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Jennifer D Cohen, Kristen M Flatt, Nathan E Schroeder, Meera V Sundaram
The body's external surfaces and the insides of biological tubes, like the vascular system, are lined by a lipid, glycoprotein-, and glycosaminoglycan-rich apical extracellular matrix (aECM). aECMs are the body's first line of defense against infectious agents and promote tissue integrity and morphogenesis, but are poorly described relative to basement membranes and stromal ECMs. While some aECM components, such as zona pellucida domain (ZP) proteins, have been identified, little is known regarding the overall composition of the aECM or the mechanisms by which different aECM components work together to shape epithelial tissues...
November 8, 2018: Genetics
Kristen M Flatt, Caroline Beshers, Cagla Unal, Jennifer D Cohen, Meera V Sundaram, Nathan E Schroeder
Phenotypic plasticity is a critical component of an organism's ability to thrive in a changing environment. The free-living nematode, Caenorhabditis elegans , adapts to unfavorable environmental conditions by pausing reproductive development and entering a stress-resistant larval stage known as dauer. The transition into dauer is marked by vast morphological changes - including remodeling of epidermis, neurons and muscle. Though many of these dauer-specific traits have been described, the molecular basis of dauer-specific remodeling is still poorly understood...
November 8, 2018: Genetics
Anne K J Giesbers, Erik den Boer, Jacqueline J W E H Ulen, Martijn P W van Kaauwen, Richard G F Visser, Rients E Niks, Marieke J W Jeuken
Interspecific crosses can result in progeny with reduced vitality or fertility due to genetic incompatibilities between species, a phenomenon known as hybrid incompatibility (HI). HI is often caused by a bias against deleterious allele combinations, which results in transmission ratio distortion (TRD). Here, we determined the genome-wide distribution of HI between wild lettuce, Lactuca saligna, and cultivated lettuce, L. sativa , in a set of backcross inbred lines (BILs) with single introgression segments from L...
November 6, 2018: Genetics
Manar Abu Diab, Hagar Mor-Shaked, Eliora Cohen, Yaara Cohen-Hadad, Oren Ram, Silvina Epsztejn-Litman, Rachel Eiges
Pathological mutations involving noncoding microsatellite repeats are typically located near promoters in CpG islands and are coupled with extensive repeat instability when sufficiently long. What causes these regions to be prone to repeat instability is not fully understood. There is a general consensus that instability results from the induction of unusual structures in the DNA by the repeats as a consequence of mispairing between complementary strands. In addition, there is some evidence that repeat instability is mediated by RNA transcription through the formation of three-stranded nucleic structures composed of persistent DNA:RNA hybrids, concomitant with single strand DNA displacements (R-loops)...
November 5, 2018: Genetics
Michael D Edge, Graham Coop
Genome-wide association studies (GWAS) have revealed that many traits are highly polygenic, in that their within-population variance is governed in part by small-effect variants at many genetic loci. Standard population-genetic methods for inferring evolutionary history are ill-suited for polygenic traits-when there are many variants of small effect, signatures of natural selection are spread across the genome and subtle at any one locus. In the last several years, several methods have emerged for detecting the action of natural selection on polygenic scores, sums of genotypes weighted by GWAS effect sizes...
November 2, 2018: Genetics
Roberto Perales, Daniel Pagano, Gang Wan, Brandon D Fields, Arneet L Saltzman, Scott G Kennedy
Transgenerational epigenetic inheritance (TEI) is the inheritance of epigenetic information for two or more generations. In most cases, TEI is limited to a small number of generations (2-3). The short-term nature of TEI could be set by innate biochemical limitations to TEI or by genetically encoded systems that actively limit TEI. dsRNA-mediated gene silencing (RNAi) can be inherited in Caenorhabditis elegans (termed RNAi inheritance or RNA-directed TEI). To identify systems that might actively limit RNA-directed TEI, we conducted a forward genetic screen for factors whose mutation enhanced RNAi inheritance...
November 2, 2018: Genetics
Eleanor K O'Brien, Jason B Wolf
Genomic imprinting shapes the genotype-phenotype relationship by creating an asymmetry between the influences of paternally and maternally inherited gene copies. Consequently, imprinting can impact heritable and nonheritable variation, resemblance of relatives, and evolutionary dynamics. Although previous analyses have identified some of the quantitative genetic consequences of imprinting, we lack a framework that cleanly separates the influence of imprinting from other components of variation, particularly dominance...
