Portal de investigación
Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies.
Autores de IIS La Fe
Abstract
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.
Datos de la publicación
- ISSN/ISSNe:
- 1755-8794, 1755-8794
- Tipo:
- Article
- Páginas:
- 54-54
- PubMed:
- 21092253
- Factor de Impacto:
- 2,166 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
BMC Medical Genomics BMC
Citas Recibidas en Web of Science: 17
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Cita
MARTÍNEZ F,MONFORT S,ROSELLÓ M,OLTRA S,BLESA D,QUIROGA R,MAYO S,ORELLANA C. Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies. BMC Med. Genomics. 2010. 3. p. 54-54. IF:3,766. (2).