X-Y Translocations and Sex Differentiation

Ken McElreavey; Laura Salas Cortes

doi:10.1055/s-2001-15393

Seminars in Reproductive Medicine, Inhaltsverzeichnis

Semin Reprod Med 2001; 19(2): 133-140
DOI: 10.1055/s-2001-15393

X-Y Translocations and Sex Differentiation

Ken McElreavey, Laura Salas Cortes

Institut Pasteur, Immunogénétique Humaine, INSERM E0021, Paris, France

Abstract

ABSTRACT

Translocations involving the X and Y chromosomes are often associated with anomalies of gonadal development. Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism. Three classes of XX males have been defined on the basis of the extent of Y material transferred to the X chromosome. In one class, the transfer of material involves aberrant recombination between two highly homologous genes, PKRX and PKRY, and there is evidence to suggest that this interchange is influenced by the Y chromosome background. Other types of X-Y translocations associated with anomalies of sex differentiation include Xp-Yq translocations, which result in a functional disomy of Xp sequences including the DSS locus and are associated with 46,XY complete or partial gonadal dysgenesis. In rare cases Yp-Xq translocations have been described in association with 46,XX maleness.

KEYWORD

Y chromosome - translocation - X chromosome - sex determination

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Referenzen

REFERENCES

1 Rappold G A. The pseudoautosomal regions of the human sex. Hum Genet . 1993; 92 315-324
2 Ciccodicola A, D'Esposito M, Esposito T. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Hum Mol Genet . 2000; 9 395-401
3 Vermeesch J R, Petit P, Kermouni A, Renauld J C, Van Den Berghe H, Marynen P. The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y. Hum Mol Genet . 1997; 6 1-8
4 Ellis N A, Goodfellow P J, Pym B. The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature . 1989; 337 81-84
5 Rouyer F, Simmler M C, Johnsson C, Vergnaud G, Cooke H J, Weissenbach J. A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature . 1986; 319 291-295
6 Page D C, Harper M E, Love J, Botstein D. Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature . 1984; 311 119-123
7 Lambson B, Affara N A, Mitchell M, Ferguson-Smith M A. Evolution of DNA sequence homologies between the sex chromosomes in primate species. Genomics . 1992; 14 1032-1040
8 Cooke H J. Repeated sequence specific to human males. Nature . 1976; 262 182-186
9 Smith K D, Young K E, Talbot C C, Schmeckpeper B J. Repeated DNA of the Y chromosome. Development . 1987; 101 77-92
10 Vogt P, Keil R, Kohler M, Lengauer C, Lewe D, Lewe G. Selection of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei Hum Genet . 1991; 86 341-349
11 Nakagome Y, Nagafuchi S, Seki S. A repeating unit of the DYZ1 family on the human Y chromosome consists of segments with partial male-specificity. Cytogenet Cell Genet . 1991; 56 74-77
12 Nakahori Y, Mitani K, Yamada M, Nakagome Y. A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides. Nucleic Acid Res . 1986; 14 7569-7580
13 Ludena P, Fernandez-Piqueras J, Sentis C. Distribution of DYZ2 repetitive sequences on the human Y chromosome. Hum Genet . 1993; 90 572-574
14 Schmid M, Guttenbach M, Nanda I, Studer R, Epplen J T. Organisation of DYZ2 repetitive DNA on the human Y chromosome. Genomics . 1990; 6 212-218
15 Sinclair A H, Berta P, Palmer M S. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature . 1990; 346 240-244
16 Salas-Cortes L, Jaubert F, Barbaux S. The human SRY protein is present in fetal and adult Sertoli cells and germ cells. Int J Dev Biol . 1999; 43 135-140
17 Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature . 1991; 351 117-121
18 McElreavey K, Krausz C. Sex chromosome genetics '99: male infertility and the Y chromosome. Am J Hum Genet . 1999; 64 928-933
19 de la Chapelle A. The etiology of maleness in XX men. Hum Genet . 1981; 58 105-116
20 Berkovitz G D, Seeherunvong T. Abnormalities of gonadal differentiation. Baillieres Clin Endocrinol Metab . 1998; 12 133-142
21 Ferguson-Smith M A. X-Y chromosomal interchange in the etiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet . 1966; 2 475-476
22 Vergnaud G, Page D C, Simmler M C. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet . 1986; 38 109-124
23 Petit C, de la Chapelle A, Levilliers J, Castillo S, Noel B, Weissenbach J. An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness. Cell . 1987; 49 595-602
24 Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C. Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nat Genet . 1994; 7 414-419
25 Schiebel K, Winkelmann M, Mertz A. Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+) XX males and (Y-)XY females. Hum Mol Genet . 1997; 6 1985-1989
26 Copelli S, Castineyra G, Levalle O, Aszpis S, Mormandi E, Targovnik H. PCR analysis of Y-chromosome sequences in a 45,X male patient and a review of the literature. Arch Androl . 2000; 44 137-145
27 Weil D, Portnoi M F, Levilliers J. 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. Hum Mol Genet . 1993; 2 1853-1856
28 Jobling M A, Williams G, Schiebel K. A selective difference between human Y-chromosomal DNA haplotypes. Curr Biol . 1998; 8 1391-1394
29 Jobling M A, Bouzekri N, Taylor P G. Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1). Hum Mol Genet . 1998; 7 643-653
30 Margarit E, Coll M D, Oliva R, Gomez D, Soler A, Ballesta F. SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite. Am J Med Genet . 2000; 90 25-28
31 McElreavey K, Fellous M. Sex determination and the Y chromosome. Am J Med Genet . 1999; 89 176-185
32 Ogata T, Hawkins J R, Taylor A, Matsuo N, Hata J, Goodfellow P N. Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s) located in distal Xp, involved in testis determination. J Med Genet . 1992; 29 226-230
33 Zanaria E, Muscatelli F, Bardoni B. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature . 1994; 372 635-641
34 Muscatelli F, Strom T M, Walker A P. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Nature . 1994; 372 672-676
35 Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet . 1996; 12 404-409
36 Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell- Badge R. Dax1 antagonizes Sry action in mammalian sex determination. Nature . 1998; 391 761-767
37 Yu R N, Ito M, Saunders T L, Camper S A, Jameson J L. Role of Ahch in gonadal development and gametogenesis. Nat Genet . 1998; 20 353-357
38 Fukami M, Kirsch S, Schiller S. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet . 2000; 67 563-573
39 Kusz K, Kotecki M, Wojda A. Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. J Med Genet . 1999; 36 452-456
40 Fechner P Y, Rosenberg C, Stetten G. Nonrandom inactivation of the Y-bearing X chromosome in a 46,XX individual: evidence for the etiology of 46,XX true hermaphroditism. Cytogenet Cell Genet . 1994; 66 22-26
41 Abbas N, McElreavey K, Leconiat M. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. CR Acad Sci III . 1993; 316 375-383
42 Kono T, Migita T, Koyama S, Seki I. Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions. J Hum Genet . 1999; 44 63-68
43 Stratton R F, Walter C A, Paulgar B R, Price M E, Moore C M. Second 46,XX male with MLS syndrome. Am J Med Genet . 1998; 76 37-41
44 Lindsay E A, Grillo A, Ferrero G B. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet . 1994; 49 229-234