Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection

S Repping, H Skaletsky, L Brown, SKM van Daalen… - Nature …, 2003 - nature.com
Many human Y-chromosomal deletions are thought to severely impair reproductive fitness,
which precludes their transmission to the next generation and thus ensures their rarity in the …

Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism

P Blanco, M Shlumukova, CA Sargent… - Journal of medical …, 2000 - jmg.bmj.com
The Y chromosome provides a unique opportunity to study mutational processes within the
human genome, decoupled from the confounding effects of interchromosomal …

Assembly of 43 human Y chromosomes reveals extensive complexity and variation

P Hallast, P Ebert, M Loftus, F Yilmaz, PA Audano… - Nature, 2023 - nature.com
The prevalence of highly repetitive sequences within the human Y chromosome has
prevented its complete assembly to date and led to its systematic omission from genomic …

The human Y chromosome: a masculine chromosome

MJ Noordam, S Repping - Current opinion in genetics & development, 2006 - Elsevier
Once considered to be a genetic wasteland of no scientific interest beyond sex
determination, the human Y chromosome has made a significant comeback in the past few …

High mutation rates have driven extensive structural polymorphism among human Y chromosomes

S Repping, SKM van Daalen, LG Brown, CM Korver… - Nature …, 2006 - nature.com
Although much structural polymorphism in the human genome has been catalogued,,,,, the
kinetics of underlying change remain largely unexplored. Because human Y chromosomes …

Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene

R Reijo, TY Lee, P Salo, R Alagappan, LG Brown… - Nature …, 1995 - nature.com
We have detected deletions of portions of the Y chromosome long arm in 12 of 89 men with
azoospermia (no sperm in semen). No Y deletions were detected in their male relatives or in …

A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region

S Repping, SKM van Daalen, CM Korver, LG Brown… - Genomics, 2004 - Elsevier
The human Y chromosome is replete with amplicons—very large, nearly identical repeats—
which render it susceptible to interstitial deletions that often cause spermatogenic failure …

Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis

P Balaresque, GR Bowden, EJ Parkin… - Human …, 2008 - Wiley Online Library
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 …

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men

T Kuroda-Kawaguchi, H Skaletsky, LG Brown… - Nature …, 2001 - nature.com
Deletions of the AZFc (azoospermia factor c) region of the Y chromosome are the most
common known cause of spermatogenic failure. We determined the complete nucleotide …

Consequences of Y chromosome microdeletions beyond male infertility

S Colaco, D Modi - Journal of assisted reproduction and genetics, 2019 - Springer
Purpose The human Y chromosome plays a central role in sex determination and
spermatogenesis. The azoospermia factor (AZF) loci on the Y chromosome contain genes …