIC Educational Resources Information Center

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…

Seita, John

2012-01-01

234

Final Evaluation Report: Family to Family Program.  

ERIC Educational Resources Information Center

This evaluation report of the Family to Family Program assesses parental attitudes towards their Family to Family experience and the functioning of their emotionally impaired children. It reviews issues of goal achievement; the impact on the targeted problem; service population demographics; and sustainability. Related topics include…

Ramey, Luellen; Meyer, David P.

235

The Family Hero in Black Alcoholism Families.  

ERIC Educational Resources Information Center

Uses data from 20 case studies of Black adult female children of alcoholic parents to discuss Family Hero role often assumed by oldest or only female child in Black alcoholism families. Explains how female-dominated survival role of Family Hero in Black families is significantly more related to racial and cultural factors than numbers alone may…

Brisbane, Francis L.

1989-01-01

236

Richardson-Gaudin models: the hyperbolic family  

NASA Astrophysics Data System (ADS)

We show that the hyperbolic family of Richardson-Gaudin models could describe p-wave superfluids in two dimensional lattices. The analysis of the exact solution reveals an exotic phase diagram with a third order quantum phase transition. Moreover, we propose a separable integrable pairing Hamiltonian within the same family that could be useful to describe exactly superconductivity in heavy nuclei.

Dukelsky, Jorge; Rombouts, Stefan; Ortiz, Gerardo

2011-09-01

237

The Family Dynamics of Intellectual Development.  

ERIC Educational Resources Information Center

Birth order effects on intellectual performance show both positive and negative results. Considers the intellectual aspects of siblings' changing environments, explaining that birth order and family size effects depend crucially on the age at which children are tested. Within-family data conceal patterns of aggregate effects that are revealed by…

Zajonc, R. B.

2001-01-01

238

Codependency: a family addiction.  

PubMed

Codependency is a common and treatable family-system illness that develops in reaction to the stress of addiction or another "shameful secret" in a family member. This stressful environment induces emotional changes in each family member and creates a variety of pathologic family roles. For the family physician, brief therapy for the codependent family can be visibly effective when combined with follow-up and referral to resources such as Al-Anon family groups. PMID:3565221

Mulry, J T

1987-04-01

239

[Continued care for families of children with chronic diseases: perceptions of Family Health Program teams].  

PubMed

The objective of this study is to characterize how the Family Health Strategy teams in Brazil perceive their role to provide continued care to families of children with chronic diseases. This was a qualitative study that used symbolic interactionism as its theoretical framework, with content analysis for thematic categorical analysis. Focus groups with three Family Health Strategy teams were used for data collection, with a total of 32 study participants. The results were organized into three thematic categories: 1) singularities of families that live with children with chronic diseases; 2) team, family and Family Health Strategy; and 3) limitations of care . The teams' perception is that the design of the Family Health Strategy encourages access to the family experience, allowing the recognition of its specificities. Further, the data reveal team limitations regarding their capacity to provide care, and the need for investments in articulation with different social services, sectors, and equipment. PMID:24626363

Sousa, Etelvaldo Francisco Rego; Costa, Eliane Aparecida de Oliveira; Dupas, Giselle; Wernet, Monika

2013-12-01

240

Family development: a classic example.  

PubMed

On August 15, 1978, the integrated parasite control/family planning program was launched by the National Family Planning Board in the Tanjong Malim Estate in Kuala Lumpur (the estate is a rubber oil palm plantation) to enhance the health status of the estate workers and their families. Personal hygiene, good toilet habits, and washing fruits and vegetables before eating were emphasized. Pre- and post-surveys of worm infestation of the estate population revealed that treatment with drugs dramatically reduced the rate of intestinal helminthiasis infection among the population. To sustain the prevention or total eradication of the disease, an ongoing educational program was initiated and included the following features: 1) increasing knowledge of the community as to how intestinal helminthiasis is transmitted, and ways of limiting transmission; 2) providing safe and sanitary toilet facilities for young children, and; 3) periodic deworming of susceptible population every 3 months. The estate members are also encouraged to plant vegetables in their backyard. The National Family Planning Board also helped the estate members organize different functional groups, such as Mothers' Group. This multifaceted approach to family planning appears to have an encouraging future, particularly in family development. PMID:12261448

1979-01-01

241

Evaluations of family by youth: do they vary as a function of family structure, gender, and birth order?  

PubMed

In the present study, 334 youths evaluated their families by responding to the Personal Attribute Inventory for Children. An analysis of variance revealed no significant main effects due to respondents' birth order or gender, but did find a significant main effect due to family structure and a significant two-way interaction effect between respondents' family structure and gender. Specifically, males from divorced remarried families and females from divorced nonremarried families were found to evaluate their respective families significantly more negatively than did their counterparts from other familial configurations. Implications of these findings are discussed. PMID:2375262

Parish, T S

1990-01-01

242

Family and family therapy in Russia.  

PubMed

This article represents the information about family and family therapy in the context of culture, traditions and contemporary changes of social situations in Russia. The legislation of family rights are mentioned within items about marriage and family in the Constitution, Civil Code and Family Code of the Russian Federation which has changed during recent years. The definition of family and description of family structure are given through the prism of the current demographic situation, dynamics of statistics of marriage and divorce rates, mental disorders, disabilities and such phenomena as social abandonment. The actual curriculum, teaching of family therapy and its disadvantages, system of continuous education, supervision and initiatives of the Institute of Integrative Family Therapy in improvement of preparing of specialists who can provide qualified psychosocial assistance for the family according to the actual needs of society are noted. The directions of state and private practice of family counselling and therapy both for psychiatric patients and medical patients, for adults and children in a family systemic approach are highlighted with an indication of the spectrum of techniques and methods used by Russian professionals. The main obstacles and perspectives of development of family therapy in Russia are summarized. PMID:22515460

Bebtschuk, Marina; Smirnova, Daria; Khayretdinov, Oleg

2012-04-01

243

Family Reading Night  

ERIC Educational Resources Information Center

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…

Hutchins, Darcy; Greenfeld, Marsha; Epstein, Joyce

2007-01-01

244

Professionalizing familial care: examining nurses' unpaid family care work.  

PubMed

An emergent grounded theory was used to examine Professionalizing Familial Care, the processes by which registered nurses enact professional care work within the familial care domain. A sample of registered nurses (n = 32) were interviewed by telephone at multiple time points over a 6- to 12-month period. The findings revealed that the professionalization of care work was often reinforced by societal, familial, and self-expectations. Setting Limits and Making Connections were the dialectical overarching processes shaping the professionalizing of care while 6 interdependent substrategies emerged: assessing, advising, advocating, collaborating, coordinating, and consulting. These findings will help inform refinement of policies and practices for nurses who provide care for an older relative. PMID:24786201

St-Amant, Oona; Ward-Griffin, Catherine; Brown, Judith Belle; Martin-Matthews, Anne; Sutherland, Nisha; Keefe, Janice; Kerr, Michael S

2014-01-01

245

Family Resiliency: A Neglected Family Construct.  

ERIC Educational Resources Information Center

Examines research on the construct of resiliency and examines factors that promote resiliency in individuals and families. Implications for family counselors, societal systems, and future research are discussed. (Author/MKA)

Buckley, Matthew R.; Thorngren, Jill M.; Kleist, David M.

1997-01-01

246

Family Preservation (Family Focus Research Project).  

National Technical Information Service (NTIS)

The Family Focus Research project provided a comprehensive evaluation of home-based crisis intervention strategies for families with children at risk of placement into substitute care. It examined the relative costs and benefits of three types of brief, i...

J. R. Taplin C. Rowland

1983-01-01

247

How Are Preferences Revealed?  

PubMed Central

Revealed preferences are tastes that rationalize an economic agent’s observed actions. Normative preferences represent the agent’s actual interests. It sometimes makes sense to assume that revealed preferences are identical to normative preferences. But there are many cases where this assumption is violated. We identify five factors that increase the likelihood of a disparity between revealed preferences and normative preferences: passive choice, complexity, limited personal experience, third-party marketing, and intertemporal choice. We then discuss six approaches that jointly contribute to the identification of normative preferences: structural estimation, active decisions, asymptotic choice, aggregated revealed preferences, reported preferences, and informed preferences. Each of these approaches uses consumer behavior to infer some property of normative preferences without equating revealed and normative preferences. We illustrate these issues with evidence from savings and investment outcomes.

Beshears, John; Choi, James J.; Laibson, David; Madrian, Brigitte C.

2009-01-01

248

Family Capital: Implications for Interventions with Families  

ERIC Educational Resources Information Center

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…

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

2011-01-01

249

Families with Kids  

MedlinePLUS

... Families & Friendships Military Sexual Trauma Depression mild Traumatic Brain Injury Life Stress Health & Wellness Anger Stigma Suicide Prevention ... Post-Traumatic Stress Sleep Alcohol & Drugs mild Traumatic Brain Injury Resilience Families with Kids Depression Families & Friendships Tobacco ...

250

Family Activities for Fitness  

ERIC Educational Resources Information Center

This article discusses how families can increase family togetherness and improve physical fitness. The author provides easy ways to implement family friendly activities for improving and maintaining physical health. These activities include: walking, backyard games, and fitness challenges.

Grosse, Susan J.

2009-01-01

251

Improving Family Communications  

MedlinePLUS

... for Families (PedFACTs) Infant CPR Anytime® (English/Spanish) Pediatric First Aid for Caregivers and Teachers (PedFACTs) Participant Manual Allergies and Asthma Family Life Health Management - Medical Home Family Dynamics ...

252

Family in Crisis  

MedlinePLUS

... Family Life Health Management - Medical Home Family Dynamics Adoption & Foster Care Communication & Disciplines Types of Families Media ... About Breastfeeding Teen Parents Pacifier Safety Questions About Adoption Healthy Children Radio: Protecting Children From Sexual Abuse ( ...

253

Importance of Family Routines  

MedlinePLUS

... First Aid for Families (PedFACTs) Infant CPR Anytime® (English/Spanish) Pediatric First Aid for Caregivers and Teachers (PedFACTs) Participant Manual Infant CPR Anytime® Dark Skin (English/Spanish) Family Life Health Management - Medical Home Family ...

254

Families Experiencing Homelessness  

MedlinePLUS

... compound the stress the family feels. Families experiencing homelessness: Are typically comprised of a mother in her ... than other low-income families. 4 Mothers Experiencing Homelessness: The impact of homelessness on mothers is profound. ...

255

Family Adjustment to Aphasia  

MedlinePLUS

Family Adjustment to Aphasia Richard S. was a senior manager at a small company and next in line ... It also presents a great challenge to the family. There may be tension among family members and ...

256

Contacting My Donor Family  

MedlinePLUS

... My Donor Family Newsroom Minorities Contacting My Donor Family Writing anything can be a challenge. Staring at ... down to write a note to your donor family can feeling overwhelming. The good news is that ...

257

Media Time Family Pledge  

MedlinePLUS

... Media Time Family Pledge Family Life Listen Media Time Family Pledge Article Body At the beginning and ... them. Kids learn best with small lessons over time as opposed to one big lecture or sit- ...

258

Economics and Family Bereavement Following a Fatal Farm Accident.  

ERIC Educational Resources Information Center

Interviews with 21 families who had lost the farm operator or a young person in a fatal farm accident revealed that, in every family, economic difficulties (operating the farm, providing for the family, and managing resources of time, energy, and capital) were entangled in the grief process. Implications for rural counselors and mental health…

Rosenblatt, Paul C.; Karis, Terri A.

1993-01-01

259

Fathering and Acculturation: Immigrant Indian Families with Young Children.  

ERIC Educational Resources Information Center

Investigates patterns of father involvement and the influence of acculturation in a sample of Indian immigrant families. Results, based on naturalistic observations of 40 families, revealed three types of fathers: engaged, caretaker, and disengaged. Disengaged belonged to the least acculturated families, whereas the most acculturated were the most…

Jain, Anju; Belsky, Jay

1997-01-01

260

Father Influences on Employed Mothers' Work-Family Balance  

ERIC Educational Resources Information Center

This study employed the ecological systems perspective and gender ideology theory to examine the influence of fathers' paid work-family crossover and family involvement on self-reports of work-family balance by employed mothers with children under the age of 13 (N = 179). Multiple regression analyses revealed that fathers' crossover factors had a…

Fagan, Jay; Press, Julie

2008-01-01

261

Family Support and Conflict: Prospective Relations to Adolescent Depression  

Microsoft Academic Search

The relations between family support, family conflict, and adolescent depressive symptomatology were examined longitudinally in a sample of 231 female and 189 male adolescents and their mothers. Structural equation models revealed that less supportive and more con-flictual family environments were associated with greater depressive symptomatology both concurrently and prospectively over a 1-year period. Conversely, adolescent depressive symptomatology did not predict

Lisa Sheeber; Hyraan Hops; Anthony Alpert; Betsy Davis; Judy Andrews

1997-01-01

262

The GDNF family: Signalling, biological functions and therapeutic value  

Microsoft Academic Search

Members of the nerve growth factor (NGF) and glial cell line-derived neurotrophic factor (GDNF) families — comprising neurotrophins and GDNF-family ligands (GFLs), respectively — are crucial for the development and maintenance of distinct sets of central and peripheral neurons. Knockout studies in the mouse have revealed that members of these two families might collaborate or act sequentially in a given

Matti S. Airaksinen; Mart Saarma

2002-01-01

263

Familism, Family Environment, and Suicide Attempts among Latina Youth  

ERIC Educational Resources Information Center

In this study, we examined the relationship between familism and family environment type as well as the relationship between family environment type and suicide attempts among Latina youth. Latina teen attempters (n = 109) and nonattempters (n = 107) were recruited from the New York City area. Latent class analysis revealed three family

Pena, Juan B.; Kuhlberg, Jill A.; Zayas, Luis H.; Baumann, Ana A.; Gulbas, Lauren; Hausmann-Stabile, Carolina; Nolle, Allyson P.

2011-01-01

264

Familial apolipoprotein E deficiency.  

PubMed Central

A unique kindred with premature cardiovascular disease, tubo-eruptive xanthomas, and type III hyperlipoproteinemia (HLP) associated with familial apolipoprotein (apo) E deficiency was examined. Homozygotes (n = 4) had marked increases in cholesterol-rich very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL), which could be effectively lowered with diet and medication (niacin, clofibrate). Homozygotes had only trace amounts of plasma apoE, and accumulations of apoB-48 and apoA-IV in VLDL, IDL, and low density lipoproteins. Radioiodinated VLDL apoB and apoE kinetic studies revealed that the homozygous proband had markedly retarded fractional catabolism of VLDL apoB-100, apoB-48 and plasma apoE, as well as an extremely low apoE synthesis rate as compared to normals. Obligate heterozygotes (n = 10) generally had normal plasma lipids and mean plasma apoE concentrations that were 42% of normal. The data indicate that homozygous familial apoE deficiency is a cause of type III HLP, is associated with markedly decreased apoE production, and that apoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. Images

Schaefer, E J; Gregg, R E; Ghiselli, G; Forte, T M; Ordovas, J M; Zech, L A; Brewer, H B

1986-01-01

265

Family Patterns of Gender Role Attitudes  

PubMed Central

Study goals were to identify family patterns of gender role attitudes, to examine the conditions under which these patterns emerged, and to assess the implications of gender attitude patterns for family conflict. Participants were mothers, fathers, and first- and second-born adolescents from 358 White, working and middle-class US families. Results of cluster analysis revealed three gender role attitude patterns: egalitarian parents and children, traditional parents and children, and a divergent pattern, with parents more traditional and children more egalitarian. Mixed-model ANOVAs indicated that these family patterns were related to socioeconomic status, parents' time spent in gendered household tasks and with children, and the gender constellation of the sibling dyad. The traditional family group reported the most family conflict.

Marks, Jaime; Bun, Lam Chun; McHale, Susan M.

2012-01-01

266

Familial mesothelioma: a report of two families  

SciTech Connect

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.

Hammar, S.P.; Bockus, D.; Remington, F.; Freidman, S.; LaZerte, G.

1989-02-01

267

Family structure, family organization, and quality of family life  

Microsoft Academic Search

This study examines how family organization is associated with the quality of family life for parents in first marriages,\\u000a remarriages with biological children, and several types of stepfamilies. Data are drawn from the 1987–1988 National Survey\\u000a of Families and Households; only married couples in which both spouses participated in the survey and who had children under\\u000a age 19 in the

Patricia Voydanoff; Mark A. Fine; Brena W. Donnelly

1994-01-01

268

Families and family therapy in Hong Kong.  

PubMed

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. PMID:22515459

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

2012-04-01

269

Familism, Family Environment, and Suicide Attempts among Latina Youth  

PubMed Central

This study examined the relationship between familism and family environment type as well as the relationship between family environment type and suicide attempts among Latina youth. Latina teen attempters (n=109) and non-attempters (n=107) were recruited from the NYC area. Latent class analysis revealed three family environment types: tight-knit; intermediate-knit; and loose-knit. Tight-knit families (high cohesion and low conflict) were significantly less likely to have teens that attempted suicide as compared to intermediate-knit families or loose-knit families. Moreover, familism increased the odds of being in the tight-knit family vs. the loose-knit family and the odds of being in the tight-knit family vs. the intermediate-knit. Results suggest that familism may protect against suicide behavior among Latinas via its influence on family environment.

Pena, Juan B.; Kuhlberg, Jill A.; Zayas, Luis H.; Baumann, Ana A.; Gulbas, Lauren; Hausmann-Stabile, Carolina; Nolle, Allyson P.

2011-01-01

270

Analysis of the SOS response of Vibrio and other bacteria with multiple chromosomes  

PubMed Central

Background The SOS response is a well-known regulatory network present in most bacteria and aimed at addressing DNA damage. It has also been linked extensively to stress-induced mutagenesis, virulence and the emergence and dissemination of antibiotic resistance determinants. Recently, the SOS response has been shown to regulate the activity of integrases in the chromosomal superintegrons of the Vibrionaceae, which encompasses a wide range of pathogenic species harboring multiple chromosomes. Here we combine in silico and in vitro techniques to perform a comparative genomics analysis of the SOS regulon in the Vibrionaceae, and we extend the methodology to map this transcriptional network in other bacterial species harboring multiple chromosomes. Results Our analysis provides the first comprehensive description of the SOS response in a family (Vibrionaceae) that includes major human pathogens. It also identifies several previously unreported members of the SOS transcriptional network, including two proteins of unknown function. The analysis of the SOS response in other bacterial species with multiple chromosomes uncovers additional regulon members and reveals that there is a conserved core of SOS genes, and that specialized additions to this basic network take place in different phylogenetic groups. Our results also indicate that across all groups the main elements of the SOS response are always found in the large chromosome, whereas specialized additions are found in the smaller chromosomes and plasmids. Conclusions Our findings confirm that the SOS response of the Vibrionaceae is strongly linked with pathogenicity and dissemination of antibiotic resistance, and suggest that the characterization of the newly identified members of this regulon could provide key insights into the pathogenesis of Vibrio. The persistent location of key SOS genes in the large chromosome across several bacterial groups confirms that the SOS response plays an essential role in these organisms and sheds light into the mechanisms of evolution of global transcriptional networks involved in adaptability and rapid response to environmental changes, suggesting that small chromosomes may act as evolutionary test beds for the rewiring of transcriptional networks.

2012-01-01

271

Screening a family for hereditary chronic pancreatitis.  

PubMed

Chronic "idiopathic" pancreatitis (CP) in a 7 year-old-boy, whose father has suffered from CP, and whose former grandfather had suffered from pains possibly of pancreatic origin, led us suspect a hereditary etiology. An analysis, extended in a control fashion to the relatives of the healthy spouse of the affected grandfather, surprisingly revealed 2 more proven and 3 more suspected CP, giving the overall number of 8 affected members in this 35-member 3 generation kindred and revealed a maternal heredity instead of paternal heredity (which was first thought to be apparent). We therefore recommend that in a family suspected to suffer from hereditary CP (HCP), a screening should be extended to cover even the unaffected spouse's family--the present extended study revealed for 23 new members them to belong in an affected family. Without an extensive screening advises for family planning, alcohol consumption etc. can not be given. Plain abdominal X-ray accompanied with epigastric ultrasonographic are suitable for screening, which might be extended to every individual in smaller families, but may be safely restricted to the members ever suffered from epigastric pains in the case of a huge family. Pancreatic duct anomalies, hyperlipidaemia, hypercalcaemia, aminoaciduria or hyperimmunoglobulinaemia, all of which have been seen to accompany HCP, were not present in this family. Neither was any linkage found between the penetrance of HCP and ABO/Rh blood groups or HLA haplotypes. PMID:2263397

Nordback, I; Saarenpää-Heikkilä, O; Koskimies, S

1990-01-01

272

Family Participation in Policymaking.  

ERIC Educational Resources Information Center

This bulletin focuses on family participation in mental health policymaking and highlights state efforts to increase family involvement. Articles include: (1) "Promoting Family Member Involvement in Children's Mental Health Policy Making Bodies," which describes how different states are promoting family member involvement in various statutory and…

Caplan, Elizabeth, Ed.; Blankenship, Kelly, Ed.; McManus, Marilyn, Ed.

1998-01-01

273

[Teaching about Family Law].  

ERIC Educational Resources Information Center

This issue of "Focus on Law Studies""contains a special emphasis on teaching about law and the family", in the form of the following three articles: "Teaching Family Law: Growing Pains and All" (Susan Frelich Appleton); "The Family Goes to Court: Including Law in a Sociological Perspective on the Family" (Mary Ann Lamanna); and Michael Grossberg's…

Ryan, John Paul, Ed.

1992-01-01

274

Building Family Capital  

ERIC Educational Resources Information Center

The family is centre stage of many current policy agendas and this is an exciting time to expand the understanding of the wider benefits of learning as a family and in a family. This article aims to open up new discussions and debate on using the concept of "family capital". The author states that as the debate on the social value of learning and…

Lamb, Penny

2007-01-01

275

Changing Family Forms.  

ERIC Educational Resources Information Center

Explores the definition of family. Considers three facets of the contemporary family measured by U.S. Census statistics: (1) marriage and divorce trends; (2) declining fertility; and (3) the rise in single-headed families. Addresses the societal changes (economic, cultural, legal, and technological) that have influenced the changes in family

Seibert, M. Therese; Willetts, Marion C.

2000-01-01

276

Family Processes and Identity  

Microsoft Academic Search

\\u000a Family is a unique relationship context that influences the contents and processes of identity. The identity of individuals\\u000a emerges, at least in part, from being members of a family. Moreover, the family context influences not only the development\\u000a of one’s personal identity as a family member but also other aspects of personal identity. Family is not a neutral environment\\u000a for

Eugenia Scabini; Claudia Manzi

277

US weapons secrets revealed  

SciTech Connect

Extraordinary details have only recently been revealed about the struggle over the control of early U.S. nuclear weapons and their initial deployments abroad. The information comes from a newly declassified top secret report, part of a larger study, The History of the Strategic Arms Competition, 1945-1972, commissioned by Defense Secretary James R. Schlisinger in summer 1974.

Norris, R.S.; Arkin, W.M.

1993-03-01

278

AIDS and the family: families take care.  

PubMed

In 1994, the International Year of the Family, the WHO's Global Program on AIDS (GPA) is marking World AIDS Day under the banner AIDS and the Family. Traditional and non-traditional families have a crucial role to play in addressing the HIV/AIDS pandemic. In the run-up to World AIDS Day--and on 1 December itself--GPA urges the world to focus on how families of all kinds are affected by AIDS, on how they can be more effective in prevention and care, and on how they can contribute to global efforts against the disease. For GPA, any group of people linked by feelings of trust, mutual support and a common destiny may be seen as a family. The concept need not be limited to ties of blood, marriage, sexual partnership or adoption. In this light, religious congregations, workers' associations, support groups of people with HIV/AIDS, gangs of street children, circles of drug injectors, collectives of sex workers and networks of governmental, nongovernmental and intergovernmental organizations may all be regarded as families within the over-arching family of humankind. Every kind of family should take care to protect its members from HIV. And all families should take care of those among them who fall ill with AIDS. Families take care. "Families whose bonds are based on love, trust, nurturing and openness are best placed to protect their members from infection and give compassionate care and support to those affected by HIV or AIDS," says Dr. Hiroshi Nakajima, Director-General of the WHO [World Health Organization]. PMID:12287963

1994-01-01

279

Supervisor referrals to work-family programs.  

PubMed

Supervisors play an important role in determining whether employees use work-family programs. Yet little research has examined the factors that relate to supervisor perceptions of and behaviors surrounding work-family programs. This study builds on past research, the theory of reasoned action, and expectancy theory to explore factors that contribute to supervisors' decisions to refer subordinates to work-family programs. Usable surveys assessing perceptions of work-family programs were completed and returned by 1972 managers in a large government agency. Results revealed that program awareness and instrumentality perceptions both contributed uniquely to predicting the frequency of supervisors' referrals to work-family programs. Supportive attitudes also predicted referrals, but only through their shared relationship with instrumentality perceptions. PMID:15053713

Casper, Wendy J; Fox, Kevin E; Sitzmann, Traci M; Landy, Ann L

2004-04-01

280

Family network support and mental health recovery.  

PubMed

Family members often provide critical support to persons living with a serious mental illness. The focus of this study was to determine which dimensions of the family support network were most important to the recovery process from the perspective of the recovering person. Consumers of a community mental health program completed in-depth structured interviews that included separate measures of social network support and recovery. Consumers named an average of 2.6 family members on the social network, interacted with family on a weekly basis, and were quite satisfied with their contact. This study revealed that support and reciprocity with family members are important dimensions of a personal support network that relates to the recovery process. PMID:20074121

Pernice-Duca, Francesca

2010-01-01

281

Strengthening Family Practices for Latino Families  

ERIC Educational Resources Information Center

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…

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

2010-01-01

282

Family assessment: Centripetal and centrifugal family systems  

Microsoft Academic Search

A consideration of interactional style is useful to both researchers and clinicians interested in family assessment. This paper offers data and process evaluation scales designed to determine family interactional style, conceptualized as a continuum ranging from centripetal (CP) to centrifugal (CF), and containing at the midpoint a mixed area in which facets of both the CP and the CF styles

Martha Kelsey-smith; W. Robert Beavers M. D

1981-01-01

283

The impact of a near-death experience on family relationships  

Microsoft Academic Search

This study explores the influence that a near-death experience (NDE) had on the family relationships of eleven NDErs, based on in-depth interviews. I detail the changes in relationships with extensive quotes providing data on family interactions. Analysis of the adjustments of NDErs within their family relationships reveals that while some families cope well and are positively influenced by an NDE,

Mori Insinger

1991-01-01

284

Family Caregiver Alliance  

MedlinePLUS

... PolicyDigest Newsletter Caregiver Connect SF Bay Area Services Family Care Navigator Research Registry Support Groups Caregiver Stories ... Asked Questions Professional Inquiry Form Publication Order Form Family Caregiver Alliance supports and sustains the important work ...

285

Helping Friends and Family  

MedlinePLUS

... chapter Join our online community Helping Friends and Family Part of living well with Alzheimerâ??s is adjusting to your â??new normalâ?ť and helping family and friends do the same. Knowing what to ...

286

Family Patterns in Dogmatism  

ERIC Educational Resources Information Center

Explored Rokeach's theory that dogmatism develops within the family. Subjects were college students and their parents who took the 40-item Dogmatism Scale. Results indicated that family experiences are one source of children's dogmatism but not the only source. (SDH)

Lesser, Harvey; Steininger, Marion

1975-01-01

287

Shipwrecks Reveal Ocean Currents  

NSDL National Science Digital Library

Abandoned ships and other objects lost at sea may ride ocean currents for months or even years before sinking or washing ashore. This video segment, adapted from a NOVA broadcast, describes how scientists at the Woods Hole Oceanographic Institute plotted the trajectories of abandoned sailing ships, whose positions were reported by 19th century sea captains. The tracks of these derelict ships reveal oceanic circualtion patterns, particularly the Gulf Stream, which sometimes transported these derelicts from the coast of the Carolinas across the Atlantic to Great Britain, a journey which took about ten months. The segment is three minutes five seconds in length.

288

Corporal punishment in rural Colombian families: Prevalence, family structure and socio-demographic variables.  

PubMed

Objective: To reveal the prevalence of corporal punishment in a rural area of Colombia and its correlates to family structure and other socio-demographic variables. Method: A survey about childrearing and childcare was developed for this study, including a specific question about corporal punishment that was developed based on the Conflict Tactics Scale (CTS). Family structure was categorized as follows, based on previous literature: 'nuclear family,' 'single parent' family, 'extended family,' 'simultaneous family' and 'composed family.' Results: Forty-one percent of the parents surveyed admitted they had used corporal punishment of their children as a disciplinary strategy. The type of family structure, the number of children living at home, the age of the children, the gender of the parent who answered the survey, and the age and gender of the partner were significant predictors of corporal punishment. Conclusion: Family structure is an important variable in the understanding of corporal punishment, especially in regard to nuclear families that have a large number of children and parents who started their parental role early in life. PMID:24275547

González, Martha Rocío; Trujillo, Angela; Pereda, Noemí

2014-05-01

289

Single Parent Families  

Microsoft Academic Search

Major changes are taking place in American and Cana- dian families exerting dramatic influences on family life and the pro- fessional of nursing. This was a recently completed project involving a multidisciplinary team of scholars from across North America that brought together the latest information available on a wide variety of single parent families. The purpose of this chapter is

Shirley M. H. Hanson; Marsha L. Heims; Doris J. Julian; Marvin B. Sussman

1994-01-01

290

Families and Assisted Living  

ERIC Educational Resources Information Center

Purpose: Despite growing research on assisted living (AL) as a residential care option for older adults, the social ramifications of residents' transitions to AL are relatively unexplored. This article examines family involvement in AL, including family structures of residents, types of involvement from family members living outside the AL…

Gaugler, Joseph E.; Kane, Robert L.

