This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF.[4]
Humans express a single ZFY gene with two splice variants. While mice express two paralogous copies, Zfy1 and Zfy2.[5] During spermatogenesis, wrongful expression of either Zfy1 or Zfy2 results in programmed cell death, apoptosis, at the mid-pachytene checkpoint. In mice, Zfy genes are necessary for meiotic sex chromosome inactivation (MSCI). In Zfy knockout spermatocytes, sex chromosomes are incorrectly silenced. Thus, Zfy performs three functions at the mid-pachytene checkpoint: (1) promote MSCI, (2) monitor MSCI progress, and (3) execute cells, via apoptosis, that fail to undergo MSCI.[5]
In humans, ZFY is most broadly expresses in the testis and prostate. However, 20 other tissues also express ZFY, such as esophagus, urinary bladder, bone marrow, small intestine, appendix and gall bladder.[6]
Disorders associated with the ZFY gene include campomelic dysplasia, cystadenofibroma, and Frasier syndrome.[7]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Muller G, Schempp W (Jun 1989). "Mapping the human ZFX locus to Xp21.3 by in situ hybridization". Hum Genet. 82 (1): 82–4. doi:10.1007/BF00288279. PMID2497060.
Merchant-Larios H, Moreno-Mendoza N (2002). "Onset of sex differentiation: dialog between genes and cells". Arch. Med. Res. 32 (6): 553–8. doi:10.1016/S0188-4409(01)00317-4. PMID11750730.
Kochoyan M, Havel TF, Nguyen DT, et al. (1991). "Alternating zinc fingers in the human male associated protein ZFY: 2D NMR structure of an even finger and implications for "jumping-linker" DNA recognition". Biochemistry. 30 (14): 3371–86. doi:10.1021/bi00228a004. PMID1849423.
Kochoyan M, Keutmann HT, Weiss MA (1991). "Alternating zinc fingers in the human male associated protein ZFY: refinement of the NMR structure of an even finger by selective deuterium labeling and implications for DNA recognition". Biochemistry. 30 (29): 7063–72. doi:10.1021/bi00243a005. PMID1854720.
Page DC, Mosher R, Simpson EM, et al. (1988). "The sex-determining region of the human Y chromosome encodes a finger protein". Cell. 51 (6): 1091–104. doi:10.1016/0092-8674(87)90595-2. PMID3690661.
Tricoli JV, Bracken RB (1993). "ZFY gene expression and retention in human prostate adenocarcinoma". Genes Chromosomes Cancer. 6 (2): 65–72. doi:10.1002/gcc.2870060202. PMID7680890.
Erlandsson R, Wilson JF, Pääbo S (2000). "Sex chromosomal transposable element accumulation and male-driven substitutional evolution in humans". Mol. Biol. Evol. 17 (5): 804–12. doi:10.1093/oxfordjournals.molbev.a026359. PMID10779541.
Mittwoch U (2001). "Three thousand years of questioning sex determination". Cytogenet. Cell Genet. 91 (1–4): 186–91. doi:10.1159/000056842. PMID11173854.
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, et al. (2003). "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes". Nature. 423 (6942): 825–37. doi:10.1038/nature01722. PMID12815422.
Agate RJ, Choe M, Arnold AP (2004). "Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches". Mol. Biol. Evol. 21 (2): 384–96. doi:10.1093/molbev/msh027. PMID14660691.
1klr: NMR Structure of the ZFY-6T[Y10F] Zinc Finger
5znf: ALTERNATING ZINC FINGERS IN THE HUMAN MALE ASSOCIATED PROTEIN ZFY: 2D NMR STRUCTURE OF AN EVEN FINGER AND IMPLICATIONS FOR ""JUMPING-LINKER"" DNA RECOGNITION