The sequences of the human sex chromosomes.

Abstract:

:The sequences of both of the human sex chromosomes and of a substantial part of the chimpanzee Y chromosome have now been determined, and most of the protein-coding genes have been identified. The X chromosome codes for more than 800 proteins but the Y chromosome for only approximately 60, illustrating their very different evolutionary histories since their origin from an autosomal pair approximately 300 million years ago and explaining their differential importance in disease. These sequences have provided the basis for understanding normal patterns of variation, such as the distribution of SNPs, and patterns of linkage disequilibrium. In addition, they have been useful for identifying variants associated with simple Mendelian disorders such as microphthalmia or mental retardation, and more complex disorders such as osteoporosis.

journal_name

Curr Opin Genet Dev

authors

Ross MT,Bentley DR,Tyler-Smith C

doi

10.1016/j.gde.2006.04.006

subject

Has Abstract

pub_date

2006-06-01 00:00:00

pages

213-8

issue

3

eissn

0959-437X

issn

1879-0380

pii

S0959-437X(06)00067-0

journal_volume

16

pub_type

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