2007-01-01

291

Doing Better for Families  

ERIC Educational Resources Information Center

All OECD governments want to give parents more choice in their work and family decisions. This book looks at the different ways in which governments support families. It seeks to provide answers to questions like: Is spending on family benefits going up, and how does it vary by the age of the child? Has the crisis affected public support for…

OECD Publishing (NJ3), 2011

2011-01-01

292

Single Mothers "Do" Family  

ERIC Educational Resources Information Center

This paper explores how single mothers both incorporate others into family life (e.g., when they ask others to care for their children) and simultaneously "do families" in a manner that holds out a vision of a "traditional" family structure. Drawing on research with White, rural single mothers, the author explores the manner in which these women…

Nelson, Margaret K.

2006-01-01

293

Year of the Family.  

ERIC Educational Resources Information Center

This special issue focuses on problems and challenges confronting the California family and on research and extension efforts to provide at least partial answers. Research briefs by staff include "Challenges Confront the California Family" (state trends in poverty, divorce, single-parent families, child abuse, delinquency, teen births, limited…

California Agriculture, 1994

1994-01-01

294

Promoting Family Literacy.  

ERIC Educational Resources Information Center

This document is designed to help literacy practitioners and others promote and establish family literacy programs to prepare adult learners in South Carolina for their roles as parents, workers, health consumers, and citizens. The rationale for promoting family literacy is explained. The following topics are discussed: a design for family

Campbell, Dottie C.; Wilson, Kathleen

295

Strengthening America's Families.  

ERIC Educational Resources Information Center

Improving parenting practices and the family environment is the most effective, enduring strategy for combating juvenile delinquency. Describes the Office of Juvenile Justice and Delinquency Prevention's Strengthening America's Families Initiative. Highlights several family-focused prevention programs identified as exemplary, explaining how they…

Alvarado, Rose; Kumpfer, Karol

2000-01-01

296

Megatrends in Family Business  

Microsoft Academic Search

The past decade has brought changes in our understanding of family businesses. This article identifies 10 “megatrends,” which are evolving changes fundamental to understanding and working with family businesses. Identified trends include focusing on generational transitions rather than business succession; team management and ownership as a developing norm; the increasing importance of strategic planning in family business; increasing financial sophistication;

Craig E. Aronoff

1998-01-01

297

Launching Family Message Journals.  

ERIC Educational Resources Information Center

This lesson introduces Family Message Journals, a tool for encouraging family involvement and supporting writing to reflect and learn. First and second graders are led into composing through demonstration, guided writing, and finally independent writing of messages that they will bring home for family to read and write a reply. During the three…

Wollman-Bonilla, Julie

298

Family Customs and Traditions.  

ERIC Educational Resources Information Center

Recognizing the importance of maintaining open communication with immediate and extended family members, this book provides a compilation of ideas for family traditions and customs that are grounded in compassion and human kindness. The traditions were gathered from families in the United States and Canada who responded to advertisements in…

MacGregor, Cynthia

299

Religion and the Family.  

ERIC Educational Resources Information Center

Examines religion's place in the social sciences, reciprocal influences of family and religion, cohesion/polarization in American Catholic families, religion in Middletown, USA, gender and religion in Canadian and American students, domestic/religious individualism and suicide, and the New Christian Right's view of the family. (BH)

Thomas, Darwin L., Ed.

1985-01-01

300

Marriage and Family Counseling.  

ERIC Educational Resources Information Center

Provides an overview of marriage and family counseling, including the growth of interest in this specialty within the American Counseling Association (ACA). Discusses the evolution of marriage and family counseling within ACA, standards for training, credentialing, and unique ethical considerations when counseling couples and families. (Author)

Smith, Robert L.; And Others

1995-01-01

301

The Family Leukemia Association  

ERIC Educational Resources Information Center

An association of families of children with leukemia, the Family Leukemia Association (FLA), was recently established in Toronto. This paper discusses (a) philosophy of the FLA; (b) formative years of this organization; (c) problems encountered by leukemic children and their families; and (d) the FLA's past and future educational and social…

Pollitt, Eleanor

1976-01-01

302

The Family Farm Project  

NSDL National Science Digital Library

Kenyon College's Family Farm Project, "a three-year study exploring family farming and community life in Knox County, Ohio," presents an intimate multimedia view of the daily life of the family farm, which some consider a vanishing institution in America.

1996-01-01

303

Family Support Evaluation.  

ERIC Educational Resources Information Center

The Family Resource Coalition of America (FRCA) and the National Resource Center for Family Centered Practice convened a meeting of evaluators, policymakers, and program practitioners to discuss the issue of evaluation in the field of family support. The goal was to bring together those who were implementing programs, evaluating programs, and…

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

1998-01-01

304

Families in Multicultural Perspective.  

ERIC Educational Resources Information Center

Covering contemporary Third World as well as Western families, this teaching text addresses topics essential for developing a multicultural perspective on the family. It is an ideal text for comparative family courses and includes exercises (as well as exercise guidelines for instructors) developed to challenge students' existing viewpoints and…

Ingoldsby, Bron B., Ed.; Smith, Suzanna, Ed.

305

Families in Transition.  

ERIC Educational Resources Information Center

This issue of "Emphasis" deals with families in transition, providing some model programs for the new family and some historical perspectives on how families have developed over time. Articles include: (1) "Nostalgia on the Right" (Nancy Theriot); (2) "Heart to Heart" (Nancy Harrington-MacLennan); (3) "The Media Get the Message" (Janet Alyn); (4)…

Britton, Patti O., Ed.; McGee, Michael, Ed.

1987-01-01

306

Family Issues for the Nineties.  

ERIC Educational Resources Information Center

This presentation reviews the characteristics of the Canadian family at present. Discussion focuses on divorce, family structure, reproductive technology, fertility, family size, family mobility, family support, government role, women's participation in the labor force, daily family routines, television viewing, work and the family, the need for…

Mirabelli, Alan

307

Family practice in Turkey.  

PubMed

The national project 'Transformation in Health' was started in 2005 to provide expert primary care by family physicians, and decrease expenses in Turkey. The number of family physicians was far below the need, so public physicians were promoted to family physician status after a 10-day intensive course. The government declared some satisfactory results, but privately paid family physicians were not accepted into the system. Furthermore, the government stopped paying for their services from private settings. Some family physicians became unemployed as the major payer for all forms of medical care in Turkey denied their services. The process showed it's value in time. Nevertheless, family physicians should be the core of this transformation as family medicine is an academic and a scientific discipline and a primary care-oriented specialty with its own specific educational content, research and base of evidence, which cannot be achieved through standard medical education. PMID:24682837

Ozsahin, Akatli Kursad

2014-03-01

308

The Climate Revealed  

NASA Astrophysics Data System (ADS)

El Nińo, La Nińa, global warming--terms that crop up frequently in current media coverage of anomalous weather conditions: a spring thaw in January in New York City...a snowstorm in Bakersfield, California...winterlike temperatures in Miami. Such phenomena as these and reports of devastating droughts, floods, and storms around the world bring home the fact of how deeply climate affects our daily lives--and of our inability to control the consequences of climatic events. Extraordinarily timely, The Climate Revealed explores the human-climate "relationship" in all its fascinating complexity. Packed with 250 beautiful, full-color photographs, the volume travels the globe to provide a detailed portrait of individual climate zones from the polar icecaps to the fiercest deserts. The expert and highly accessible text uncovers the essential elements--earth, air, fire and water--that make up the world's various climates. William Burroughs reveals the dramatic discoveries and techniques of historians and archaeologists in their search to understand climates of the past. In the book's conclusion he considers the future and presents every facet of the current environmental debate. With its detailed coverage of the past, present, and future, this marvelous work is essential reading for all those who want to understand one of the most critical facets of life, climate. William Burroughs is a well known and successful science author who has written four books on the weather including Does the Weather Really Matter? (1997), Weather Cycles: Real or Imaginary (1992), and Watching the World's Weather (1991), all published by Cambridge University Press.

Burroughs, William

1999-10-01

309

Nramp Defines a Family of Membrane Proteins  

Microsoft Academic Search

Nramp (natural resistance-associated macrophage protein) is a newly identified family of integral membrane proteins whose biochemical function is unknown. We report on the identification of Nramp homologs from the fly Drosophila melanogaster, the plant Oryza sativa, and the yeast Saccharomyces cerevisiae. Optimal alignment of protein sequences required insertion of very few gaps and revealed remarkable sequence identity of 28% (yeast),

M. Cellier; G. Prive; A. Belouchi; T. Kwan; V. Rodrigues; W. Chia; P. Gros

1995-01-01

310

Methadone Maintenance: The Addict's Family Recreated.  

ERIC Educational Resources Information Center

A study of four methadone clinics, the addicts treated at these clinics, and their families, reveals basic dissonances in treatment ideology and professional-paraprofessional relationships which, combined with the addict's particular mode of functioning, make significant change in his behavior improbable. (Author)

Schwartzman, John; Bokos, Peter

1979-01-01

311

Family-group Names for Earwigs (Dermaptera)  

Microsoft Academic Search

Family-group names for all taxa of earwigs (living and extinct) are listed with dates and sources indicated; in total 85 entries are recorded along with a single entry of dubious taxonomic identity (i.e., Ocelliidae, nomen dubium, a name apparently applied to a fossil earwig nymph of uncertain status and identity). This survey revealed two instances in which currently accepted names

MICHAEL S. ENGEL; FABIAN HAAS

2007-01-01

312

Second Year Evaluation Report: Family to Family Program.  

ERIC Educational Resources Information Center

This evaluation report of the Family to Family Program assesses parental attitudes towards their Family to Family experience and the functioning of their emotionally impaired children. Topics include administration and administrative support; recruitment of consumer families; identification of host families; consumer support services; and consumer…

Ramey, Luellen; Meyer, David P.

313

Early-onset familial Alzheimer's disease (EOFAD).  

PubMed

Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations in presenilin (PS1, PS2) and amyloid precursor protein (APP) genes have been identified in EOFAD. The mutations within these three genes (PS1/PS2/APP) affect a common pathogenic pathway in APP synthesis and proteolysis, which lead to excessive production of amyloid ?. Compared with sporadic Alzheimer's disease (AD), EOFAD has some distinctive features including early age at onset, positive familial history, a variety of non-cognitive neurological symptoms and signs, and a more aggressive course. There is marked phenotypic heterogeneity among different mutations of EOFAD. Studies in presymptomatic mutation carriers reveal biomarkers abnormalities. EOFAD diagnosis is based on clinical and family history, neurological symptoms and examination, biomarker features, as well as genotyping in some cases. New therapeutic agents targeting amyloid formation may benefit EOFAD individuals. PMID:22728850

Wu, Liyong; Rosa-Neto, Pedro; Hsiung, Ging-Yuek R; Sadovnick, A Dessa; Masellis, Mario; Black, Sandra E; Jia, Jianping; Gauthier, Serge

2012-07-01

314

Family function in families of children with Duchenne muscular dystrophy.  

PubMed

This article investigates the relationships of child- and family-related variables with family function in families with children who have Duchenne muscular dystrophy. Child-related variables included level of disability (indicator: Barthel Index) and age at diagnosis. Family-related variables included caregiver health status (indicator: Duke Health Profile), family income and employment, family support (indicator: Family APGAR), family hardiness (indicator: Family Hardiness Index), and family functioning (indicator: Family Assessment Device). Family function displayed a significant correlation with age at diagnosis, but not with disability level. It was also significantly correlated with family hardiness, caregiver health status, and levels of family support, but not with income or employment variables. These findings highlight the need to assist families to cope with the presence of serious illness in their children. PMID:17873636

Chen, Jih-Yuan; Clark, Mary-Jo

2007-01-01

315

Ancient Writings Revealed!  

NSDL National Science Digital Library

Sometime in the 3rd century BCE, the noted scholar and scientist Archimedes composed a series of diagrams and passages of text on a manuscript that was subsequently written over in the Middle Ages by a monk. Long thought to be lost forever, the document was given new life in 1906 when a Danish professor identified this item. Eventually the document found its way to The Walters Art Museum in Baltimore, and it now appears that scientists and researchers will be able to uncover Archimedesâ original writings. This delightful saga will unfold courtesy of this website, created by the Exploratorium Museum in San Francisco. Working in tandem with researchers at the Stanford Synchrotron Radiation Laboratory, they will use an intense X-Ray to reveal the original letters and diagrams. Visitors will be able to watch all of this happen in real time on a webcast (or take a look on the archived webcast after the event is over), and learn about the original document, and how researchers read such ancient texts.

2006-01-01

316

Student Perceptions of Need for Family Life and Sex Education.  

ERIC Educational Resources Information Center

Describes results of a study designed to discover the views of third, sixth, ninth, and twelfth graders about their need for family life and sex education. Data revealed strong desires of students for more information. (JD)

Yarber, William L.

1981-01-01

317

Spectroscopic families among diffuse interstellar bands  

NASA Astrophysics Data System (ADS)

The inability to identify carriers of the diffuse interstellar bands (DIBs) is one of the longest standing problems in astronomy and astrochemistry. It is debated whether these carriers arise from dust or the gas component of the interstellar medium. Furthermore, different strength ratios of major DIBs along different lines of sight revealed many carriers responsible for DIBs origin. Any attempt to recognize these carriers must involve interdisciplinary collaboration between molecular physicists, chemists and astronomers. One expects that progress in this field will be possible when all known DIBs are divided into families in such a way that only one carrier is responsible for all bands belonging to a given family. Among all known DIBs we can see only few relatively strong bands and big number of rather weak ones. With better quality spectra one can expect to find more weak DIBs. It is very probable that DIBs originated by the same carrier have different intensities; in one spectroscopic family we expect to find stronger bands as well as weaker (and extremely weak) ones. Discovering new very weak DIBs may be therefore crucial when we want to find complete spectroscopic families among DIBs. Extracting spectroscopic families of DIBs is a task to be solved with usage of astronomical spectra of the best quality. After extracting any spectroscopic family, its carrier will be to find by the way of laboratory search supported by quantum chemical considerations. Analysing high resolution optical spectra of reddened stars we tried to find out the first true spectroscopic families among DIBs.

Wszo?ek, B.

2012-03-01

318

Marital discord in intact families: Sex differences in child adjustment  

Microsoft Academic Search

Sex differences in child adjustment in response to marital discord in intact families are reviewed. The global hypothesis that boys are more adversely affected than are girls is examined. Contrary to this hypothesis, the review reveals that in intact families maladjustment in boys is not always related to concurrent marital discord more than is malad-justment in girls. However, the association

David W. Purcell; Nadine J. Kaslow

1994-01-01

319

Political Violence, Family Relations, and Palestinian Youth Functioning  

Microsoft Academic Search

This study investigated the associations among involvement in political violence, family relations, and several measures of adolescent social and psychological functioning in a sample of 7,000 Palestinian families from the West Bank and the Gaza Strip. Structural equation analysis of youth self-reported survey data revealed that experience in the intifada (as children) predicted increases in antisocial behavior (males and females)

Brian K. Barber

1999-01-01

320

Cultural-Familial Predictors of Children's Metacognitive and Academic Performance  

Microsoft Academic Search

This study explored the interrelations between cultural-familial factors and measures of metacognitive and academic performance in second-grade children (n= 154). Information concerning socioeconomic status (SES), ethnicity, family structure, and parental behavior were collected from each child. In addition, data concerning metacognitive functioning, GPAs, and CTBS scores were also obtained. A MANCOVA revealed that the ethnic differences which were apparent for

Alvin Y. Wang

1993-01-01

321

Family Services: Role of the Center-Based Teaching Professional.  

