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Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis
Author(s) -
Balaresque Patricia,
Bowden Georgina R.,
Parkin Emma J.,
Omran Ghada A.,
Heyer Evelyne,
QuintanaMurci Lluis,
Roewer Lutz,
Stoneking Mark,
Nasidze Ivan,
CarvalhoSilva Denise R.,
TylerSmith Chris,
de Knijff Peter,
Jobling Mark A.
Publication year - 2008
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20757
Subject(s) - biology , genetics , gene duplication , microsatellite , non allelic homologous recombination , haplotype , haplogroup , homologous chromosome , homologous recombination , segmental duplication , population , y chromosome , gene , allele , recombination , genetic recombination , gene family , genome , demography , sociology
The human Y chromosome shows frequent structural variants, some of which are selectively neutral, while others cause impaired fertility due to the loss of spermatogenic genes. The large‐scale use of multiple Y‐chromosomal microsatellites in forensic and population genetic studies can reveal such variants, through the absence or duplication of specific markers in haplotypes. We describe Y chromosomes in apparently normal males carrying null and duplicated alleles at the microsatellite DYS448, which lies in the proximal part of the azoospermia factor c ( AZFc ) region, important in spermatogenesis, and made up of “ampliconic” repeats that act as substrates for nonallelic homologous recombination (NAHR). Physical mapping in 26 DYS448 deletion chromosomes reveals that only three cases belong to a previously described class, representing independent occurrences of an∼1.5‐Mb deletion mediated by recombination between the b1 and b3 repeat units. The remainder belong to five novel classes; none appears to be mediated through homologous recombination, and all remove some genes, but are likely to be compatible with normal fertility. A combination of deletion analysis with binary‐marker and microsatellite haplotyping shows that the 26 deletions represent nine independent events. Nine DYS448 duplication chromosomes can be explained by four independent events. Some lineages have risen to high frequency in particular populations, in particular a deletion within haplogroup (hg) C * (xC3a,C3c) found in 18 Asian males. The nonrandom phylogenetic distribution of duplication and deletion events suggests possible structural predisposition to such mutations in hgs C and G. Hum Mutat 0, 1–10, 2008. © 2008 Wiley‐Liss, Inc.