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The Genetic Basis of Male Infertility pp 211–232Cite as

The Human Y Chromosome and Male Infertility

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Part of the book series: Results and Problems in Cell Differentiation ((RESULTS,volume 28))

Abstract

Although most of the human Y does not normally recombine with the X chromosome, there are two limited regions of sequence identity with the X that permit pairing and recombination during male meiosis (see Rappold 1993). These are the pseudoautosomal regions located at the distal portions of the short and long arms of the Y chromosome. The Yp pseudoautosomal region consists of 2.6 Mb. Absence of this region is associated with short stature, and male infertility. During meiotic prophase, germ cells require the Y chromosome as a pairing partner for the X. In the absence of pairing, caused by deletions of the pseudoautosomal region, germ cells undergo meiotic arrest resulting in azoospermia. The Yq pseudoautosomal region is 0.4 Mb in size and contains the genes for the interleukin 9 receptor (ILR9) and synaptobevine (SYBL1). Both genes have X homologues. The gene for ILR9 escapes X-inactivation and is expressed from the Y whereas SYBL1 is subject to X-inactivation and is not expressed from the Y chromosome (Vermeesch et al. 1997). The boundary between the pseudoautosomal region and the non-recombining region is defined by an Alu element of 303 bp followed by 220 bp with 78% identity, after which the sequences diverge completely (Ellis et al. 1989). This Alu repeat element inserted at a pre-existing boundary sometime after the Old World monkey and great ape lineages diverged. During male meiosis there is an obligatory crossing-over event between Xp and Yp pseudoautosomal regions which maintains X-Y identity. There is a gradient of recombination which decreases as one approaches the pseudoautosomal boundary (Rouyer et al. 1986).

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  1. Immunogénétique Humaine, Institut Pasteur, 25 rue du Dr Roux, 75724, Paris Cedex 15, France

    Ken McElreavey

  2. Andrology Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy

    Csilla Krausz

  3. Department of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, 6550 Fannin Street, Houston, Texas, 77030, USA

    Colin E. Bishop

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    Ken McElreavey

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McElreavey, K., Krausz, C., Bishop, C.E. (2000). The Human Y Chromosome and Male Infertility. In: McElreavey, K. (eds) The Genetic Basis of Male Infertility. Results and Problems in Cell Differentiation, vol 28. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-48461-5_9

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