ERIC Educational Resources Information Center

A survey of 38 administrators of rehabilitation centers serving blind and visually impaired persons revealed opinions about the major causes of family problems (such as overprotection and financial problems), suggested means of ameliorating these problems, and decribed other types of family services offered by their agencies. (Author/CL)

Ponchillia, Paul E.

1984-01-01

322

Behavioral Comparisons in Autistic Individuals from Multiplex and Singleton Families.  

ERIC Educational Resources Information Center

This study examined Autism Diagnostic Interviews Revised (ADI-R) data for 69 autistic subjects from multiplex (MP) families (with more than one autistic member) and 88 autistic subjects from singleton (SP) families (with only one autistic member). Multivariate analysis revealed no differences between verbal or nonverbal MP and SP groups for ADI-R…

Cuccaro, Michael L.; Shao, Yujun; Bass, Meredyth P.; Abramson, Ruth K.; Ravan, Sarah A.; Wright, Harry H.; Wolpert, Chantelle M.; Donnelly, Shannon L.; Pericak-Vance, Margaret A.

2003-01-01

323

Handy Family Tree  

NSDL National Science Digital Library

In this bilingual (English/Spanish) activity, learners create family trees by tracing the hands of their family members. Learners list inherited traits like eye color, freckles, and chin shape on the fingers of the left hands and list learned traits like favorite foods, games, and pets on the fingers of the right hands. Learners assemble the hands to form trees. Use this family activity to help learners distinguish between inherited and learned traits.

Utah, University O.

2006-01-01

324

Favorite Family Traditions  

NSDL National Science Digital Library

Students use the text The Relatives Came by Cynthia Rylant as a springboard for discussion about family traditions. After identifying the traditions observed by the relatives, students meet in small groups to brainstorm new traditions that could arise from the families gathering together during the winter. The lesson is concluded by having each student write about their own favorite family tradition and share it with a small group.

2012-12-08

325

Familial Transient Global Amnesia  

PubMed Central

Following an episode of typical transient global amnesia (TGA), a female patient reported similar clinical attacks in 2 maternal aunts. Prior reports of familial TGA are few, and no previous account of affected relatives more distant than siblings or parents was discovered in a literature survey. The aetiology of familial TGA is unknown. A pathophysiological mechanism akin to that in migraine attacks, comorbidity reported in a number of the examples of familial TGA, is one possibility. The study of familial TGA cases might facilitate the understanding of TGA aetiology.

Davies, R. Rhys; Larner, A.J.

2012-01-01

326

Family governance practices and teambuilding: paradox of the enterprising family  

Microsoft Academic Search

This paper explores the relationship between family governance practices and financial performance of the business and family\\u000a assets of business-owning families. A business-owning family that shares a focus on preserving and growing wealth as a family\\u000a is defined as the enterprising family. Results of the study are consistent with predictions about the functioning of the enterprising family derived from research

Marta M. Berent-BraunLorraine; Lorraine M. Uhlaner

2012-01-01

327

Latino Families Learning Together.  

ERIC Educational Resources Information Center

The push for the English-only literacy approach sends the wrong message to language-minority families. The Arlington (Virginia) Public Schools have established first-language pilot programs to accelerate Latino students' academic achievement and have welcomed community-based educational initiatives. A family-literacy program motivates parents to…

Osterling, Jorge P.; Violand-Sanchez, Emma; von Vacano, Marcela

1999-01-01

328

Home and Family Life.  

ERIC Educational Resources Information Center

The "Goldfinch" is a magazine that introduces children to different aspects of Iowa History. Each issue contains articles to provide in-depth knowledge of a topic about Iowa. The focus of this issue is homes and family life in Iowa history. Selections address what has been important to Iowa's families over time and what homes were like before…

Frese, Millie K., Ed.

1996-01-01

329

Assessment of Troubled Families.  

ERIC Educational Resources Information Center

Tests the utility of four standardized instruments used in assessing 105 families that sought services in a juvenile corrections setting for their teenage children. Results demonstrate that parents and adolescents can complete standardized assessment instruments and that the information provided can help in understanding distressed families. (RJM)

Combs-Orme, Terri; Thomas, Katherine H.

1997-01-01

330

Family Medicine in Japan  

Microsoft Academic Search

Editor's Note: The fact that Japan has the longest life expectancy in the world does not suggest that they need to revamp their whole sys¬ tem and develop a new system of educating family physicians. How¬ ever, maybe the family physicians can make the statistics even better. I find the volume ofvisits fascinating. When I visited Korea in 1993, there

Blake W. H. Smith; Ray Demers; Linda Garcia-Shelton

2010-01-01

331

Familial amniotic bands.  

PubMed

Amniotic bands can cause a wide variety of deformities and mutilations. They are generally considered sporadic. Two families are presented with apparent familial amniotic band anomalies. Additional cases in the literature are reviewed. These aggregations may be coincidental, and recurrence risk is apparently low. However, amniotic band malformations may be an indication for caution in the use of amniocentesis in future pregnancies. PMID:6829612

Lubinsky, M; Sujansky, E; Sanger, W; Salyards, P; Severn, C

1983-01-01

332

Golden Matrix Families  

ERIC Educational Resources Information Center

This student research project explores the properties of a family of matrices of zeros and ones that arises from the study of the diagonal lengths in a regular polygon. There is one family for each n greater than 2. A series of exercises guides the student to discover the eigenvalues and eigenvectors of the matrices, which leads in turn to…

Fontaine, Anne; Hurley, Susan

2011-01-01

333

Ontogeny in the Family  

Microsoft Academic Search

When ontogeny takes place in a family, and parents provide essential resources for development, the parents become an environmental component to the development of a wide range of offspring traits. Because differences among parents may partly reflect genetic variation, this environmental component contains genes and may itself evolve. Also, when offspring play an active role in family interactions, offspring become

Mathias Kölliker

2005-01-01

334

Familial Gestational Trophoblastic Disease  

Microsoft Academic Search

Familial molar pregnancies and gestational trophoblastic disease are exceedingly rare. In this case report, a family including four sisters and their cousin had molar pregnancies. Eldest sister had repeated molar pregnancies. Second sister had early abortion at her first pregnancy and partial molar pregnancy following blighted ovum by intrauterine insemination at her second pregnancy. Third sister had two molar pregnancies

M. Fallahian

2003-01-01

335

[Focus: Family Communication].  

ERIC Educational Resources Information Center

This issue of the "Journal of the Wisconsin Communication Association" focuses on family communication and contains the following articles: "Marital Typologies: An Alternative Approach to the Study of Communication in Enduring Relations" by Mary Anne Fitzpatrick, "Intimate Communication and the Family" by Marilyn D. LaCourt, and "A Study in…

Barnes, Richard E., Ed.

1977-01-01

336

Families living with HIV  

Microsoft Academic Search

Given the historical emergence of the AIDS epidemic first among gay men in the developed world, HIV interventions have primarily focused on individuals rather than families. Typically not part of traditional family structures, HIV-positive gay men in Europe and the US lived primarily in societies providing essential infrastructure for survival needs that highly value individual justice and freedom. Interventions were

M. J. Rotheram-Borus; D. Flannery; E. Rice; P. Lester

2005-01-01

337

Family History Resources.  

ERIC Educational Resources Information Center

The 12 articles in this issue focus on the theme of family history resources: (1) "Introduction: Family History Resources" (Joseph F. Shubert); (2) "Work, Credentials, and Expectations of a Professional Genealogist" (Coreen P. Hallenbeck and Lewis W. Hallenbeck); (3) "Computers and Genealogy" (Theresa C. Strasser); (4) "Finding Historical Records…

Bookmark, 1991

1991-01-01

338

Marinating the Family.  

ERIC Educational Resources Information Center

Describes the New York Aquarium's program specifically designed for family learning and teaching. The program's goal is to create an environment where child-parent roles are dropped and where the philosophy that no one of us is as smart as all of us prevails. Strategies for family involvement are outlined. (MH)

Hensel, Karen A.

1982-01-01

339

Supporting Evolving Product Families  

Microsoft Academic Search

The goal of this article is to draw attention to the challenging problems associated with supporting evolving product families. After a general problem description, we focus on a single detail of supporting evolving product families. We propose and evaluate using industrial experts a method to measure the similarity between products.

Piërre van de Laar

2009-01-01

340

Education and the Family.  

ERIC Educational Resources Information Center

This book is the report of the Family Ties Commission, which was established by the Association of Teacher Educators to study the relationship between home and school. Following the preface and two introductory essays, "Education and My Family" (K.B. O'Rourke as told to E. Johnson) and "Preparing for Successful Children" (B. Clawson), the book is…

Kaplan, Leonard, Ed.

341

Explaining Family Interactions.  

ERIC Educational Resources Information Center

A detailed review of current research and state-of-the-art ideas concerning both communication processes and family functioning is presented in this collection of articles. The volume is organized around three sections. Part 1, "The Development of Family Communication Patterns," contains: (1) "Communication in Infancy" (Marguerite Stevenson…

Fitzpatrick, Mary Anne, Ed.; Vangelisti, Anita L., Ed.

342

Family-Friendly Art  

ERIC Educational Resources Information Center

In the late 1980s, the Denver Art Museum initiated efforts to make the museum a destination for families. From 1997 to 2001, with a generous grant from The Pew Charitable Trusts, these efforts came to fruition. From the moment they walk through the doors, families' needs are anticipated. For example, they can pick up a welcoming brochure, Free…

Williams, Patterson; Garcia, Maria

2004-01-01

343

Changing Families, Changing Workplaces  

ERIC Educational Resources Information Center

American families and workplaces have both changed dramatically over the past half-century. Paid work by women has increased sharply, as has family instability. Education-related inequality in work hours and income has grown. These changes, says Suzanne Bianchi, pose differing work-life issues for parents at different points along the income…

Bianchi, Suzanne M.

2011-01-01

344

Family Communication and Delinquency.  

ERIC Educational Resources Information Center

Examined the relationship between communication and delinquency by comparing adolescents' self-reported delinquent behavior with their perceptions of family communication. Results indicate that communication is related to the commission of delinquent behavior. Differences arising from age, sex, and family marital status were also noted. (RJM)

Clark, Richard D.; Shields, Glenn

1997-01-01

345

One family's air pollution  

Microsoft Academic Search

The author's family pollutes directly or indirectly in five major ways: wastewater discharge; automobile exhaust; home heating oil furnace exhaust; trash disposal; and electricity usage (and the use of other consumer goods whose manufacture and transport caused some level of pollution). He decided to try to quantify how much his family contributed to pollution in one year, 1988. Four sources

Getz

1990-01-01

346

The Family Constellation Scale.  

ERIC Educational Resources Information Center

The Family Constellation Scale (FC Scale) is an instrument that assesses perceived birth order in families. It can be used in counseling to help initiate conversations about various traits and assumptions that tend to characterize first-born, middle-born children, youngest-born, and only children. It provides both counselors and clients insights…

Lemire, David

347

Oury Family Papers  

NSDL National Science Digital Library

The Oury Family was an Arizona pioneer family, prominent in territorial political and military affairs. Their number included William S. Oury, who served as the first mayor of Tucson in 1864. He later purchased the "Arizonian" newspaper in Tubac and moved it to Tucson. Other family members contributed to the spirit and culture of the Arizona territory during the late 19th century as well. This site provides interested parties with access to their family papers, which are part of the University of Arizona Libraries Special Collections. First-time visitors should check out the Finding Aid area, as it will help them get acclimated to the breadth of the materials. The documents include family correspondence, diaries, photographs, deeds, articles, and speeches related to the Ourys' involvement in Arizona territorial military experience. It's quite a collection and one that anyone with an interest in American history will find most edifying.

348

Farmers and family planning.  

PubMed

13 African nations have family planning policies, but the family planning efforts in rural or poorer communities have consistently been less effective. This article gives African farmers' views and concerns on birth control. Many of the rural mothers express concerns that they need to have many children because: they know they will lose some children to illness, they need the children's help cultivating the fields, it is prestigious to have many children, they want to be sure that there is someone to care for them in their old age. Examples of family case histories are provided along with the specific views of family planning by these parents. The family planning programs in Niger, Kenya, and Zimbabwe are described along with the pertinent statistics on population growth rates. PMID:12282757

Anza, S; Amakoye, S; Morna, C L; Pradervand, P

1989-12-01

349

[Strengthening family planning management].  

PubMed

Prior to 1984, enforcement of family planning policies in an undisclosed PLA military settlement in China's Jinan Military Region was totally inadequate. After notification from the central government, this military settlement immediately began enforcing family planning policies, resulting in sudden and full compliance with the central government's family planning policies. The system of scientific management of promoting and enforcing family planning, established by local administrators, is described. Management by objectives, clearly defined individual tasks and responsibilities, an full cooperation and support on the part of the authorities are some of the factors responsible for the effectiveness and success of the family planning efforts in this military settlement. A number of potential problem areas are identified scientific management techniques in dealing with uncooperative parties are emphasized. PMID:12159410

Hong, C; Shi, Z

1985-09-29

350

The relation between family adversity and social anxiety among adolescents in Taiwan: effects of family function and self-esteem.  

PubMed

This study aimed to examine the relationship between three indicators of family adversity (domestic violence, family substance use, and broken parental marriage) and the severity of social anxiety among adolescents in Taiwan, as well as the mediating effects of perceived family function and self-esteem on that relationship, using structural equation modeling (SEM). A total of 5607 adolescents completed the social anxiety subscale of the Multidimensional Anxiety Scale for Children; the Family APGAR Index; the Rosenberg Self-Esteem Scale; and a questionnaire for domestic violence, family substance use, and broken parental marriage. The relation between family adversity and social anxiety, as well as the mediating effects of family function and self-esteem, was examined using SEM. SEM analysis revealed that all three indicators of family adversity reduced the level of family function, that decreased family function compromised the level of self-esteem, and that a low level of self-esteem further increased the severity of social anxiety. The results indicated that, along with intervening to change family adversity, evaluating and improving adolescents' self-esteem and family function are also important clinical issues when helping adolescents reduce their social anxiety. PMID:24177484

Yen, Cheng-Fang; Yang, Pinchen; Wu, Yu-Yu; Cheng, Chung-Ping

2013-11-01

351

Stress in Latino Families Following an Adolescent's Childbearing: Effects on Family Relationships and Siblings  

PubMed Central

This study examined how increased stress in Latino families following an adolescent’s childbearing impacts family relationships and the adolescent’s siblings. Participants were 243 Mexican American youth (mean age: 13.7 years; 62% girls), or 121 youth who had a pregnant adolescent sister and 122 youth who had an adolescent sister who had never been pregnant. Youth and their mothers were studied at 4 time points across 15 months: The families of pregnant adolescents were studied when the adolescent sister was in her third trimester of pregnancy, and at 2 months, 6 months, and 12 months postpartum; the families of never-pregnant adolescents were studied at like intervals. Individual fixed-effects structural equation models were computed, which control for earlier measures of study constructs and thereby reduce omitted variable bias from preexisting family group differences. Results showed that an adolescent’s childbearing was related to increases in family stress, which were related to increases in mothers’ harsh parenting and mother–sibling conflict, which, in turn, were related to subsequent increases in siblings’ problem behavior. Multiple group analyses revealed that the pathways through which a teenager’s childbearing influences siblings operate similarly for girls and boys. Tests of an alternate ordering of model variables indicated a poor fit with the data. Findings provide evidence that the accumulation of stressful family changes following an adolescent’s childbearing can negatively impact siblings. Findings also elucidate how family-level stress and disruption experienced across a family transition trickle down to affect family relationships and, in turn, child family members.

