AZF1

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azoospermia factor 1
Identifiers
Symbol AZF1
Alt. Symbols AZF
Entrez 560
HUGO 908
Other data
Locus Chr. Y q11

AZF is an acronym for a region on the human male Y chromosome called the AZoospermia Factor.[1] Characterization of this gene has been important in understanding male infertility.[2] AZF1 is synonymous with AZFa, an older term. Possible alias terms include AZFA and SP3. AZF is the term provided by the HUGO Gene Nomenclature Committee ([1]).

[edit] AZF1

AZF1 (Azoospermia Factor 1) gene is likely located in the 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.[3]

AZF1 genes are likely involved in spermatogenesis in the testes. Mutations or deletions in the AZF genes may be a cause or contributing factor in male infertility.

[edit] 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.

[edit] 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. ^ 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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