Human Molecular Genetics, Vol 5, 1695-1701, Copyright © 1996 by Oxford University Press
MH Jones, RA Furlong, H Burkin, IJ Chalmers, GM Brown, O Khwaja and NA Affara
EST 221 derived from human adult testis detects homology to the Drosophila
fat facets gene (fat) and has related sequences on both the X and Y
chromosomes mapping to Xp11.4 and Yq11.2 respectively. These two loci have
been termed DFFRX and DFFRY for Drosophila fat facets related X and Y. The
major transcript detected by EST 221 is-8 kb in size and is expressed
widely in a range of 16 human adult tissues. RT- PCR analysis of 13
different human embryonic tissues with primers specific for the X and Y
sequences demonstrates that both loci are expressed in developing tissues
and quantitative RT-PCR of lymphoblastoid cell lines carrying different
numbers of X chromosomes reveals that the X-linked gene escapes
X-inactivation. The amino acid sequence (2547 residues) of the complete
open reading frame of the X gene has 44% identity and 88% similarity to the
Drosophila sequence and contains the conserved Cys and His domains
characteristic of deubiquitinating enzymes, suggesting its biochemical
function may be the hydrolysis of ubiquitin from protein-ubiquitin
conjugates. The requirement of faf for normal oocyte development in
Drosophila combined with the map location and escape from X-inactivation of
DFFRX raises the possibility that the human homologue plays a role in the
defects of oocyte proliferation and subsequent gonadal degeneration found
in Turner syndrome.
ARTICLES
The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2 [published erratum appears in Hum Mol Genet 1997 Feb;6(2):334-5]
University of Cambridge, Department of Pathology, UK.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  E. A.H. Knauff, L. Franke, M. A. van Es, L. H. van den Berg, Y. T. van der Schouw, J. S.E. Laven, C. B. Lambalk, A. Hoek, A. J. Goverde, S. Christin-Maitre, et al. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene Hum. Reprod., September 1, 2009; 24(9): 2372 - 2378. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. A. Weiss, S. Purcell, S. Waggoner, K. Lawrence, D. Spektor, M. J. Daly, P. Sklar, and D. Skuse Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome Hum. Mol. Genet., January 1, 2007; 16(1): 107 - 113. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Y. Fechner, M. L. Davenport, R. L. Qualy, J. L. Ross, D. F. Gunther, E. A. Eugster, C. Huseman, A. J. Zagar, C. A. Quigley, and on behalf of the Toddler Turner Study Group Differences in Follicle-Stimulating Hormone Secretion between 45,X Monosomy Turner Syndrome and 45,X/46,XX Mosaicism Are Evident at an Early Age J. Clin. Endocrinol. Metab., December 1, 2006; 91(12): 4896 - 4902. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Q. P. Vong, K. Cao, H. Y. Li, P. A. Iglesias, and Y. Zheng Chromosome Alignment and Segregation Regulated by Ubiquitination of Survivin Science, December 2, 2005; 310(5753): 1499 - 1504. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Goswami and G. S. Conway Premature ovarian failure Hum. Reprod. Update, July 1, 2005; 11(4): 391 - 410. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Sato, Y. Kanai, T. Noma, M. Kanai-Azuma, S. Taya, T. Matsui, M. Ishii, H. Kawakami, M. Kurohmaru, K. Kaibuchi, et al. A close correlation in the expression patterns of Af-6 and Usp9x in Sertoli and granulosa cells of mouse testis and ovary Reproduction, November 1, 2004; 128(5): 583 - 594. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H.J. Ditton, J. Zimmer, C. Kamp, E. Rajpert-De Meyts, and P.H. Vogt The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control Hum. Mol. Genet., October 1, 2004; 13(19): 2333 - 2341. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. H. Kim, K. C. Park, S. S. Chung, O. Bang, and C. H. Chung Deubiquitinating Enzymes as Cellular Regulators J. Biochem., July 1, 2003; 134(1): 9 - 18. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S.E. Kleiman, B.B.-S. Maymon, L. Yogev, G. Paz, and H. Yavetz The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells Hum. Reprod., March 1, 2001; 16(3): 399 - 402. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. L. Liow, E. L. Yong, and S. C. Ng Prognostic value of Y deletion analysis: How reliable is the outcome of Y deletion analysis in providing a sound prognosis? Hum. Reprod., January 1, 2001; 16(1): 9 - 12. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. R. Zinn The X Chromosome and the Ovary Reproductive Sciences, January 1, 2001; 8(1_suppl): S34 - S36. [Abstract] [PDF]
|
|
|
|
 |
|
 X. Chen and J. A. Fischer In Vivo Structure/Function Analysis of the Drosophila fat facets Deubiquitinating Enzyme Gene Genetics, December 1, 2000; 156(4): 1829 - 1836. [Abstract] [Full Text]
|
|
|
|
|
|
C. Foresta, A. Ferlin, and E. Moro Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility Hum. Mol. Genet., May 1, 2000; 9(8): 1161 - 1169. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Cadavid, A Ginzel, and J. Fischer The function of the Drosophila fat facets deubiquitinating enzyme in limiting photoreceptor cell number is intimately associated with endocytosis Development, January 4, 2000; 127(8): 1727 - 1736. [Abstract] [PDF]
|
|
|
|
 |
|
 R. A. Pierce, E. D. Field, J. M. M. den Haan, J. A. Caldwell, F. M. White, J. A. Marto, W. Wang, L. M. Frost, E. Blokland, C. Reinhardus, et al. Cutting Edge: The HLA-A*0101-Restricted HY Minor Histocompatibility Antigen Originates from DFFRY and Contains a Cysteinylated Cysteine Residue as Identified by a Novel Mass Spectrometric Technique J. Immunol., December 15, 1999; 163(12): 6360 - 6364. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. T. Lahn and D. C. Page Four Evolutionary Strata on the Human X Chromosome Science, October 29, 1999; 286(5441): 964 - 967. [Abstract] [Full Text]
|
|
|
|
|
|
C. Krausz, L. Quintana-Murci, S. Barbaux, J.-P. Siffroi, H. Rouba, D. Delafontaine, N. Souleyreau-Therville, G. Arvis, J. M. Antoine, E. Erdei, et al. A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility J. Clin. Endocrinol. Metab., October 1, 1999; 84(10): 3606 - 3612. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. E. Sloper-Mould, H. J. Eyre, X.-W. Wang, G. R. Sutherland, and R. T. Baker Characterization and Chromosomal Localization of USP3, a Novel Human Ubiquitin-specific Protease J. Biol. Chem., September 17, 1999; 274(38): 26878 - 26884. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. T. Lahn and D. C. Page Functional Coherence of the Human Y Chromosome Science, October 24, 1997; 278(5338): 675 - 680. [Abstract] [Full Text]
|
|