A novel partial deletion of the Y chromosome azoospermia factor c region is caused by non-homologous recombination between palindromes and may be associated with increased sperm counts | Zendy

Michiel J. Noordam | Zendy; Saskia K.M. van Daalen | Zendy; Suzanne Hovingh | Zendy; Cindy M. Korver | Zendy; Fulco van der Veen | Zendy; Sjoerd Repping | Zendy

Open Access

A novel partial deletion of the Y chromosome azoospermia factor c region is caused by non-homologous recombination between palindromes and may be associated with increased sperm counts

Author(s) -

Michiel J. Noordam,

Saskia K.M. van Daalen,

Suzanne Hovingh,

Cindy M. Korver,

Fulco van der Veen,

Sjoerd Repping

Publication year - 2011

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/deq386

Subject(s) - y chromosome , homologous chromosome , biology , homologous recombination , genetics , recombination , azoospermia , azoospermia factor , haplotype , chromosome , sperm , gene , microbiology and biotechnology , infertility , genotype , pregnancy

The male-specific region of the human Y chromosome (MSY) contains multiple testis-specific genes. Most deletions in the MSY lead to inadequate or absent sperm production. Nearly all deletions occur via homologous recombination between amplicons. Previously, we identified two P5/distal-P1 deletions that did not arise via homologous recombination but most probably via non-homologous recombination (NHR) between palindromes. In the current study, we set out to identify deletions in the azoospermia factor c (AZFc) region caused by NHR between palindromes.

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