East, Patricia L.; Chien, Nina C.

2013-01-01

352

First Year Evaluation Report: Family to Family Program.  

ERIC Educational Resources Information Center

The Family to Family program provides relief to families with emotionally impaired children through regular out-of-home respite care with host families. The overall goal of the program is to keep families with seriously emotionally impaired children intact, thus avoiding out-of-home placement. The program therefore involves, in addition to…

Ramey, Luellen; Meyer, David P.

353

Titan Casts Revealing Shadow  

NASA Astrophysics Data System (ADS)

A rare celestial event was captured by NASA's Chandra X-ray Observatory as Titan -- Saturn's largest moon and the only moon in the Solar System with a thick atmosphere -- crossed in front of the X-ray bright Crab Nebula. The X-ray shadow cast by Titan allowed astronomers to make the first X-ray measurement of the extent of its atmosphere. On January 5, 2003, Titan transited the Crab Nebula, the remnant of a supernova explosion that was observed to occur in the year 1054. Although Saturn and Titan pass within a few degrees of the Crab Nebula every 30 years, they rarely pass directly in front of it. "This may have been the first transit of the Crab Nebula by Titan since the birth of the Crab Nebula," said Koji Mori of Pennsylvania State University in University Park, and lead author on an Astrophysical Journal paper describing these results. "The next similar conjunction will take place in the year 2267, so this was truly a once in a lifetime event." Animation of Titan's Shadow on Crab Nebula Animation of Titan's Shadow on Crab Nebula Chandra's observation revealed that the diameter of the X-ray shadow cast by Titan was larger than the diameter of its solid surface. The difference in diameters gives a measurement of about 550 miles (880 kilometers) for the height of the X-ray absorbing region of Titan's atmosphere. The extent of the upper atmosphere is consistent with, or slightly (10-15%) larger, than that implied by Voyager I observations made at radio, infrared, and ultraviolet wavelengths in 1980. "Saturn was about 5% closer to the Sun in 2003, so increased solar heating of Titan may account for some of this atmospheric expansion," said Hiroshi Tsunemi of Osaka University in Japan, one of the coauthors on the paper. The X-ray brightness and extent of the Crab Nebula made it possible to study the tiny X-ray shadow cast by Titan during its transit. By using Chandra to precisely track Titan's position, astronomers were able to measure a shadow one arcsecond in diameter, which corresponds to the size of a dime as viewed from about two and a half miles. Illustration of Crab, Titan's Shadow and Chandra Illustration of Crab, Titan's Shadow and Chandra Unlike almost all of Chandra's images which are made by focusing X-ray emission from cosmic sources, Titan's X-ray shadow image was produced in a manner similar to a medical X-ray. That is, an X-ray source (the Crab Nebula) is used to make a shadow image (Titan and its atmosphere) that is recorded on film (Chandra's ACIS detector). Titan's atmosphere, which is about 95% nitrogen and 5% methane, has a pressure near the surface that is one and a half times the Earth's sea level pressure. Voyager I spacecraft measured the structure of Titan's atmosphere at heights below about 300 miles (500 kilometers), and above 600 miles (1000 kilometers). Until the Chandra observations, however, no measurements existed at heights in the range between 300 and 600 miles. Understanding the extent of Titan's atmosphere is important for the planners of the Cassini-Huygens mission. The Cassini-Huygens spacecraft will reach Saturn in July of this year to begin a four-year tour of Saturn, its rings and its moons. The tour will include close flybys of Titan that will take Cassini as close as 600 miles, and the launching of the Huygens probe that will land on Titan's surface. Chandra's X-ray Shadow of Titan Chandra's X-ray Shadow of Titan "If Titan's atmosphere has really expanded, the trajectory may have to be changed." said Tsunemi. The paper on these results has been accepted and is expected to appear in a June 2004 issue of The Astrophysical Journal. Other members of the research team were Haroyoski Katayama (Osaka University), David Burrows and Gordon Garmine (Penn State University), and Albert Metzger (JPL). Chandra observed Titan from 9:04 to 18:46 UT on January 5, 2003, using its Advanced CCD Imaging Spectrometer instrument. NASA's Marshall Space Flight Center, Huntsville, Ala., manages the Chandra program for the Office of Space Science, NASA Headquarters,

2004-05-01

354

Revealing the Beast Within  

NASA Astrophysics Data System (ADS)

Deeply Embedded Massive Stellar Clusters Discovered in Milky Way Powerhouse Summary Peering into a giant molecular cloud in the Milky Way galaxy - known as W49 - astronomers from the European Southern Observatory (ESO) have discovered a whole new population of very massive newborn stars . This research is being presented today at the International Astronomical Union's 25th General Assembly held in Sydney, Australia, by ESO-scientist Joăo Alves. With the help of infrared images obtained during a period of excellent observing conditions with the ESO 3.5-m New Technology Telescope (NTT) at the La Silla Observatory (Chile), the astronomers looked deep into this molecular cloud and discovered four massive stellar clusters, with hot and energetic stars as massive as 120 solar masses. The exceedingly strong radiation from the stars in the largest of these clusters is "powering" a 20 light-year diameter region of mostly ionized hydrogen gas (a "giant HII region"). W49 is one of the most energetic regions of star formation in the Milky Way. With the present discovery, the true sources of the enormous energy have now been revealed for the first time, finally bringing to an end some decades of astronomical speculations and hypotheses. PR Photo 21a/03 : Colour Composite of W49A (NTT+SOFI). PR Photo 21b/03 : Radio and Near-Infrared Composite of W49A Giant molecular clouds Stars form predominantly inside Giant Molecular Clouds which populate our Galaxy, the Milky Way. One of the most prominent of these is W49 , which has a mass of a million solar masses. It is located some 37,000 light-years away and is the most luminous star-forming region known in our home galaxy: its luminosity is several million times the luminosity of our Sun. A smaller region within this cloud is denoted W49A - this is one of the strongest radio-emitting areas known in the Galaxy . Massive stars are excessive in all ways. Compared to their smaller and ligther brethren, they form at an Olympic speed and have a frantic and relatively short life. Formation sites of massive stars are quite rare and, accordingly, most are many thousands of light-years away. For that reason alone, it is in general much more difficult to observe details of massive-star formation. Moreover, as massive stars are generally formed in the main plane of the Galaxy, in the disc where a lot of dust is present, the first stages of such stars are normally hidden behind very thick curtains. In the case of W49A , less than one millionth of the visible light emitted by a star in this region will find its way through the heavy intervening layers of galactic dust and reach the telescopes on Earth. And finally, because massive stars just formed are still very deeply embedded in their natal clouds, they are anyway not detectable at optical wavelengths. Observations of this early phase of the lives of heavy stars must therefore be done at longer wavelengths (where the dust is more transparent), but even so, such natal dusty clouds still absorb a large proportion of the light emitted by the young stars. Infrared observations of W49 ESO PR Photo 21a/03 ESO PR Photo 21a/03 [Preview - JPEG: 464 x 400 pix - 88k [Normal - JPEG: 928 x 800 pix - 972k] ESO PR Photo 21b/03 ESO PR Photo 21b/03 [Preview - JPEG: 400 x 461 pix - 104k [Normal - JPEG: 800 x 922 pix - 1.1M] Captions : PR Photo 21a/03 presents a composite near-infrared colour image from NTT/SofI. It covers a sky area of 5 x 5 arcmin 2 and the red, green and blue colours correspond to the Ks- (wavelength 2.2 µm), H- (1.65 µm) and J-band (1.2 µm), respectively. North is up and East is to the left. The labels identify known radio sources. The main cluster is seen north-east of the region labelled "O3". The colour of a star in this image is mostly a measure of the amount of dust absorption towards this star. Hence, all blue stars in this image are located in front of the star-forming region. PR Photo 21b/03 shows a three-colour composite of the central region of the star-forming region W49A , based on a radio emission map (w

2003-07-01

355

Metabolic regulation by p53 family members.  

PubMed

The function of p53 is best understood in response to genotoxic stress, but increasing evidence suggests that p53 also plays a key role in the regulation of metabolic homeostasis. p53 and its family members directly influence various metabolic pathways, enabling cells to respond to metabolic stress. These functions are likely to be important for restraining the development of cancer but could also have a profound effect on the development of metabolic diseases, including diabetes. A better understanding of the metabolic functions of p53 family members may aid in the identification of therapeutic targets and reveal novel uses for p53-modulating drugs. PMID:23954639

Berkers, Celia R; Maddocks, Oliver D K; Cheung, Eric C; Mor, Inbal; Vousden, Karen H

2013-11-01

356

Family planning education.  

PubMed

17 days were spent devoted to the effort of learning about China's educational approach to family planning in the hope of discovering how they are achieving their remarkable success in reducing population growth. As a member of the 1981 New York University/SIECUS Colloquim in China, it was necessary to rely on the translation provided by the excellent guides. Discussions were focused on questions prepared in advance about the topics that concerned the group. These observations, based on a short and limited exposure, cover the following areas: marriage and family planning policies; the family planning program; school programs; adult education; family planning workers; and unique aspects of the program. China has an official position on marriage and family planning that continues to undergo revisions. The new marriage law sets the minimum ages of marriage at 22 for men and 20 for women. Almost everyone marries, and an unmarried person over age 28 is a rarity. The family planning program in China is carried out by an extensive organizational network at national, provincial, and local government levels. Officials termed it a "propaganda campaign." Hospitals, clinics, and factories invariably displayed posters; a popular set of four presents the advantages of the 1 child family as follows: late marriage is best, for it allows more time to work and study; 1 child is best for the health of the mother; one gets free medical care for his/her child if a family has only 1 child; and there is more time to teach 1 child. The state operated television regularly explains the 1 child policy utilizing special films. According to 1 family planning official, "before marriage there is little sex." There are few abortions for unmarried women. Education about sex is for adults, for those persons who are about to be married. There is little if any sex education in schools. Sexual teaching is not generally acceptable, especially in the rural areas. By contrast, in Shanghai the physiology teaching in the middle school does include sex education and reproduction. Sex information for adults is offered at the time of marriage. Married or about to be married adults are the major target of the state's family planning education effort. The key educators are an extensive network of family planning workers. All hospitals have a family planning office, and there are also family planning workers in the factories. What is unique about the Chinese approach is its use of reward and punishment. PMID:6550674

Hamburg, M V

1983-02-01

357

Cytomorphology of familial hemophagocytic syndrome.  

PubMed

Familial hemophagocytic syndrome (FHS) is a rare, fatal disorder of childhood demonstrating failure to thrive, fever, hepatosplenomegaly (HSM), recurrent infections, pancytopenia, and histologically, the infiltration of reticuloendothelial organs by benign-appearing histiocytes demonstrating hemophagocytosis. We report two fatal cases of FHS including a 3 year-old female who underwent fine-needle aspiration (FNA) biopsy of the liver in the initial workup of the disease (case 1) and an 8 month-old boy with ascites and HSM having peritoneal fluid cytology submitted as the first specimen for morphologic examination (case 2). In case 1, the FNA cytologic findings included benign hepatocytes and scattered mature and reactive lymphocytes and histiocytes. The histiocytes demonstrated fine to coarse cytoplasmic vacuoles and erythrophagocytosis. The diagnosis was confirmed at autopsy which revealed extensive lymphohistiocytic infiltrates in various organs including the central nervous system. In case 2, the peritoneal fluid cytology specimen contained numerous atypical and degenerating mononuclear lymphoreticular cells which were dispersed as a single cell suspension admixed with infrequent mesothelial elements; hemophagocytosis was not appreciated. Subsequent liver biopsy revealed portal tracts and sinusoids infiltrated by benign but atypical histiocytes with hemophagocytosis. Bone marrow examination and then autopsy confirmed the diagnosis of FHS. A panel of immunocytochemical studies was performed in the first case which was an aid in confirming the diagnosis of FHS and ultrastructural examination of the second case revealed well-developed erythrophagocytosis. Both patients had siblings who died of FHS. Although not diagnostic, cytomorphology may suggest FHS. PMID:8261845

Silverman, J F; Singh, H K; Joshi, V V; Holbrook, C T; Chauvenet, A R; Harris, L S; Geisinger, K R

1993-08-01

358

Familial ovarian cancer.  

PubMed

Familial ovarian cancer occurs in approximately 5% of all ovarian cancers. Since the relation between ovarian cancer and genetic heritage has drawn much attention lately, general gynaecologists will more and more be faced with the question how to survey patients from a family with the familial ovarian cancer syndrome. We describe a patient from a family with three daughters, of which two older sisters were known to have ovarian cancer. Although our patient was closely observed, a third-stage ovarian cancer developed. With this case in mind and after a review of the literature, we will in future closely survey patients from familial ovarian cancer families from their twentieth birthday on, and recommend prophylactic bilateral oophorectomy after child-bearing age. However, we are aware of the fact that it is impossible to diagnose ovarian cancer in a premalignant phase as yet, and the benefit of a close survey might be an earlier diagnosis and not prevention. Also, prophylactic oophorectomy does not prevent the occurrence of intra-abdominal malignancies histopathologically indistinguishable from ovarian cancer. Patients should be aware of these restrictions. If, in the future, the precise chromosomal defect in ovarian cancer families is localized, prevention of ovarian cancer, but not of intra-abdominal malignancies of the same histopathology, might be within reach. PMID:1294418

van Eijkeren, M A; de Graaff, J; van Etten, F H

1992-12-28

359

Family allowance and family planning in Chile.  

PubMed Central

Family allowances designed to promote maternal and child health and welfare could be self-defeating if they stimulated otherwise unwanted births, as often assumed. That assumption, with its public health and demographic implications, needs testing. An attempt to test it was made in Chile in 1969--1970 through interviews with 945 wives receiving an allowance and 690 non-recipients. Recipients practiced contraception significantly more than did non-recipients. This was not explained by wives' educational attainment or employment, the couples' earnings, or number of living children, but was associated with a 50 per cent greater utilization of professional prenatal care by recipients during the most recent pregnancy; women with such care (regardless of allowance status) were 75 per cent more likely than others to control their fertility. Prenatal care was probably sought more by recipients in part because an additional stipend was provided as soon as pregnancy was confirmed, usually at clinics with integrated family planning. Greater family income, attributable to the allowance, probably also contributed to the recipients' better prenatal attention and to contraceptive practice. Noteworthy, too, was the finding that with the number of living children controlled, contraceptive practice was significantly greater amoung couples who had never lost a child.

