AZF1

AZF (AZoospermia Factor) is a region on the human male Y chromosome.[1] Deletions in this gene are associated with inability to produce sperm.[2] Regions within the AZF region are AZFa (sometimes AZF1), AZFb and AZFc. AZF is the term used by the HUGO Gene Nomenclature Committee [3].

AZF1

AZF1 (Azoospermia Factor 1) gene is likely located in the euchromatic part of the long arm in Yq11.23. AZF1 is 792kb long and just distal to the centromere of the Y chromosome.[4]

AZF1 genes are involved in spermatogenesis in the testes. Mutations or deletions in the AZF genes are associated with inability or lessened ability to create sperm. Deletions in the USP9Y gene, which is located within AZF1, are usually but not always associated with inability to form sperm.

AZF2

Originally, an AZFb and AZFc genes were identified and thought to be separate regions. They were later found to be overlapping and are now referred to as AZF2.

See also

* USP9Y

References

1. ^ Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates R, Page D, Rozen S (2002). "Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure". Am J Hum Genet 71 (4): 906–22. doi:10.1086/342928. PMID 12297986.
2. ^ Ioulianos A, Sismani C, Fourouclas N, Patroclou T, Sergiou C, Patsalis P (2002). "A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design". Int J Androl 25 (3): 153–8. doi:10.1046/j.1365-2605.2002.00340.x. PMID 12031043.
3. ^ [1]
4. ^ Vogt P (2005). "AZF deletions and Y chromosomal haplogroups: history and update based on sequence". Hum Reprod Update 11 (4): 319–36. doi:10.1093/humupd/dmi017. PMID 15890785.

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