Copy number variation in the human Y chromosome in the UK population

Wei Wei, Tomas Fitzgerald, Qasim Ayub, Andrea Massaia, Blair B. Smith, Anna A. Dominiczak, Andrew A. Morris, David D. Porteous, Matthew E. Hurles, Chris Tyler-Smith, Yali Xue (Lead / Corresponding author)

    Research output: Contribution to journalArticle

    13 Citations (Scopus)

    Abstract

    We have assessed copy number variation (CNV) in the male-specific part of the human Y chromosome discovered by array comparative genomic hybridization (array-CGH) in 411 apparently healthy UK males, and validated the findings using SNP genotype intensity data available for 149 of them. After manual curation taking account of the complex duplicated structure of Y-chromosomal sequences, we discovered 22 curated CNV events considered validated or likely, mean 0.93 (range 0-4) per individual. 16 of these were novel. Curated CNV events ranged in size from <1 kb to >3 Mb, and in frequency from 1/411 to 107/411. Of the 24 protein-coding genes or gene families tested, nine showed CNV. These included a large duplication encompassing the AMELY and TBL1Y genes that probably has no phenotypic effect, partial deletions of the TSPY cluster and AZFc region that may influence spermatogenesis, and other variants with unknown functional implications, including abundant variation in the number of RBMY genes and/or pseudogenes, and a novel complex duplication of two segments overlapping the AZFa region and including the 3' end of the UTY gene.

    Original languageEnglish
    Pages (from-to)789-800
    Number of pages12
    JournalHuman Genetics
    Volume134
    Issue number7
    Early online date10 May 2015
    DOIs
    Publication statusPublished - Jul 2015

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    Chromosomes, Human, Y
    Population
    Genes
    Pseudogenes
    Comparative Genomic Hybridization
    Spermatogenesis
    Single Nucleotide Polymorphism
    Genotype
    Proteins

    Cite this

    Wei, W., Fitzgerald, T., Ayub, Q., Massaia, A., Smith, B. B., Dominiczak, A. A., ... Xue, Y. (2015). Copy number variation in the human Y chromosome in the UK population. Human Genetics, 134(7), 789-800. https://doi.org/10.1007/s00439-015-1562-5
    Wei, Wei ; Fitzgerald, Tomas ; Ayub, Qasim ; Massaia, Andrea ; Smith, Blair B. ; Dominiczak, Anna A. ; Morris, Andrew A. ; Porteous, David D. ; Hurles, Matthew E. ; Tyler-Smith, Chris ; Xue, Yali. / Copy number variation in the human Y chromosome in the UK population. In: Human Genetics. 2015 ; Vol. 134, No. 7. pp. 789-800.
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    abstract = "We have assessed copy number variation (CNV) in the male-specific part of the human Y chromosome discovered by array comparative genomic hybridization (array-CGH) in 411 apparently healthy UK males, and validated the findings using SNP genotype intensity data available for 149 of them. After manual curation taking account of the complex duplicated structure of Y-chromosomal sequences, we discovered 22 curated CNV events considered validated or likely, mean 0.93 (range 0-4) per individual. 16 of these were novel. Curated CNV events ranged in size from <1 kb to >3 Mb, and in frequency from 1/411 to 107/411. Of the 24 protein-coding genes or gene families tested, nine showed CNV. These included a large duplication encompassing the AMELY and TBL1Y genes that probably has no phenotypic effect, partial deletions of the TSPY cluster and AZFc region that may influence spermatogenesis, and other variants with unknown functional implications, including abundant variation in the number of RBMY genes and/or pseudogenes, and a novel complex duplication of two segments overlapping the AZFa region and including the 3' end of the UTY gene.",
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    Wei, W, Fitzgerald, T, Ayub, Q, Massaia, A, Smith, BB, Dominiczak, AA, Morris, AA, Porteous, DD, Hurles, ME, Tyler-Smith, C & Xue, Y 2015, 'Copy number variation in the human Y chromosome in the UK population', Human Genetics, vol. 134, no. 7, pp. 789-800. https://doi.org/10.1007/s00439-015-1562-5

    Copy number variation in the human Y chromosome in the UK population. / Wei, Wei; Fitzgerald, Tomas; Ayub, Qasim; Massaia, Andrea; Smith, Blair B.; Dominiczak, Anna A.; Morris, Andrew A.; Porteous, David D.; Hurles, Matthew E.; Tyler-Smith, Chris; Xue, Yali (Lead / Corresponding author).

    In: Human Genetics, Vol. 134, No. 7, 07.2015, p. 789-800.

    Research output: Contribution to journalArticle

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    AU - Ayub, Qasim

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    AU - Morris, Andrew A.

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    Wei W, Fitzgerald T, Ayub Q, Massaia A, Smith BB, Dominiczak AA et al. Copy number variation in the human Y chromosome in the UK population. Human Genetics. 2015 Jul;134(7):789-800. https://doi.org/10.1007/s00439-015-1562-5