Plank, S J

1978-01-01

360

Family History Assessment  

PubMed Central

Background Family Healthware™, a tool developed by the CDC, is a self-administered web-based family history tool that assesses familial risk for six diseases (coronary heart disease, stroke, diabetes, and colon, breast and ovarian cancers) and provides personalized prevention messages based on risk. The Family Healthware Impact Trial (FHITr) set out to examine the clinical utility of presenting personalized preventive messages tailored to family history risk for improving health behaviors. Purpose The purpose of this study was to examine the impact of Family Healthware on modifying disease risk perceptions, particularly among those who initially underestimated their risk for certain diseases. Design A total of 3786 patients were enrolled in a cluster-randomized trial to evaluate the clinical utility of Family Healthware. Setting/participants Participants were recruited from 41 primary care practices among 13 states between 2005 and 2007. Main outcome measures Perceived risk for each disease was assessed at baseline and 6-month follow-up using a single-item comparative risk question. Analyses were completed in March 2012. Results Compared to controls, Family Healthware increased risk perceptions among those who underestimated their risk for heart disease (15% vs 9%, p<0.005); stroke (11% vs 8%, p<0.05); diabetes (18% vs 11%, p<0.05); and colon cancer (17% vs 10%, p=0.05); but not breast or ovarian cancers. The majority of underestimators did not shift in their disease risk perceptions. Conclusions Family Healthware was effective at increasing disease risk perceptions, particularly for metabolic conditions, among those who underestimated their risk. Results from this study also demonstrate the relatively resistant nature of risk perceptions. Trial registration This study is registered at clinicaltrials.gov NCT00164658.

Wang, Catharine; Sen, Ananda; Ruffin, Mack T.; Nease, Donald E.; Gramling, Robert; Acheson, Louise S.; O'Neill, Suzanne M.; Rubinstein, Wendy S.

2012-01-01

361

75 FR 9247 - Single Family Mortgage Insurance Premium, Single Family  

Federal Register 2010, 2011, 2012, 2013

...DEVELOPMENT [Docket No. FR-5376-N-13] Single Family Mortgage Insurance Premium, Single Family AGENCY: Office of the Chief Information Officer...the subject proposal. Lenders use the Single Family Premium Collection Subsystem-Upfront...

2010-03-01

362

Ten Adaptive Strategies for Family and Work Balance: Advice from Successful Families.  

ERIC Educational Resources Information Center

Investigated adaptive strategies of middle class, dual earner couples (N=47) with children that are successfully managing family and work. Guided by grounded-theory methodology, analysis of interview data revealed these successful couples structured their lives around 10 major strategies. Each strategy is defined and illustrated through the…

Haddock, Shelley A.; Zimmerman, Toni Schindler; Ziemba, Scott J.; Current, Lisa R.

2001-01-01

363

Population- and Family-Based Studies Associate the "MTHFR" Gene with Idiopathic Autism in Simplex Families  

ERIC Educational Resources Information Center

Two methylenetetrahydrofolate reductase gene ("MTHFR") functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case-control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the…

Liu, Xudong; Solehdin, Fatima; Cohen, Ira L.; Gonzalez, Maripaz G.; Jenkins, Edmund C.; Lewis, M. E. Suzanne; Holden, Jeanette J. A.

2011-01-01

364

"We're Just that Sort of Family": Intergenerational Relationships in Families Including Children with Disabilities.  

ERIC Educational Resources Information Center

Explores factors and characteristics related to the extent to which support is a component of parent-grandparent relationships in families of children with disabilities. Results, based on in-depth interviews of 12 parent-grandparent pairs, revealed that the presence and/or type of disability were unrelated to availability of grandparent support.…

Mirfin-Veitch, Brigit; Bray, Anne; Watson, Marilyn

1997-01-01

365

[Familial seroepidemiology of toxocariasis].  

PubMed

With the objective of defining the intrafamiliar distribution pattern of the infection and illness caused by Toxocara sp., 78 infected families (356 people) were studied for 30 months. At the same time 28 families free of infection were studied, as a control group (97 people). The socioeconomic level was analyzed according to a modified Graffar index. Contac with canine and feline pets, and antecedents of geophagia and onichophagia were found to be risk factors which would facilitate the infection. The average of persons infected, diagnosed by ELISA Toxocara test, was 2.8 per family. The importance of familiar distribution of the infection and its primary prevention is strongly stressed. PMID:7654285

Noemi, I; Rugiero, E; Viovy, A; Cortés, P P; Cerva, J L; González, M; Back, S; Gottlieb, B; Herrera, M E; Cordovez, J

1994-01-01

366

Predictors of Family Structure  

NSDL National Science Digital Library

This activity is used in an sociology class class for undergraduate students. This activity explores topics of households/families, income and race to understand how family structure and demographic information predict trends in family structure. This activity uses a customized data set made from combining census information from 1950-1990 and guides students through data manipulation using WebCHIP software found at DataCounts!. To open WebCHIP with the dataset for the activity, please see instructions and links in the exercise documents under teaching materials. For more information on how to use WebCHIP, see the How To section on DataCounts!

Atkinson, Maxine

367

Orbifold family unification  

SciTech Connect

We study the possibility of complete family unification in higher-dimensional space-time. Three families of matters in SU(5) grand unified theory are derived from a single bulk multiplet of the SU(N) gauge group (N{>=}9) in the framework of S{sup 1}/Z{sub 2} orbifold models. In the case of the direct orbifold breaking down to the standard model gauge group, there are models in which bulk fields from a single multiplet and a few brane fields compose three families of quarks and leptons.

Kawamura, Yoshiharu; Kinami, Teppei [Department of Physics, Shinshu University, Matsumoto 390-8621 (Japan); Oda, Kin-ya [Theoretical Physics Laboratory, RIKEN, Saitama 351-0198 (Japan)

2007-08-01

368

Furstenberg family and chaos  

Microsoft Academic Search

A Furstenberg family \\u000a $$\\\\mathcal{F}$$\\u000a is a family, consisting of some subsets of the set of positive integers, which is hereditary upwards, i.e. A ? B and A ? \\u000a $$\\\\mathcal{F}$$\\u000a imply B ? \\u000a $$\\\\mathcal{F}$$\\u000a . For a given system (i.e., a pair of a complete metric space and a continuous self-map of the space) and for a Furstenberg\\u000a family \\u000a $$\\\\mathcal{F}$$\\u000a ,

Jin-Cheng Xiong; Jie Lü; Feng Tan

2007-01-01

369

Distribution of Candida albicans genotypes among family members  

NASA Technical Reports Server (NTRS)

Thirty-three families (71 subjects) were screened for the presence of Candida albicans in mouthwash or stool specimens; 12 families (28 subjects) were culture-positive for this yeast. An enrichment procedure provided a twofold increase in the recovery of C. albicans from mouthwash specimens. Nine of the twelve culture-positive families had two positive members each, two families had three positive members each, and one family had four positive members. Genetic profiles were obtained by three methods: pulsed-field gel electrophoresis; restriction endonuclease analysis, and random amplification of polymorphic DNA analysis. DNA fingerprinting of C. albicans isolated from one body site three consecutive times revealed that each of the 12 families carried a distinct genotype. No two families shared the same strain, and two or more members of a family commonly shared the same strain. Intrafamily genotypic identity (i.e., each member within the family harbored the same strain) was demonstrated in six families. Genotypes of isolates from husband and wife differed from one another in five families. All three methods were satisfactory in determining genotypes; however, we concluded that restriction endonuclease analysis provided adequate resolving power.

Mehta, S. K.; Stevens, D. A.; Mishra, S. K.; Feroze, F.; Pierson, D. L.

1999-01-01

370

Protein families and TRIBES in genome sequence space.  

PubMed

Accurate detection of protein families allows assignment of protein function and the analysis of functional diversity in complete genomes. Recently, we presented a novel algorithm called TribeMCL for the detection of protein families that is both accurate and efficient. This method allows family analysis to be carried out on a very large scale. Using TribeMCL, we have generated a resource called TRIBES that contains protein family information, comprising annotations, protein sequence alignments and phylogenetic distributions describing 311 257 proteins from 83 completely sequenced genomes. The analysis of at least 60 934 detected protein families reveals that, with the essential families excluded, paralogy levels are similar between prokaryotes, irrespective of genome size. The number of essential families is estimated to be between 366 and 426. We also show that the currently known space of protein families is scale free and discuss the implications of this distribution. In addition, we show that smaller families are often formed by shorter proteins and discuss the reasons for this intriguing pattern. Finally, we analyse the functional diversity of protein families in entire genome sequences. The TRIBES protein family resource is accessible at http://www.ebi.ac.uk/research/cgg/tribes/. PMID:12888524

Enright, Anton J; Kunin, Victor; Ouzounis, Christos A

2003-08-01

371

Family Decision Making  

MedlinePLUS

... CDC.gov . Hearing Loss in Children National Center Homepage Hearing Loss Share Compartir Family Decision Making How can I start communicating with my baby right now? Learn more here Each child ...

372

My Fact Family  

NSDL National Science Digital Library

Students will use cut out people shapes and number cards to create two addition problems and two subtraction problems using the same three numbers of a fact family to explore the commutative property.

Gehron, Elizabeth

2012-08-15

373

School and Family Life  

MedlinePLUS

... advice now and then. Get the lowdown on parenting basics like discipline, homework help, and how to ... Families Can Help Nine Steps to More Effective Parenting Parenting Multiples Play & Learn Center Preparing Your Child ...

374

Family Disruption and Delinquency.  

National Technical Information Service (NTIS)

Despite a multitude of happy exceptions, it is a sad truth that children in families disrupted by divorce or separation have a greater chance of exhibiting problem behavior, including delinquency, than children being raised by two parents. This Bulletin e...

T. P. Thornberry C. A. Smith C. Rivera D. Huizinga M. Stouthamer-Loeber

1999-01-01

375

Family Impact Analysis.  

National Technical Information Service (NTIS)

This collection of papers was prepared for policy analysts who are involved in the study and formulation of legislation, programs, and administrative rules and procedures that may impact the quality of family life. They reflect the growing concern about t...

P. Mattessich

1977-01-01

376

Family Autonomy Project.  

National Technical Information Service (NTIS)

The goal of the project was to ensure the successful transition to adulthood of adolescents with physical disabilities or chronic illnesses by means of interventions with families, the health care team, and the adolescents themselves. The project sough to...

S. L. Hostler

1993-01-01

377

Family Traits and Traditions  

NSDL National Science Digital Library

In this activity, learners play a matching game with their families to discover common inherited traits and traditions. Learners distinguish between inherited traits and learned traditions. This genetics activity is available in English and Spanish.

Utah, University O.

2006-01-01

378

The Family Map: Structured Family Interview to Identify Risks and Strengths in Head Start Families  

Microsoft Academic Search

The Family Map is a semistructured interview developed to assess important aspects of the family and home environment associated with well-being in 3- to 5-year old children. The measure is designed so that it can be used during home visits with Head Start families. Accordingly, it was developed in collaboration with Head Start providers and families. The Family Map systematically

Leanne Whiteside-Mansell; Robert Bradley; Nicola Conners; Patti Bokony

2007-01-01

379

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

ERIC Educational Resources Information Center

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…

Hsiao, C-Y.

2014-01-01

380

75 FR 63753 - Family Offices  

Federal Register 2010, 2011, 2012, 2013

...the Financial Elite (2010) (``The Family Office''). \\3\\ See Pamela...Planning (Apr. 27, 2010). A single family office generally provides services...News Service (Jul. 16, 2010) (``family office recruiters don't...

2010-10-18

381

Welfare Policies and Black Families.  

ERIC Educational Resources Information Center

The family is an important resource for minority persons, and many minority families depend on public welfare for their survival. This article offers a compact analysis of how welfare policies often work to the disadvantage of poor Black families. (Author)

Trader, Harriet Peat

1979-01-01

382

The Burden of Families Coping with the Mentally Ill: An Invisible Crisis.  

ERIC Educational Resources Information Center

Examined the costs families bear after assuming their recently acquired responsibilities for mentally ill relatives. A random sample of 125 families who had one posthospital member at home revealed relatives paying a high price. The impact on the family was separated into two types of burden: objective and subjective. (Author/RC)

Thompson, Edward H., Jr.; Doll, William

1982-01-01

383

The Effects of Attitudes toward Family Life and Gender Roles on Marital Satisfaction.  

ERIC Educational Resources Information Center

Examined relationship between gender role and family attitudes of husbands and wives and five indicators of marital satisfaction. Data from 1987-88 National Survey of Families and Households revealed that spouses who held nontraditional attitudes toward family life were less satisfied with their marriages, as were men and women whose attitudes…

Lye, Diane N.; Biblarz, Timothy J.

1993-01-01

384

Family Functioning and the Development of Trust and Intimacy among Adolescents in Residential Treatment  

ERIC Educational Resources Information Center

This study examined relations between family cohesion and adaptability (as measured by the Family Adaptability and Cohesion Scales-III) and the formation of trust and intimacy (assessed with the Measure of Psychosocial Development) among adolescents in residential treatment. Bivariate correlation revealed a significant association between family

Coll, Kenneth M.; Powell, Stephanie; Thobro, Patti; Haas, Robin

2010-01-01

385

When Academics Become Parents: An Overview of Family Leave Policies at Canadian Universities.  

ERIC Educational Resources Information Center

Reviews family leave policies in Canadian universities through March 2002. Analysis of pregnancy, adoption, and partner (paternity) leave policies reveal that most Canadian university policies produce income loss and disruption and are characterized by gender regulation and familialism. The paper proposes that improving faculty family leave…

Prentice, Susan; Pankratz, Curtis J.

2003-01-01

386

When simple technology affords social presence: a case study for remote family members  

Microsoft Academic Search

This work explores how simple technologies are being adopted in family life as support for remote family members' interaction. We analyze the feeling of being closer to their remote relatives when using different types of interaction, based on users' report that live in countries geographically far from their families. The users' declarations reveal some benefits from those technologies. Our main

Antonia Lucinelma; Pessoa Albuquerque; Andrew Perkis

2008-01-01

387

Support Services for Victims of Political Violence and Their Families: A Comparison between Israelis and Palestinians  

ERIC Educational Resources Information Center

This report summarizes interviews with five social workers who helped families that experienced political violence, and with 16 families that lost a family member due to terrorist activity in Israel and Palestine from 2000 to 2005. Results revealed a great disparity between the Israelis and the Palestinians on the types of and extent of benefits…

Abbott, Douglas A.

2010-01-01

388

Diverse Family Types and Out-of-School Learning Time of Young School-Age Children  

ERIC Educational Resources Information Center

Sources of differentials in out-of-school learning time between children in first marriage biological parent families and children in six nontraditional family types are identified. Analyses of time diaries reveal that children in four of the six nontraditional family types spend fewer minutes learning than do children in first marriage biological…

Ono, Hiromi; Sanders, James

2010-01-01

389

[Family violence and generations].  

PubMed

Starting with a description of the place and function of violence inside families, the author raises than the topics of the professional's ethic and responsibility when working with family violence. It is not always easy for professionals to evaluate responsibilities particularly when they try to take into account as many contextual factors as possible. They could worry to become too Manichean and to see themselves as following only a linear causality. PMID:21089424

Goldbeter-Merinfeld, E

2010-09-01

390

Familial multiple lipomatosis.  

