Identification of human haploinsufficient genes and their genomic proximity to segmental duplications
نویسندگان
چکیده
منابع مشابه
A Parsimony Approach to Analysis of Human Segmental Duplications
Segmental duplications are abundant in the human genome, but their evolutionary history is not well-understood. The mystery surrounding them is due in part to their complex organization; many segmental duplications are mosaic patterns of smaller repeated segments, or duplicons. A two-step model of duplication has been proposed to explain these mosaic patterns. In this model, duplicons are copie...
متن کاملRecent segmental duplications in the human genome.
Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun s...
متن کاملfunctional study of p0 proteins of two cereal yellow dwarf viruses (cydv-rpv and cydv-rps) and identification of their cellular partner
نقش سرکوبگری پروتئین p0 در دو پولروویروس کوتولگی زردی غلات cydv-rpv) و (cydv-rps، متفاوت در شدت بیماریزایی، مورد مطالعه قرار گرفت. نتایج نشان داد که هر دو پروتئین p0 p0cy-rpv) و (p0cy-rps قادر به سرکوب خاموشی آر ان ای ایجاد شده توسط ترادف های تراژن سنس و تکرار معکوس در n. benthamiana هستند. نشان داده شد که هر دو پروتئین p0 می توانند تخریب پروتئین argonaute-1 را تسهیل کنند. علاوه بر این، تمایل م...
Parsimony and likelihood reconstruction of human segmental duplications
MOTIVATION Segmental duplications > 1 kb in length with >or= 90% sequence identity between copies comprise nearly 5% of the human genome. They are frequently found in large, contiguous regions known as duplication blocks that can contain mosaic patterns of thousands of segmental duplications. Reconstructing the evolutionary history of these complex genomic regions is a non-trivial, but importan...
متن کاملSignals of Historical Interlocus Gene Conversion in Human Segmental Duplications
Standard methods of DNA sequence analysis assume that sequences evolve independently, yet this assumption may not be appropriate for segmental duplications that exchange variants via interlocus gene conversion (IGC). Here, we use high quality multiple sequence alignments from well-annotated segmental duplications to systematically identify IGC signals in the human reference genome. Our analysis...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2008
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2008.111