Ross Mark T, Bentley David R, Tyler-Smith Chris
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Curr Opin Genet Dev. 2006 Jun;16(3):213-8. doi: 10.1016/j.gde.2006.04.006. Epub 2006 May 2.
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.
现在，人类两条性染色体以及黑猩猩Y染色体相当一部分的序列都已确定，并且大部分蛋白质编码基因也已被识别。X染色体编码800多种蛋白质，而Y染色体仅编码约60种，这说明了自大约3亿年前它们从一对常染色体起源以来截然不同的进化历程，也解释了它们在疾病中的不同重要性。这些序列为理解正常变异模式（如单核苷酸多态性的分布）以及连锁不平衡模式提供了基础。此外，它们还有助于识别与小眼症或智力迟钝等简单孟德尔疾病以及骨质疏松症等更复杂疾病相关的变异。
