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Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants.

Abstract：

:An earlier search in the human, mouse and rat genomes for sequences that are 100% conserved in orthologous segments and > or = 200 bp in length identified 481 distinct sequences. These human-mouse-rat sequences, which represent ultraconserved elements (UCEs), are believed to be important for functions involving DNA binding, RNA processing and the regulation of transcription and development. In vivo and additional computational studies of UCEs and other highly conserved sequences are consistent with these functional associations, with some observations indicating enhancer-like activity for these elements. Here, we show that UCEs are significantly depleted among segmental duplications and copy number variants. Notably, of the UCEs that are found in segmental duplications or copy number variants, the majority overlap exons, indicating, along with other findings presented, that UCEs overlapping exons represent a distinct subset.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Derti A,Roth FP,Church GM,Wu CT

doi

10.1038/ng1888

subject

Has Abstract

pub_date

2006-10-01 00:00:00

pages

1216-20

issue

10

eissn

1061-4036

issn

1546-1718

pii

ng1888

journal_volume

38

pub_type

杂志文章

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