第五章 Copy number variation on the human Y chromosome.pdfVIP

Characterization of Copy Number Variations in the Human Genome Cytogenet Genome Res 123:253–262 (2008) DOI: 10.1159/000184715 Copy number variation on the human Y chromosome M.A. Jobling Department of Genetics, University of Leicester, Leicester (UK) Accepted in revised form for publication by H. Kehrer-Sawatzki and D.N. Cooper, 20 June 2008. Abstract. The Y chromosome is unusual in being consti- resolved Y phylogeny allows their mutational history to be tutively haploid and escaping recombination for most of its deciphered and an estimation of mutation rate. The func- length. This has led to a correspondingly unusual genomic tional consequences of variants are moderated by the spe- landscape, rich in segmental duplications, which provide a cialization of the chromosome and the presence of func- potent environment for the generation of copy number vari- tionally equivalent X-chromosomal homologues for some ation (CNV). Interest in the chromosome comes from di- genes. However, deletions of the AZFa , b , and c regions verse fields, including infertility research, population ge- cause impaired spermatogenesis, while partial deletions netics, forensics, and genealogy. Together with inclusion in and duplications within these regions, and deletions and more systematic surveys, this has led to the ascertainment duplications elsewhere, may be selectively neutral or have of a variety of CNVs. Assessment in the context of the well- subtle phenotypes. Copyright © 2009 S. Karger AG, Basel The Y chrom