November 2, 2018: Genetics
Francesca Di Cara, Richard A Rachubinski, Andrew J Simmonds
Peroxisomes are ubiquitous membrane-enclosed organelles involved in lipid processing and reactive oxygen detoxification. Mutations in human peroxisome biogenesis genes ( Peroxin , PEX or Pex ) cause developmental disabilities and often early death. Pex5 and Pex7 are receptors that recognize different peroxisomal targeting signals called PTS1 and PTS2, respectively, and traffic proteins to the peroxisomal matrix. We characterized mutants of Drosophila melanogaster Pex5 and Pex7 and found that adult animals are affected in lipid processing...
November 2, 2018: Genetics
Xuesong Han, Yao Qin, Feng Yu, Xuemei Ren, Zuxin Zhang, Fazhan Qiu
Genomic deletions are pervasive in the maize ( Zea mays L . ) genome and play important roles in phenotypic variation and adaptive evolution. However, little is known about the biological functions of these genomic deletions. Here, we reported the biological function of a megabase-scale deletion, which we identifed by position-based cloning of the multi-trait weakened ( muw ) mutant, which is inherited as a single recessive locus. MUW was mapped to a 5.16-Mb region on chromosome 2. The 5.16-Mb deletion in the muw mutant led to the loss of 48 genes and was responsible for a set of phenotypic abnormities, including wilting leaves, poor yield performance, reduced plant height, increased stomatal density, and rapid water loss...
November 2, 2018: Genetics
Angela P Van de Wouw, Candace E Elliott, Kerryn M Popa, Alexander Idnurm
Gene duplication contributes to evolutionary potential, yet many duplications in a genome arise from the activity of 'selfish' genetic elements such as transposable elements. Fungi have a number of mechanisms by which they limit the expansion of transposons, including Repeat Induced Point mutation (RIP). RIP has been best characterized in the Sordariomycete Neurospora crassa wherein duplicated DNA regions are recognized after cell fusion but before nuclear fusion during the sexual cycle, and then mutated. While 'signatures' of RIP appear in the genome sequences of many fungi, the species most distant from N...
November 2, 2018: Genetics
Rachel M Warga, Donald A Kane
Cadherins are cell-cell adhesion molecules that regulate numerous adhesive interactions during embryonic development and adult life. Consistent with these functions, when their expression goes astray cells loose their normal adhesive properties resulting in defective morphogenesis, disease, and even metastatic cancer. In general, classical cadherins exert their effect by homophilic interactions via their five characteristic extracellular (EC) repeats. The EC1 repeat provides the mechanism for cadherins to dimerize with each other whereas the EC2 repeat may facilitate dimerization...
October 25, 2018: Genetics
Sam Cutler, Laura J Lee, Toshio Tsukiyama
In the budding yeast Saccharomyces cerevisiae , ribosomal RNA genes are encoded in a highly repetitive tandem array referred to as the ribosomal DNA (rDNA) locus. The yeast rDNA is the site of a diverse set of DNA-dependent processes, including transcription of ribosomal RNAs by RNA Polymerases I and III, transcription of non-coding RNAs by RNA Polymerase II, DNA replication initiation, replication fork blocking, and recombination-mediated regulation of rDNA repeat copy number. All of this takes place in the context of chromatin, but little is known about the roles played by ATP-dependent chromatin remodeling factors at the yeast rDNA...
October 24, 2018: Genetics
Shelby L Ellison, Claire H Luby, Keo E Corak, Kevin M Coe, Douglas Senalik, Massimo Iorizzo, Irwin L Goldman, Philipp W Simon, Julie C Dawson
Carrots are among the richest sources of provitamin A carotenes in the human diet, but genetic variation in the carotenoid pathway does not fully explain the high levels of carotenoids in carrot roots. Using a diverse collection of modern and historic domesticated varieties and wild carrot accessions, an association analysis for orange pigmentation revealed a significant genomic region that contains the Or gene, advancing it as a candidate for carotenoid presence in carrot. Analysis of sequence variation at the Or locus revealed a nonsynonymous mutation co-segregating with carotenoid content...
October 23, 2018: Genetics
Vandana Raghavan, Duyen T Bui, Najla Al-Sweel, Anne Friedrich, Joseph Schacherer, Charles F Aquadro, Eric Alani
Laboratory baker's yeast strains bearing an incompatible combination of MLH1 and PMS1 mismatch repair alleles are mutators that can adapt more rapidly to stress but do so at the cost of long-term fitness. We identified 18 baker's yeast isolates from 1011 surveyed that contain the incompatible MLH1-PMS1 genotype in a heterozygous state. Surprisingly, the incompatible combination from two human clinical heterozygous diploid isolates, YJS5845 and YJS5885, contain the exact MLH1 (S288c derived) and PMS1 (SK1 derived) open reading frames originally shown to confer incompatibility...
