Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies.

ABSTRACT:

Background

The ultraconserved elements (UCEs) are defined as stretches of at least 200 base pairs of human DNA that match identically with corresponding regions in the mouse and rat genomes, albeit their real significance remains an intriguing issue. These elements are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and development. Interestingly, human UCEs have been reported to be strongly depleted among segmental duplications and benign copy number variants (CNVs). However no comprehensive survey of a putative enrichment of these elements among pathogenic dose variants has yet been reported.

Results

A survey for UCEs was performed among the 26 cryptic genomic rearrang

SUBMITTER: Martinez F 

PROVIDER: S-EPMC3002293 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature