کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5908015 | 1160948 | 2008 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
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![عکس صفحه اول مقاله: Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation](/preview/png/5908015.png)
چکیده انگلیسی
While there have been significant advances in understanding the genetic etiology of human hair loss over the previous decade, there remain a number of hereditary disorders for which a causative gene has yet to be identified. We studied a large, consanguineous Brazilian family that presented with woolly hair at birth that progressed to severe hypotrichosis by the age of 5, in which 6 of the 14 offspring were affected. After exclusion of known candidate genes, a genome-wide scan was performed to identify the disease locus. Autozygosity mapping revealed a highly significant region of extended homozygosity (lod score of 10.41) that contained a haplotype with a linkage lod score of 3.28. Results of these two methods defined a 9-Mb region on chromosome 13q14.11-q14.2. The interval contains the P2RY5 gene, in which we recently identified pathogenic mutations in several families of Pakistani origin affected with autosomal recessive woolly and sparse hair. After the exclusion of several other candidate genes, we sequenced the P2RY5 gene and identified a homozygous mutation (C278Y) in all affected individuals in this family. Our findings show that mutations in P2RY5 display variable expressivity, underlying both hypotrichosis and woolly hair, and underscore the essential role of P2RY5 in the tissue integrity and maintenance of the hair follicle.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Genomics - Volume 92, Issue 5, November 2008, Pages 273-278
Journal: Genomics - Volume 92, Issue 5, November 2008, Pages 273-278
نویسندگان
Lynn Petukhova, Edilson C. Jr., Amalia Martinez-Mir, Anna Vitebsky, Lina G. dos Santos, Lawrence Shapiro, Chad Haynes, Derek Gordon, Yutaka Shimomura, Angela M. Christiano,