October 22, 2018: Genetics
Tanja Schallschmidt, Sandra Lebek, Delsi Altenhofen, Mareike Damen, Yvonne Schulte, Birgit Knebel, Ralf Herwig, Axel Rasche, Torben Stermann, Anne Kamitz, Nicole Hallahan, Markus Jähnert, Heike Vogel, Annette Schürmann, Alexandra Chadt, Hadi Al-Hasani
To identify novel disease genes for type 2 diabetes (T2D) we generated two backcross populations of obese and diabetes-susceptible New Zealand Obese (NZO/HI) with the two lean mouse strains 129P2/OlaHsd and C3HeB/FeJ. Subsequent whole-genome linkage scans revealed 30 novel quantitative trait loci (QTL) for T2D-associated traits. The strongest association with blood glucose (12 cM, LOD 13.3) and plasma insulin (17 cM, LOD 4.8) was detected on proximal chromosome 7 (designated Nbg7p , NZO blood glucose on proximal chromosome 7) exclusively in the NZOxC3H crossbreeding, suggesting that the causal gene is contributed by the C3H genome...
October 19, 2018: Genetics
Kathryn S Evans, Shannon C Brady, Joshua S Bloom, Robyn E Tanny, Daniel E Cook, Sarah E Giuliani, Stephen W Hippleheuser, Mostafa Zamanian, Erik C Andersen
Phenotypic complexity is caused by the contributions of environmental factors and multiple genetic loci, interacting or acting independently. Studies of yeast and Arabidopsis often find that the majority of natural variation across phenotypes is attributable to independent additive quantitative trait loci (QTL). Detected loci in these organisms explain most of the estimated heritable variation. By contrast, many heritable components underlying phenotypic variation in metazoan models remain undetected. Before the relative impacts of additive and interactive variance components on metazoan phenotypic variation can be dissected, high replication and precise phenotypic measurements are required to obtain sufficient statistical power to detect loci contributing to this missing heritability...
October 19, 2018: Genetics
Amanda M Davis, James Ronald, Zisong Ma, Anthony J Wilkinson, Koumis Philippou, Takayuki Shindo, Christine Queitsch, Seth J Davis
The plant circadian clock allows the synchronization of internal physiological responses to match the predicted environment. HSP90.2 is a molecular chaperone that has been previously described as required for the proper function of the Arabidopsis oscillator under both ambient and warm temperatures. Here we have characterized the circadian phenotype of the hsp90.2-3 mutant. As previously reported using pharmacological or RNAi inhibitors of HSP90 function, we found that hsp90.2-3 lengthens circadian period and the observed period lengthening was more exaggerated in warm-cold entrained seedlings...
October 18, 2018: Genetics
Kang Huang, Rui Mi, Derek W Dunn, Tongcheng Wang, Baoguo Li
Parentage analysis is an important method, used widely in zoological and ecological studies. Current mathematical models of parentage analyses usually assume that a population has a uniform genetic structure and that mating is panmictic. In a natural population, the geographic or social structure of a population, and/or non-random mating, usually leads to a genetic structure and results in genotypic frequencies deviating from those expected under the Hardy-Weinberg Equilibrium (HWE). In addition, in the presence of null alleles, an observed genotype represents one of several possible true genotypes...
October 18, 2018: Genetics
Denise J Schwahn, Richard J Wang, Michael A White, Bret A Payseur
Hybrid sterility is a common form of reproductive isolation between nascent species. Although hybrid sterility is routinely documented and genetically dissected in speciation studies, its developmental basis is rarely examined, especially in generations beyond the F1 To identify phenotypic and genetic determinants of hybrid male sterility from a developmental perspective, we characterized testis histology in 312 F2 hybrids generated by intercrossing inbred strains of Mus musculus domesticus and M. m. musculus , two subspecies of house mice...
October 17, 2018: Genetics
Huiyan Huang, Dustin J Hayden, Chen-Tseh Zhu, Heather L Bennett, Vivek Venkatachalam, Lukas L Skuja, Anne C Hart
An essential characteristic of sleep is heightened arousal threshold, with decreased behavioral response to external stimuli. The molecular and cellular mechanisms underlying arousal threshold changes during sleep are not fully understood. We report that loss of UNC-7 or UNC-9 innexin function dramatically reduced sleep and decreases arousal threshold during C. elegans developmentally-timed sleep. UNC-7 function was required in premotor interneurons and UNC-9 function was required in motor neurons in this paradigm...
October 15, 2018: Genetics
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