کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5506693 | 1400302 | 2016 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis
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کلمات کلیدی
ORFWWSPOMT1RT-PCRFCMDDystroglycanopathiesDGCLGMDOMIMCMDMEB - MONECongenital muscular dystrophy - دیستروفی عضلانی مادرزادیLimb-girdle muscular dystrophy - دیستروفی عضلانی کمربند کمربندDystroglycan - دیستروگلیکانWalker-Warburg syndrome - سندرم واکر واربورگmuscle-eye-brain disease - عضله چشم مغز بیماریopen reading frame - قاب خواندن بازChicken - مُرغ خانگیMus musculus - نام علمی انسانHomo sapiens - نام علمی انسانGallus gallus - و Gallusreverse transcription-polymerase chain reaction - واکنش زنجیره ای رونویسی-پلیمراز معکوسOnline Mendelian Inheritance in Man - وراث آنلاین مندلیان در انسان
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Alpha-dystroglycanopathies are a heterogenic group of human rare diseases that have in common defects of α-dystroglycan O-glycosylation. These congenital disorders share common features as muscular dystrophy, malformations on central nervous system and more rarely altered ocular development, as well as mutations on a set of candidate genes involved on those syndromes. Severity of the syndromes is variable, appearing Walker-Warburg as the most severe where mutations at protein O-mannosyl transferases POMT1 and POMT2 genes are frequently described. When studying the lack of MmPomt1 in mouse embryonic development, as a murine model of Walker-Warburg syndrome, MmPomt1 null phenotype was lethal because Reitchert's membrane fails during embryonic development. Here, we report gene expression from Gallus gallus orthologous genes to human candidates on alpha-dystroglycanopathies POMT1, POMT2, POMGnT1, FKTN, FKRP and LARGE, making special emphasis in expression and localization of GgPomt1. Results obtained by quantitative RT-PCR, western-blot and immunochemistry revealed close gene expression patterns among human and chicken at key tissues affected during development when suffering an alpha-dystroglycanopathy, leading us to stand chicken as a useful animal model for molecular characterization of glycosyltransferases involved in the O-glycosylation of α-Dystroglycan and its role in embryonic development.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 478, Issue 3, 23 September 2016, Pages 1043-1048
Journal: Biochemical and Biophysical Research Communications - Volume 478, Issue 3, 23 September 2016, Pages 1043-1048
نویسندگان
Adriana Izquierdo-Lahuerta, Oscar de Luis, Francisco Gómez-Esquer, Jesús Cruces, Antonio Coloma,