کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5908045 | 1160971 | 2006 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A 360-kb interchromosomal duplication of the human HYDIN locus
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
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چکیده انگلیسی
The HYDIN gene located in human chromosome band 16q22.2 is a large gene encompassing 423Â kb of genomic DNA that has been suggested as a candidate for an autosomal recessive form of congenital hydrocephalus. We have found that the human HYDIN locus has been very recently duplicated, with a nearly identical 360-kb paralogous segment inserted on chromosome 1q21.1. The duplication, among the largest interchromosomal segmental duplications described in humans, is not accounted for in the current human genome assembly and appears to be part of a greater than 550-kb contig that must lie within 1 of the 11 sequence gaps currently remaining in 1q21.1. Both copies of the HYDIN gene are expressed in alternatively spliced transcripts. Elucidation of the role of HYDIN in human disease susceptibility will require careful discrimination among the paralogous copies.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Genomics - Volume 88, Issue 6, December 2006, Pages 762-771
Journal: Genomics - Volume 88, Issue 6, December 2006, Pages 762-771
نویسندگان
Norman A. Doggett, Gary Xie, Linda J. Meincke, Robert D. Sutherland, Mark O. Mundt, Nicolas S. Berbari, Brian E. Davy, Michael L. Robinson, M. Katharine Rudd, James L. Weber, Raymond L. Stallings, Cliff Han,