Y Chromosome

Abstract

The Y chromosome has a key role in human sex determination and carries the male sex‐determining gene, SRY. As a consequence of this function, it has unique genetic properties such as a large region that is haploid and escapes meiotic recombination, and unique physical properties such as low gene but high repeated sequence density. The sequence of the euchromatic half of the chromosome has been determined in one individual, and this is accelerating systematic studies of both sequence and structural variation in the population and their phenotypic consequences.

Keywords: Y chromosomal structure; male sex determination; SRY; male fertility; AZF

Figure 1.

The Y chromosome. Coordinates (left) are from Ensembl release 44 (April 2007). (a) Inheritance patterns; PAR, pseudoautosomal region. (b) Major cytogenetic divisions. (c) Genetic functions discussed in this article. AZF localizations are based on molecular mapping of deletions. (d) Banding pattern. Note that bands are only located approximately on the molecular map. (e) Genes relevant to the genetic functions discussed, identified by molecular methods. (f) Copy‐number variable regions found as polymorphisms in the population, with the genes or other sequences they contain indicated. (g) Inversion polymorphisms; the ‘+’ indicates that a complex set of inversions are found in the AZFc region.

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References

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Further Reading

Carvalho CMB and Santos FR (2005) Human Y‐chromosome variation and male dysfunction. Journal of Molecular and Genetic Medicine 1: 63–75.

Jobling MA and Tyler‐Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nature Reviews Genetics 4: 598–612.

Lahn BT, Pearson NM and Jegalian K (2001) The human Y chromosome, in the light of evolution. Nature Reviews Genetics 2: 207–216.

Page DC (2004) 2003 Curt Stern Award address, on low expectation exceeded; or, the genomic salvation of the Y chromosome. American Journal of Human Genetics 74: 399–402.

Ross MT, Bentley DR and Tyler‐Smith C (2006) The sequences of the human sex chromosomes. Current Opinion in Genetics and Development 16: 213–218.

Willard HF (2005) Tales of the Y chromosome. Nature 434: 267–268.

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How to Cite close
Tyler‐Smith, Chris(Dec 2007) Y Chromosome. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005796.pub2]