1. TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse.

    Embo Molecular Medicine 7(9):1198 (2015) PMID 26136358 PMCID PMC4568952

    Genome-wide recombination is essential for genome stability, evolution, and speciation. Mouse Tex11, an X-linked meiosis-specific gene, promotes meiotic recombination and chromosomal synapsis. Here, we report that TEX11 is mutated in infertile men with non-obstructive azoospermia and that an ana...
  2. AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.

    The American Journal of Human Genetics 91(5):890 (2012) PMID 23103232 PMCID PMC3487143

    Deletions involving the Y chromosome's AZFc region are the most common known genetic cause of severe spermatogenic failure (SSF). Six recurrent interstitial deletions affecting the region have been reported, but their population genetics are largely unexplored. We assessed the deletions' prevale...
  3. Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection.

    The American Journal of Human Genetics 85(6):923 (2009) PMID 20004767 PMCID PMC2790577

    Y-linked single-nucleotide polymorphisms (SNPs) have served as powerful tools for reconstructing the worldwide genealogy of human Y chromosomes and for illuminating patrilineal relationships among modern human populations. However, there has been no systematic, worldwide survey of sequence varia...
  4. High mutation rates have driven extensive structural polymorphism among human Y chromosomes.

    Nature Genetics 38(4):463 (2006) PMID 16501575

    Although much structural polymorphism in the human genome has been catalogued, the kinetics of underlying change remain largely unexplored. Because human Y chromosomes are clonally inherited, it has been possible to capture their detailed relationships in a robust, worldwide genealogical tree. E...
  5. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.

    Genomics 83(6):1046 (2004) PMID 15177557

    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. Here we describe a recurrent, 1.8-Mb deletion that removes half of the azoospermia factor c (AZFc) region, including...
  6. Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

    Nature 423(6942):873 (2003) PMID 12815433

    Eight palindromes comprise one-quarter of the euchromatic DNA of the male-specific region of the human Y chromosome, the MSY. They contain many testis-specific genes and typically exhibit 99.97% intra-palindromic (arm-to-arm) sequence identity. This high degree of identity could be interpreted a...