PubMed

A clinical study was made of 14 cases of multiple symmetrical lipomata in two families. There were 7 female and 7 male patients. In one family the members affected were observed in four generations. The disease set in during the third or fourth decade of life. The lipomata ranged in size from that of a pea to that of a hen's egg. They were limited to the forearms and trunk were asymptomatic. PMID:71835

Rabbiosi, G; Borroni, G; Scuderi, N

1977-01-01

391

Mannan synthase activity in the CSLD family  

PubMed Central

Cellulose Synthase Like (CSL) proteins are a group of plant glycosyltransferases that are predicted to synthesize ?-1,4-linked polysaccharide backbones. CSLC, CSLF and CSLH families have been confirmed to synthesize xyloglucan and mixed linkage ?-glucan, while CSLA family proteins have been shown to synthesize mannans. The polysaccharide products of the five remaining CSL families have not been determined. Five CSLD genes have been identified in Arabidopsis thaliana and a role in cell wall biosynthesis has been demonstrated by reverse genetics. We have extended past research by producing a series of double and triple Arabidopsis mutants and gathered evidence that CSLD2, CSLD3 and CSLD5 are involved in mannan synthesis and that their products are necessary for the transition between early developmental stages in Arabidopsis. Moreover, our data revealed a complex interaction between the three glycosyltransferases and brought new evidence regarding the formation of non-cellulosic polysaccharides through multimeric complexes.

Verhertbruggen, Yves; Yin, Lan; Oikawa, Ai

2011-01-01

392

The family dynamics of intellectual development.  

PubMed

Birth order effects on intellectual performance show both positive and negative results. The confluence model reconciles these conflicting data by proving that these effects interact with the age of participants at testing, such that young children should show negative or no effects, whereas older individuals (past age 11 +/- 2 years) should show positive effects. Birth order studies strongly support this prediction. Some writers have claimed the apparent relation between birth order and intelligence is an artifact created by applying a cross-sectional analysis to data that should have been analyzed by comparing siblings within families. However, if siblings within the same family are compared all at the same time, their ages are necessarily different. As a result, birth order effects are confounded with age effects. Moreover, within-family data conceal patterns of aggregate effects that cross-sectional data reveal. PMID:11413872

Zajonc, R B

2001-01-01

393

The Peale Family Papers  

NSDL National Science Digital Library

Housed at the Smithsonian Institution's National Portrait Gallery, The Charles Willson Peale Family Papers is a boon to researchers in the history and culture of America from the 1730s to the 1880s. Comprised of copies of more than 6,000 documents, spanning three generations of the Peale family, "the archive traces the family's history from the arrival of Charles Peale, a transported felon, through the career of Charles Willson Peale -- artist, Revolutionary soldier, naturalist and museum keeper, and Enlightenment polymath -- down through the nineteenth-century careers and lives of his many children." Unfortunately, the papers themselves are not accessible online, but the site features essays discussing the papers, the history of the Peale family, and the editorial philosophy behind the publication of the first four volumes of the Peale Family Papers. (The entire collection is currently available in microfiche, and bibliographic information about this resource and the print publications of the papers are provided on-site.) The Website also features a photo gallery of paintings either by or of Peale family members.

394

A qualitative study on adolescence, health and family  

PubMed Central

Family is important to both health and adolescence. Adolescence is a time of peak health, but there are some important family based risk factors. The aim of this study was to explore the perspective of adolescent Iranians on issues of family and their health. We used descriptive, qualitative methodology and purposeful sampling and interviews for collecting the data. Forty?one participants explained their perspectives on health and family. Data were analysed using qualitative content analysis. Analysis revealed three categories of risk factors: a widening generation gap, effective parenting and family financial situation. To have healthy adolescents, both children and parents need more knowledge and better skills about adolescent health and development and about social trends. To understand adolescents in a more realistic way, parents should develop healthy communication to avoid family health problems.

2009-01-01

395

A family with diabetes and heart failure  

Microsoft Academic Search

The case of a middle-aged woman with early-onset diabetes mellitus, hypertrophic cardiomyopathy, premature sensorineural hearing loss and neuropsychiatric symptoms is described. The patient's family history revealed the classical pattern of maternally inherited diabetes and deafness (MIDD) and isolation of mitochondrial DNA from peripheral blood leucocytes showed an A3243G transition in the gene encoding for the tRNALeu(UUR). Thus, the suspected diagnosis

Bernhard Gerber; Christine Manser; Peter Wiesli; Christoph A Meier

2010-01-01

396

Cardiomyopathy, familial dilated  

PubMed Central

Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. DCM has a prevalence of one case out of 2500 individuals with an incidence of 7/100,000/year (but may be under diagnosed). In many cases the disease is inherited and is termed familial DCM (FDC). FDC may account for 20–48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Family history analysis is an important tool for identifying families affected by FDC. Standard criteria for evaluating FDC families have been published and the use of such criteria is increasing. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. This presents an opportunity to invoke lifestyle changes and to provide pharmacological therapy earlier in the course of disease. Genetic counseling is used to identify additional asymptomatic family members who are at risk of developing symptoms, allowing for regular screening of these individuals. The management of FDC focuses on limiting the progression of heart failure and controlling arrhythmia, and is based on currently accepted treatment guidelines for DCM. It includes general measures (salt and fluid restriction, treatment of hypertension, limitation of alcohol intake, control of body weight, moderate exercise) and pharmacotherapy. Cardiac resynchronization, implantable cardioverter defibrillators and left ventricular assist devices have progressively expanding usage. Patients with severe heart failure, severe reduction of the functional capacity and depressed left ventricular ejection fraction have a low survival rate and may require heart transplant.

Taylor, Matthew RG; Carniel, Elisa; Mestroni, Luisa

2006-01-01

397

Familial neuromyelitis optica  

PubMed Central

Background: Detection of aquaporin-4–specific immunoglobulin G (IgG) has expanded the spectrum of neuromyelitis optica (NMO). Rare reports of familial aggregation have suggested a component of genetic susceptibility but these reports mostly antedated the discovery of the NMO-IgG biomarker and recently updated diagnostic criteria. Methods: We report a case series describing the demographic, clinical, neuroimaging, and NMO-IgG serologic status of 12 multiplex NMO pedigrees with a total of 25 affected individuals. Results: Twenty-one patients (84%) were women. Families were Asian (n = 5), Latino (n = 4), white (n = 1), or African (n = 2). Apparent transmission was either maternal (n = 5) or paternal (n = 2). In 1 family, 3 individuals had NMO; in the others, 2 individuals were affected. Sibling pairs (n = 6), parent-child (n = 4), and aunt-niece (n = 3) pairs were observed. Nineteen patients (76%) were NMO-IgG positive. Twelve (48%) had clinical or serologic evidence of another autoimmune disease. Familial occurrence of NMO occurs in approximately 3% of patients with well-established diagnosis of NMO. Conclusions: A small proportion of patients with NMO have relatives with this condition, but familial occurrence is more common than would be expected from its frequency in the general population. Familial NMO is indistinguishable from sporadic NMO based on clinical symptoms, age at onset, sex distribution, and frequency of NMO-IgG detection. One or 2 generations were affected and affected individuals represented a small fraction of family members. Taken together, these data suggest complex genetic susceptibility in NMO. GLOSSARY AQP4 = aquaporin-4; CI = confidence interval; HLA = human leukocyte antigen; IgG = immunoglobulin G; LETM = longitudinally extensive transverse myelitis; MS = multiple sclerosis; NMO = neuromyelitis optica; ON = optic neuritis; OR = odds ratio.

Matiello, M.; Kim, H.J.; Kim, W.; Brum, D.G.; Barreira, A.A.; Kingsbury, D.J.; Plant, G.T.; Adoni, T.; Weinshenker, B.G.

2010-01-01

398

Family ownership and firm performance: Influence of family management, family control, and firm size  

Microsoft Academic Search

This study examines the relationship between family ownership and firm performance by considering the influence of family\\u000a management, family control, and firm size. Using proxy data of 786 public family firms in Taiwan during 2002–2007, this study\\u000a found that family ownership is positively associated with firm performance. The positive association is strong particularly\\u000a when family members serve as CEOs, top

Wenyi Chu

2011-01-01

399

Family Support and Resources in Families Having Children with Disabilities.  

ERIC Educational Resources Information Center

This report discusses the outcomes of a study designed to assess two measures of family functioning for families with children with disabilities: the Family Support Scale (FSS) and the Family Resource Scale (FRS). The FSS is an 18-item questionnaire that measures the amount of perceived support given to the parents of young children with…

Taylor, Matthew J.

400

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

ERIC Educational Resources Information Center

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 Health--A…

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

1998-01-01

401

Fostering Families' and Children's Rights to Family Connections  

ERIC Educational Resources Information Center

Recent federal legislation strengthens children's and families' rights to family-centered practice by increasing the responsibility of child welfare agencies to identify and engage extended family members in providing care and support to children placed out of the home. Preliminary results from an experimental study of a federally funded family

Landsman, Miriam J.; Boel-Studt, Shamra

2011-01-01

402

Mervyn's Family-to-Family Initiative in Oregon.  

ERIC Educational Resources Information Center

Family-to-Family, a collaboration between community colleges, public agencies, and businesses that is funded by Mervyn's department stores, is a two-year effort to enhance the quality of family child care in Oregon. Its goals are to train at least 450 family child care providers, help at least 60 providers achieve national accreditation, and…

Campbell, Lori; And Others

403

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

ERIC Educational Resources Information Center

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…

Fraker, Carolyn A.; Greenberg, David

2011-01-01

404

Family Theme Group: Networking Skills, the Family and Beyond.  

ERIC Educational Resources Information Center

This paper describes the family-theme group, a group approach to working with schizophrenics based on the assumptions that: (1) family dynamics are important variables in the development and maintenance of schizophrenia; (2) schizophrenic families have numerous maladaptive qualities not present in normal families; and (3) hospitalization of…

Reynolds, John N.; And Others

405

Family paradigm theory and family rituals: implications for child and family health.  

PubMed

Family paradigm theory explains variations in families that are based on their shared beliefs about the social world and their family's place within it. Key concepts of the theory and some of the supporting research are presented. Family rituals provide a window for viewing the family's efforts to maintain this shared concept of family identity. Suggestions for evaluating ritual use in families during times of stress and/or transition are provided. Ritual evaluation may give clues to difficulties families face in maintaining a shared identity during challenging periods of change or conflict. PMID:2006039

Campbell, D W

1991-02-01

406

Expressed and perceived criticism, family warmth, and symptoms in schizophrenia.  

PubMed

Criticism directed by caregivers towards a family member with schizophrenia, both from the perspective of the patient and of the caregiver, predicts relapse, although both perspectives differ. This study aims to verify if the same applies to a Mediterranean sample, where criticism is not the main attitude of high expressed emotion families. The Camberwell Family Interview was applied to assess the family's perspective, and the Perceived Criticism and the Family Emotional Involvement and Criticism Scales were used to assess the patients' perspective, in 21 dyads. The association between both perspectives and psychotic symptoms was also examined. Results replicated those of previous studies in other countries, revealing that the perspectives on Criticism of patients and families do not match. The fact that family members also presented positive attitudes towards the patient did not cushion the patient's perceived criticism. Thus, it seems that families considered to be critical may not be perceived as such by the patients. Furthermore, only the warmth from the family's perspective correlated with the symptoms: positive affect proved to be more relevant than negative affect. Therefore, the patients' subjective assessments and family warmth should be included in clinical and research proposals. PMID:23866241

Medina-Pradas, Cristina; Navarro, J Blas; Pousa, Esther; Montero, M Isabel; Obiols, Jordi E

2013-01-01

407

Chitinase family GH18: evolutionary insights from the genomic history of a diverse protein family  

PubMed Central

Background Chitinases (EC.3.2.1.14) hydrolyze the ?-1,4-linkages in chitin, an abundant N-acetyl-?-D-glucosamine polysaccharide that is a structural component of protective biological matrices such as insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 (GH18) family of chitinases is an ancient gene family widely expressed in archea, prokaryotes and eukaryotes. Mammals are not known to synthesize chitin or metabolize it as a nutrient, yet the human genome encodes eight GH18 family members. Some GH18 proteins lack an essential catalytic glutamic acid and are likely to act as lectins rather than as enzymes. This study used comparative genomic analysis to address the evolutionary history of the GH18 multiprotein family, from early eukaryotes to mammals, in an effort to understand the forces that shaped the human genome content of chitinase related proteins. Results Gene duplication and loss according to a birth-and-death model of evolution is a feature of the evolutionary history of the GH18 family. The current human family likely originated from ancient genes present at the time of the bilaterian expansion (approx. 550 mya). The family expanded in the chitinous protostomes C. elegans and D. melanogaster, declined in early deuterostomes as chitin synthesis disappeared, and expanded again in late deuterostomes with a significant increase in gene number after the avian/mammalian split. Conclusion This comprehensive genomic study of animal GH18 proteins reveals three major phylogenetic groups in the family: chitobiases, chitinases/chitolectins, and stabilin-1 interacting chitolectins. Only the chitinase/chitolectin group is associated with expansion in late deuterostomes. Finding that the human GH18 gene family is closely linked to the human major histocompatibility complex paralogon on chromosome 1, together with the recent association of GH18 chitinase activity with Th2 cell inflammation, suggests that its late expansion could be related to an emerging interface of innate and adaptive immunity during early vertebrate history.

Funkhouser, Jane D; Aronson, Nathan N

2007-01-01

408

Family Therapy and Other Family Intervention-Based Efforts  

Microsoft Academic Search

\\u000a In many ways, the history of family therapy is the history of interventions that target families with adolescents, as many\\u000a early family therapists were focused on adolescent-oriented issues that were being seen for the first time within the context\\u000a of the family. The present chapter covers a number of interventions targeting families with adolescents that have received\\u000a sizable empirical attention

Stephen M. Gavazzi

409

Family Systems Consultation: Opportunities for Teaching in Family Medicine  

Microsoft Academic Search

Family-systems consultation offers opportunities to teach residents basic concepts and relevant skills for working with families in family medicine. The application of systems theory to the consultation process helps clarify the role of the consultant-teacher in relation to the patient or family and the consultee-practitioner. Residents are able to gain experience interviewing and assessing families from their own practices with

Susan H. McDaniel; Thomas Campbell; Lyman C. Wynne; Timothy Weber

1988-01-01

410

The effects of family composition, health, and social support linkages on mortality.  

PubMed

This study reveals how family living arrangements influence mortality. I use the National Health Interview Survey, Supplement on Aging, and discrete-time hazard rate models to show that some family arrangements result from strong social bonds, but others are a result of financial needs or health problems. In some instances, it is not family living arrangements that influence the risk of mortality but vice versa: The family rearranges itself to deal with ill health and disability among its members. The family strives to promote health, prevent disease, and encourage economic security. However, family members who endure economic or health hardships face increased risk of death. PMID:8997888

Rogers, R G

1996-12-01

411

Familial Mediterranean Fever  

PubMed Central

The success of colchicine therapy in the management of familial Mediterranean fever has provided new direction to investigations into the pathogenesis of this disease. Examination of HLA antigen frequencies in 53 patients with familial Mediterranean fever and appropriate controls, as well as various immunologic studies have yielded no significant differences. However, B lymphocyte typing and assays for immune complexes, lymphokines and prostaglandins may be of potential interest. Preliminary studies indicate that leukocytes of patients with familial Mediterranean fever release increased amounts of lysozyme (P<0.01), when subjected to high temperatures, and of both lysozyme and myeloperoxidase at low osmotic concentrations. The known and potential effects of colchicine on leukocyte and cellular metabolism, and the current status of colchicine prophylaxis are reviewed. In patients receiving an optimum colchicine dose of 1.5 to 1.8 mg per day, side effects have been minimal and the frequency of attacks has been decreased significantly.

