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Gene Review

ZFY  -  zinc finger protein, Y-linked

Homo sapiens

Synonyms: ZNF911, Zinc finger Y-chromosomal protein
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Disease relevance of ZFY


High impact information on ZFY


Biological context of ZFY

  • Recently, a candidate for the testis-determining gene (ZFY, Y-borne zinc-finger protein) has been cloned [9].
  • In these individuals, the male phenotype could be explained by a mutation in a gene 'downstream' of ZFY in the sex-determining hierarchy; but in that case there should be no exchange of material between the X and Y chromosomes [8].
  • Sequences homologous to ZFY, a candidate human sex-determining gene, are autosomal in marsupials [9].
  • The ZFY probe detects a male-specific (Y-linked) sequence in DNA from a range of eutherian mammals, as well as an X-linked sequence (ZFX) which maps to the human X chromosome [9].
  • We have isolated cDNA clones of ZFY and its homologue on the X chromosome, ZFX [10].

Anatomical context of ZFY

  • Significantly, the 3-kb ZFY transcript was also detected in other mammalian adult testes [11].
  • ZFY and ZFX are transcribed in a wide variety of XY and (in the case of ZFX) XX cell lines [5].
  • None of the sample blanks showed any PCR product, all 90 of the karyotypically XY cells were correctly genotyped as ZFX/ZFY, all 83 of the 84 XX cells that amplified were correctly genotyped as ZFX only, and analyses of all same-embryo blastomeres were completely concordant (100% specificity) [12].
  • Here we show that two Y-chromosomal genes involved in sex determination of the gonad, SRY and ZFY, are transcribed in hypothalamus, and frontal and temporal cortex of the adult male human brain [13].
  • The patients' father (46, XY, no mosaicism detected in peripheral blood lymphocytes) was positive for SRY and ZFY sequences [14].

Associations of ZFY with chemical compounds

  • Substitution of Phe by leucine in a ZFY peptide permits Zn(2+)-dependent folding [15].

Other interactions of ZFY


Analytical, diagnostic and therapeutic context of ZFY


  1. ZFY gene expression and retention in human prostate adenocarcinoma. Tricoli, J.V., Bracken, R.B. Genes Chromosomes Cancer (1993) [Pubmed]
  2. Paternal transcripts for glucose-6-phosphate dehydrogenase and adenosine deaminase are first detectable in the human preimplantation embryo at the three- to four-cell stage. Taylor, D.M., Ray, P.F., Ao, A., Winston, R.M., Handyside, A.H. Mol. Reprod. Dev. (1997) [Pubmed]
  3. On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. Grimm, T., Meng, G., Liechti-Gallati, S., Bettecken, T., Müller, C.R., Müller, B. J. Med. Genet. (1994) [Pubmed]
  4. Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism. Mendes, J.R., Strufaldi, M.W., Delcelo, R., Moisés, R.C., Vieira, J.G., Kasamatsu, T.S., Galera, M.F., Andrade, J.A., Verreschi, I.T. Clin. Endocrinol. (Oxf) (1999) [Pubmed]
  5. ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. Schneider-Gädicke, A., Beer-Romero, P., Brown, L.G., Nussbaum, R., Page, D.C. Cell (1989) [Pubmed]
  6. The sex-determining region of the mouse Y chromosome encodes a protein with a highly acidic domain and 13 zinc fingers. Mardon, G., Page, D.C. Cell (1989) [Pubmed]
  7. Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Page, D.C., Fisher, E.M., McGillivray, B., Brown, L.G. Nature (1990) [Pubmed]
  8. Genetic evidence that ZFY is not the testis-determining factor. Palmer, M.S., Sinclair, A.H., Berta, P., Ellis, N.A., Goodfellow, P.N., Abbas, N.E., Fellous, M. Nature (1989) [Pubmed]
  9. Sequences homologous to ZFY, a candidate human sex-determining gene, are autosomal in marsupials. Sinclair, A.H., Foster, J.W., Spencer, J.A., Page, D.C., Palmer, M., Goodfellow, P.N., Graves, J.A. Nature (1988) [Pubmed]
  10. Comparison of human ZFY and ZFX transcripts. Palmer, M.S., Berta, P., Sinclair, A.H., Pym, B., Goodfellow, P.N. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  11. The putative testis-determining factor and related genes are expressed as discrete-sized transcripts in adult gonadal and somatic tissues. Lau, Y.F., Chan, K.M. Am. J. Hum. Genet. (1989) [Pubmed]
  12. Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. Chong, S.S., Kristjansson, K., Cota, J., Handyside, A.H., Hughes, M.R. Hum. Mol. Genet. (1993) [Pubmed]
  13. The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain. Mayer, A., Lahr, G., Swaab, D.F., Pilgrim, C., Reisert, I. Neurogenetics (1998) [Pubmed]
  14. XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. Barbosa, A.S., Ferraz-Costa, T.E., Semer, M., Liberman, B., Moreira-Filho, C.A. Hum. Genet. (1995) [Pubmed]
  15. The hidden thermodynamics of a zinc finger. Lachenmann, M.J., Ladbury, J.E., Phillips, N.B., Narayana, N., Qian, X., Weiss, M.A. J. Mol. Biol. (2002) [Pubmed]
  16. Molecular genetics of sex determination in channel catfish: studies on SRY, ZFY, Bkm, and human telomeric repeats. Tiersch, T.R., Simco, B.A., Davis, K.B., Wachtel, S.S. Biol. Reprod. (1992) [Pubmed]
  17. 45,X/46,X,idic(Yq) mosaicism: clinical, cytogenetic, and molecular studies in four individuals. Teraoka, M., Narahara, K., Yokoyama, Y., Tsuji, K., Kikkawa, K., Ito, S., Koyama, K., Seino, Y. Am. J. Med. Genet. (1998) [Pubmed]
  18. Zfx mutation results in small animal size and reduced germ cell number in male and female mice. Luoh, S.W., Bain, P.A., Polakiewicz, R.D., Goodheart, M.L., Gardner, H., Jaenisch, R., Page, D.C. Development (1997) [Pubmed]
  19. Evidence for distinguishable transcripts of the putative testis determining gene (ZFY) and mapping of homologous cDNA sequences to chromosomes X,Y and 9. Affara, N.A., Chambers, D., O'Brien, J., Habeebu, S.S., Kalaitsidaki, M., Bishop, C.E., Ferguson-Smith, M.A. Nucleic Acids Res. (1989) [Pubmed]
  20. Regional assignments of the zinc finger Y-linked gene (ZFY) and related sequences on human and mouse chromosomes. Leung, W.Y., Lindgren, V., Lau, Y.F., Yang-Feng, Y.L. Cytogenet. Cell Genet. (1990) [Pubmed]
  21. An X-linked zinc finger gene mapping to Xq21.1-q21.3 closely related to ZFX and ZFY: possible origins from a common ancestral gene. Lloyd, S.L., Sargent, C.A., Chalmers, J., Lim, E., Habeebu, S.S., Affara, N.A. Nucleic Acids Res. (1991) [Pubmed]
  22. Sequence analysis of the ZFY and Sox genes in the turtle, Chelydra serpentina. Spotila, L.D., Kaufer, N.F., Theriot, E., Ryan, K.M., Penick, D., Spotila, J.R. Mol. Phylogenet. Evol. (1994) [Pubmed]
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