The DNA sequence and comparative analysis of human chromosome 5.
Nature
; 431(7006): 268-74, 2004 Sep 16.
Article
en En
| MEDLINE
| ID: mdl-15372022
ABSTRACT
Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 5
/
Análisis de Secuencia de ADN
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Nature
Año:
2004
Tipo del documento:
Article
País de afiliación:
Estados Unidos