Abstract
We have detected deletions of a Y-specific microsatellite marker, Yfm1, located on the Y chromosome (Yq) within interval 6 and near the DAZ (deleted in azoospermia) genes, in 9/89 oligospermic and 17/68 azoospermic Japanese men. No Yfm1 deletions were detected in the 150 normal fertile males examined as controls. Yfm1 deletions in the oligo- and azoospermic males were associated with other deletions that removed entire DAZ genes in those infertile men. These deletions indicated that all Yfm1 loci are located within azoospermia factor c (AZFc) in interval 6 on the long arm of the Y chromosome. Mapping Yfm1 on the Y chromosome using the draft sequence of the human genome revealed that at least three Yfm1 loci are located within about 25–30 kbp of the DAZ genes. Moreover, the Yfm1 marker showed the least number of copies in Japanese males derived from a Y chromosomal lineage called haplotype II, defined by having the Y Alu polymorphism (YAP) insertion. Males from this haplotype II lineage are known from our previous studies to have lower spermatogenic abilities, with higher rates of oligo- and azoospermia than other haplotypes. The least number of Yfm1 loci, whose copy number may correspond to that of the DAZ genes, may be a risk factor predisposing an individual to azoospermia or oligospermia.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: October 26, 2001 / Accepted: February 12, 2002
Rights and permissions
About this article
Cite this article
Ewis, A., Lee, J., Shinka, T. et al. Microdeletions of a Y-specific marker, Yfm1, and implications for a role in spermatogenesis. J Hum Genet 47, 257–261 (2002). https://doi.org/10.1007/s100380200035
Issue Date:
DOI: https://doi.org/10.1007/s100380200035
This article is cited by
-
Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men
Journal of Assisted Reproduction and Genetics (2012)
-
Prospective assessment of Y-chromosome microdeletions and reproductive outcomes among infertile couples of Japanese and African origin
Journal of Experimental & Clinical Assisted Reproduction (2005)
-
Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection
Nature Genetics (2003)