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981.
Waldir M. Berbel‐Filho Carlos Garcia de Leaniz Paloma Morn Joanne Cable Sergio M. Q. Lima Sofia Consuegra 《Ecology and evolution》2019,9(15):8736-8748
Parasite‐mediated selection is one of the main drivers of genetic variation in natural populations. The persistence of long‐term self‐fertilization, however, challenges the notion that low genetic variation and inbreeding compromise the host's ability to respond to pathogens. DNA methylation represents a potential mechanism for generating additional adaptive variation under low genetic diversity. We compared genetic diversity (microsatellites and AFLPs), variation in DNA methylation (MS‐AFLPs), and parasite loads in three populations of Kryptolebias hermaphroditus, a predomintanly self‐fertilizing fish, to analyze the potential adaptive value of DNA methylation in relation to genetic diversity and parasite loads. We found strong genetic population structuring, as well as differences in parasite loads and methylation levels among sampling sites and selfing lineages. Globally, the interaction between parasites and inbreeding with selfing lineages influenced DNA methylation, but parasites seemed more important in determining methylation levels at the local scale. 相似文献
982.
Rowena Gordon Sally Ivens Loren K. Ammerman M. Brock Fenton Joanne E. Littlefair John M. Ratcliffe Elizabeth L. Clare 《Ecology and evolution》2019,9(6):3117-3129
Interspecific differences in traits can alter the relative niche use of species within the same environment. Bats provide an excellent model to study niche use because they use a wide variety of behavioral, acoustic, and morphological traits that may lead to multi‐species, functional groups. Predatory bats have been classified by their foraging location (edge, clutter, open space), ability to use aerial hawking or substrate gleaning and echolocation call design and flexibility, all of which may dictate their prey use. For example, high frequency, broadband calls do not travel far but offer high object resolution while high intensity, low frequency calls travel further but provide lower resolution. Because these behaviors can be flexible, four behavioral categories have been proposed: (a) gleaning, (b) behaviorally flexible (gleaning and hawking), (c) clutter‐tolerant hawking, and (d) open space hawking. Many recent studies of diet in bats use molecular tools to identify prey but mainly focus on one or two species in isolation; few studies provide evidence for substantial differences in prey use despite the many behavioral, acoustic, and morphological differences. Here, we analyze the diet of 17 sympatric species in the Chihuahuan desert and test the hypothesis that peak echolocation frequency and behavioral categories are linked to differences in diet. We find no significant correlation between dietary richness and echolocation peak frequency though it spanned close to 100 kHz across species. Our data, however, suggest that bats which use both gleaning and hawking strategies have the broadest diets and are most differentiated from clutter‐tolerant aerial hawking species. 相似文献
983.
Lamis Yehia Farshad Niazi Ying Ni Joanne Ngeow Madhav Sankunny Zhigang Liu Wei Wei Jessica?L. Mester Ruth?A. Keri Bin Zhang Charis Eng 《American journal of human genetics》2015,97(5):661-676
Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development. Cowden syndrome (CS) is an autosomal-dominant disorder characterized by high lifetime risks of epithelial cancers, such that ∼50% of affected individuals are wild-type for known cancer-predisposing genes. Using whole-exome and Sanger sequencing of a multi-generation CS family affected by thyroid and other cancers, we identified a pathogenic missense heterozygous SEC23B variant (c.1781T>G [p.Val594Gly]) that segregates with the phenotype. We also found germline heterozygous SEC23B variants in 3/96 (3%) unrelated mutation-negative CS probands with thyroid cancer and in The Cancer Genome Atlas (TCGA), representing apparently sporadic cancers. We note that the TCGA thyroid cancer dataset is enriched with unique germline deleterious SEC23B variants associated with a significantly younger age of onset. SEC23B encodes Sec23 homolog B (S. cerevisiae), a component of coat protein complex II (COPII), which transports proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. Interestingly, germline homozygous or compound-heterozygous SEC23B mutations cause an unrelated disorder, congenital dyserythropoietic anemia type II, and SEC23B-deficient mice suffer from secretory organ degeneration due to ER-stress-associated apoptosis. By characterizing the p.Val594Gly variant in a normal thyroid cell line, we show that it is a functional alteration that results in ER-stress-mediated cell-colony formation and survival, growth, and invasion, which reflect aspects of a cancer phenotype. Our findings suggest a different role for SEC23B, whereby germline heterozygous variants associate with cancer predisposition potentially mediated by ER stress “addiction.” 相似文献
984.
985.
The RAGE receptor and its ligands are highly expressed in astrocytes in a grade‐dependant manner in the striatum and subependymal layer in Huntington's disease 下载免费PDF全文
986.
Joongho Shin Azadeh Carr Georgia A. Corner Lars T?gel Mercedes Dávalos-Salas Hoanh Tran Anderly C. Chueh Sheren Al-Obaidi Fiona Chionh Naseem Ahmed Daniel D. Buchanan Joanne P. Young Madhu S. Malo Richard A. Hodin Diego Arango Oliver M. Sieber Leonard H. Augenlicht Amardeep S. Dhillon Thomas K. Weber John M. Mariadason 《The Journal of biological chemistry》2015,290(25):15392
987.
988.
Anna-Barbara Stittrich Anna Lehman Dale?L. Bodian Justin Ashworth Zheyuan Zong Hong Li Patricia Lam Alina Khromykh Ramaswamy?K. Iyer Joseph?G. Vockley Rajiv Baveja Ermelinda?Santos Silva Joanne Dixon Eyby?L. Leon Benjamin?D. Solomon Gustavo Glusman John?E. Niederhuber Jared?C. Roach Millan?S. Patel 《American journal of human genetics》2014,95(3):275-284
Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key developmental systems, human mutations in Notch signaling components have mainly been described in disorders with vascular and bone effects. Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects. Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5′ region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. In a fifth family, we identified a heterozygous canonical splice-site variant (c.743−1 G>T) in an affected father and daughter. These variants were not present in 5,077 in-house control genomes or in public databases. In keeping with the prominent developmental role described for Notch1 in mouse vasculature, we observed cardiac and multiple vascular defects in four of the five families. We propose that the limb and scalp defects might also be due to a vasculopathy in NOTCH1-related AOS. Our results suggest that mutations in NOTCH1 are the most common cause of AOS and add to a growing list of human diseases that have a vascular and/or bony component and are caused by alterations in the Notch signaling pathway. 相似文献
989.
990.
Joongho Shin Azadeh Carr Georgia A. Corner Lars T?gel Mercedes Dávaos-Salas Hoanh Tran Anderly C. Chueh Sheren Al-Obaidi Fiona Chionh Naseem Ahmed Daniel D. Buchanan Joanne P. Young Madhu S. Malo Richard A. Hodin Diego Arango Oliver M. Sieber Leonard H. Augenlicht Amardeep S. Dhillon Thomas K. Weber John M. Mariadason 《The Journal of biological chemistry》2014,289(36):25306-25316