Schwabe, Arthur D.; Terasaki, Paul I.; Barnett, Eugene V.; Territo, Mary C.; Klinenberg, James R.; Peters, Robert S.

1977-01-01

412

The family interview.  

PubMed

Families of study children were interviewed, with a focus on parents' observations of the personality and behavior of their offspring. The family interview was also the primary source of information about the home environment and possible psychopathology in nonschizophrenic parents. By parental report, index children were more likely than controls to have developed psychopathological symptoms related to mood, social withdrawal, antisocial behavior, eating, and obsessive-compulsive behavior. Traits of self-esteem, adaptability, reliability, and degree of task orientation were more poorly developed in index than control subjects. Index subjects also tended to have poorer relationships with both peers and family members. While boys and girls showed similar patterns of psychopathology, boys tended to have somewhat higher levels of impairment. No differences or interactions due to type of rearing were found. PMID:3983570

Shotten, J H

1985-01-01

413

Familial adenomatous polyposis.  

PubMed

Familial adenomatous polyposis (FAP) is a rare disorder associated with less than 1% of colorectal carcinomas (CRCs). Since FAP is a potentially preventable cause of CRC clinicians should have an adequate knowledge of it to identify the disease and to manage the patient and family. FAP is an autosomal dominant inherited disorder characterised by the development of more than a hundred adenomatous polyps in the colon and rectum which can undergo malignant change. Children of an affected individual are at 50% risk of inheriting the predisposing gene. After the identification of an index patient, genetic testing in combination with the detection of extra-colonic manifestations allows more accurate identification of family members likely to have the faulty gene, enabling the targetting of screening and preventive surgery only to those at risk. FAP also provides insights into the development, progression and prevention of sporadic CRC. PMID:9704551

de Silva, D C; Fernando, R

1998-06-01

414

Family formation and urbanization.  

PubMed

"This article will deal with two stages in the family life course: formation of the couple through marriage, and the birth of successive children.... We shall investigate whether migration into or out of a metropolitan area modifies the formation of the family, and conversely whether the different stages in family formation modify migration behaviour....First, using a nonparametric approach, we shall consider the sequence of events throughout an individual's life-course, and thereby demonstrate how the occurrence of one life-event alters the probability of the occurrence of others." Next, a semiparametric approach is used to analyze the impact of variables such as educational level, occupational level, and social class on marriage, fertility, and migration. The geographic focus is on France. PMID:12157901

Courgeau, D

1989-09-01

415

IRAS asteroid families  

NASA Technical Reports Server (NTRS)

The Infrared Astronomical Satellite (IRAS) sampled the entire asteroid population at wavelengths from 12 to 100 microns during its 1983 all sky survey. The IRAS Minor Planet Survey (IMPS) includes updated results for more recently numbered as well as other additional asteroids with reliable orbital elements. Albedos and diameters were derived from the observed thermal emission and assumed absolute visual magnitudes and then entered into the IMPS database at the Infrared Processing and Analysis Center (IPAC) for members of the Themis, Eos, Koronis and Maria asteroid families and compared with their visual colors. The IMPS results for the small (down to about 20 km) asteroids within these major families confirm trends previously noted for their larger members. Each of these dynamical families which are defined by their similar proper elements appears to have homogeneous physical properties.

Veeder, G. J.; Williams, J. G.; Tedesco, E. F.; Matson, D. L.

1991-01-01

416

Characterizing gene family evolution  

PubMed Central

Gene families are widely used in comparative genomics, molecular evolution, and in systematics. However, they are constructed in different manners, their data analyzed and interpreted differently, with different underlying assumptions, leading to sometimes divergent conclusions. In systematics, concepts like monophyly and the dichotomy between homoplasy and homology have been central to the analysis of phylogenies. We critique the traditional use of such concepts as applied to gene families and give examples of incorrect inferences they may lead to. Operational definitions that have emerged within functional genomics are contrasted with the common formal definitions derived from systematics. Lastly, we question the utility of layers of homology and the meaning of homology at the character state level in the context of sequence evolution. From this, we move forward to present an idealized strategy for characterizing gene family evolution for both systematic and functional purposes, including recent methodological improvements.

Liberles, David A.

2008-01-01

417

Family size evolution in Drosophila chemosensory gene families: a comparative analysis with a critical appraisal of methods.  

PubMed

Gene turnover rates and the evolution of gene family sizes are important aspects of genome evolution. Here, we use curated sequence data of the major chemosensory gene families from Drosophila-the gustatory receptor, odorant receptor, ionotropic receptor, and odorant-binding protein families-to conduct a comparative analysis among families, exploring different methods to estimate gene birth and death rates, including an ad hoc simulation study. Remarkably, we found that the state-of-the-art methods may produce very different rate estimates, which may lead to disparate conclusions regarding the evolution of chemosensory gene family sizes in Drosophila. Among biological factors, we found that a peculiarity of D. sechellia's gene turnover rates was a major source of bias in global estimates, whereas gene conversion had negligible effects for the families analyzed herein. Turnover rates vary considerably among families, subfamilies, and ortholog groups although all analyzed families were quite dynamic in terms of gene turnover. Computer simulations showed that the methods that use ortholog group information appear to be the most accurate for the Drosophila chemosensory families. Most importantly, these results reveal the potential of rate heterogeneity among lineages to severely bias some turnover rate estimation methods and the need of further evaluating the performance of these methods in a more diverse sampling of gene families and phylogenetic contexts. Using branch-specific codon substitution models, we find further evidence of positive selection in recently duplicated genes, which attests to a nonneutral aspect of the gene birth-and-death process. PMID:24951565

Almeida, Francisca C; Sánchez-Gracia, Alejandro; Campos, Jose Luis; Rozas, Julio

2014-01-01

418

Gaspra and Ida in Families.  

National Technical Information Service (NTIS)

The Galileo flyby candidates 951 Gaspra and 243 Ida are both in families. The former is in a complex of families associated with 8 Flora and the latter is in the Koronis family. The Flora and the Koronis families are described. The Galileo spacecraft will...

J. G. Williams

1992-01-01

419

Work and Family. Special Focus.  

ERIC Educational Resources Information Center

This newsletter issue focuses on issues concerning families with both parents employed outside the home and describes several employer programs designed to help employees balance their work and family life. The newsletter includes the following articles: (1) "Work and Family: 1992"; (2) "Levi Strauss and Co.--A Work/Family Program in Action"; (3)…

Goetz, Kathy, Ed.

1992-01-01

420

The Power of Family Literacy.  

ERIC Educational Resources Information Center

This report presents the early findings from the analysis of a family literacy demonstration project under the direction of the National Center for Family Literacy. The data in this report are based upon the experiences of over 300 families who participated in the Toyota Families for Learning Program during the 1992-1993 school year. The first…

National Center for Family Literacy, Louisville, KY.

421

Implementing the Values and Strategies of Family to Family. Family to Family: Tools for Rebuilding Foster Care.  

ERIC Educational Resources Information Center

This guide helps child welfare agencies and their partners craft more family-focused and neighborhood-based service systems. It suggests a framework that agencies can use to assess their current policies and practices and develop plans to integrate Family to Family values, principles, and strategies into existing initiatives and activities. Family

Thielman, Betse

422

Measuring Family Reunion Travel Motivations  

Microsoft Academic Search

The study developed a Family Reunion Travel Motivation Scale (FRTMS) measuring family reunion travelers’ motivations. Through a rigorous scale development process, the final model of the scale exhibits excellent levels of psychometric properties. Details of each step are described in this paper. The 15-items scale contains four dimensions labeled as: (a) family history and togetherness, (b) immediate family cohesion, (c)

Juyeon Y. Kluin; Xinran Y. Lehto

423

Gendered Discourse about Family Business  

ERIC Educational Resources Information Center

Language patterns of family business owners were explored by identifying discourse styles and emphasized ideas in four presenting contexts: business, family, intersection of family and business, and business success. The content analysis supports the existence of a general discourse style within family businesses and of similarities and…

Danes, Sharon M.; Haberman, Heather R.; McTavish, Donald

2005-01-01

424

Multilocus sequence analysis of the family Halomonadaceae.  

PubMed

Multilocus sequence analysis (MLSA) protocols have been developed for species circumscription for many taxa. However, at present, no studies based on MLSA have been performed within any moderately halophilic bacterial group. To test the usefulness of MLSA with these kinds of micro-organisms, the family Halomonadaceae, which includes mainly halophilic bacteria, was chosen as a model. This family comprises ten genera with validly published names and 85 species of environmental, biotechnological and clinical interest. In some cases, the phylogenetic relationships between members of this family, based on 16S rRNA gene sequence comparisons, are not clear and a deep phylogenetic analysis using several housekeeping genes seemed appropriate. Here, MLSA was applied using the 16S rRNA, 23S rRNA, atpA, gyrB, rpoD and secA genes for species of the family Halomonadaceae. Phylogenetic trees based on the individual and concatenated gene sequences revealed that the family Halomonadaceae formed a monophyletic group of micro-organisms within the order Oceanospirillales. With the exception of the genera Halomonas and Modicisalibacter, all other genera within this family were phylogenetically coherent. Five of the six studied genes (16S rRNA, 23S rRNA, gyrB, rpoD and secA) showed a consistent evolutionary history. However, the results obtained with the atpA gene were different; thus, this gene may not be considered useful as an individual gene phylogenetic marker within this family. The phylogenetic methods produced variable results, with those generated from the maximum-likelihood and neighbour-joining algorithms being more similar than those obtained by maximum-parsimony methods. Horizontal gene transfer (HGT) plays an important evolutionary role in the family Halomonadaceae; however, the impact of recombination events in the phylogenetic analysis was minimized by concatenating the six loci, which agreed with the current taxonomic scheme for this family. Finally, the findings of this study also indicated that the 16S rRNA, gyrB and rpoD genes were the most suitable genes for future taxonomic studies using MLSA within the family Halomonadaceae. PMID:21478390

de la Haba, Rafael R; Márquez, M Carmen; Papke, R Thane; Ventosa, Antonio

2012-03-01

425

A growing family  

PubMed Central

As the upward spiral of novel cancer gene discoveries and novel molecular compounds continues to accelerate, a repetitive theme in molecular drug development remains the lack of activity of initially promising agents when given to patients in clinical trials. It is however invigorating that a few targeted agents directed against a select group of a few ‘cancer gene superfamilies’ have escaped this all to common fate, and have evolved into novel, clinically meaningful molecular therapy strategies. Targeting dysregulated signaling of the epidermal growth factor family of transmembrane receptors (Erbb family) has encompassed over the last decade an ever increasing role in personalized treatment approaches in an increasing number of human malignancies. Erbbs are receptor tyrosine kinases that are important regulators of several signaling pathways. Two of its family members (Erbb1/EGFR and Erbb2/HER2) have previously been shown to be somatically mutated of human cancers. To determine if this family is somatically mutated in melanoma, its sequences were recently analyzed and one of its members, Erbb4, was found to be somatically mutated in 19% of melanoma cases. Functional analysis of seven of its mutations was shown to increase its catalytic and transformation abilities as well as providing essential survival signals. Similar to other Erbb family members, mutant Erbb4 seems to confer “oncogene addiction” on melanoma cells, making it an attractive therapeutic target. Gaining further understanding into the oncogenic mechanism of Erbb4 may not only help in the development of targeted therapy in melanoma patients but might accelerate the acceptance of a novel taxonomy of cancer which is based on the genomic perturbations in cancer genes and cancer gene families and their response to targeted agents.

Rudloff, Udo; Samuels, Yardena

2012-01-01

426

1.OA Fact Families  

NSDL National Science Digital Library

This is a task from the Illustrative Mathematics website that is one part of a complete illustration of the standard to which it is aligned. Each task has at least one solution and some commentary that addresses important asects of the task and its potential use. Here are the first few lines of the commentary for this task: Materials * Fact Family work sheets * Blank addition and subtraction frames (2 of each) * Numbers cards in fact-family sets Actions As a whole class, t...

427

Familial distal dysautonomia.  

PubMed Central

A patient is described who presented with painful feet on exercise. He had no evidence of peripheral vascular disease but did have anhidrosis and failure of vasodilatation in the hands and feet suggesting peripheral dysautonomia. Examination of his mother and a cousin and clinical histories of blood relatives suggested that his problem was a severe presentation of a familial distal dysautonomia. In other family members this was represented by dry hands and feet and variable vasomotor symptoms. This condition appeared to be autosomal dominant.

Robinson, B; Johnson, R; Abernethy, D; Holloway, L

1989-01-01

428

Familial Behçet's disease.  

PubMed

Behçet's disease (BD) is a multisystemic vasculitis syndrome characterized by a course of remissions and exacerbations of unpredictable frequency and duration. The disease has a worldwide distribution, but the majority of cases cluster along the ancient Silk Road, which extends from eastern Asia to the Mediterranean basin. The etiopathogenesis of BD is still unknown, but familial aggregation and peculiar geographical distribution have been regarded as evidence supporting genetic influence on the pathogenesis of BD. In this article, we describe a patient with BD, who had four members of his family associated with BD. PMID:19575202

Yilmaz, Sema; Cimen, Kadriye Akar

2010-06-01

429

Progressive familial intrahepatic cholestasis.  

PubMed

Progressive familial intrahepatic cholestasis (PFIC) is an important cause of cholestatic liver disease and biliary cirrhosis in pediatric population. Three cases of PFIC are described that were diagnosed on the basis of family history, pruritus, cirrhosis and / or paucity of interlobular bile ducts on liver biopsy and presence of extrahepatic biliary tree on imaging. These patients were initially labeled as suffering from extra-hepatic biliary atresia and neonatal hepatitis. PFIC-1 and 2 could not be differentiated on histological grounds, since these patients presented late and process of fibrosis was advanced. PMID:17007761

Mirza, Rashid; Abbas, Zaigham; Luck, Nasir Hassan; Azam, S M Zahid; Aziz, Sina; Hassan, Syed Mujahid; Soomro, Ghous Bakhsh

2006-10-01

430

One family's air pollution  

SciTech Connect

The author's family pollutes directly or indirectly in five major ways: wastewater discharge; automobile exhaust; home heating oil furnace exhaust; trash disposal; and electricity usage (and the use of other consumer goods whose manufacture and transport caused some level of pollution). He decided to try to quantify how much his family contributed to pollution in one year, 1988. Four sources of air pollution were considered and are quantified: car exhausts, home heating oil exhausts, electricity, and trash disposal (through a waste-to-energy plant).

Getz, N.P.

1990-02-01

431