Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

Fertility and Sterility

Volumn 92, Issue 4, 2009, Pages 1347-1350

  Vinci, Giovanna ^a   Brauner, Raja ^b   Tar, Attila ^c   Rouba, Hassan ^d   Sheth, Jayesh ^e   Sheth, Frenny ^e   Ravel, Celia ^a,f,g   McElreavey, Ken ^a   Bashamboo, Anu ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HEIM PÁL CHILDREN S HOSPITAL   (Hungary)

^d Institut Pasteur du Maroc   (Morocco)

^e FRIGE Foundation for Research in Genetics and Endocrinology   (India)

^f SORBONNE UNIVERSITÉ   (France)

^g HÔPITAL TENON   (France)

Author keywords

46,XY DSD; male infertility; TSPYL1, testis

Indexed keywords

RESTRICTION ENDONUCLEASE;

ADULT; ALLELE; AMENORRHEA; AMINO ACID SUBSTITUTION; AMISH; AMPLICON; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AZOOSPERMIA; CELL CYCLE; CHROMOSOME 6P; CONTROLLED STUDY; DNA POLYMORPHISM; ETHNICITY; FAMILY HISTORY; GENE; GENE DELETION; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GONADAL DYSGENESIS; HUMAN; INTRON; KARYOTYPE 46,XY; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; OPEN READING FRAME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SEXUAL DEVELOPMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TANDEM REPEAT; TESTIS DEVELOPMENT; TESTIS FUNCTION; TESTIS SPECIFIC Y LIKE 1 GENE; Y CHROMOSOME;

AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, Y; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT, NEWBORN; INFERTILITY, MALE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SUDDEN INFANT DEATH;

EID: 70349576585     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2009.04.009     Document Type: Article

References (26)

1. Hughes I.A., Houk C., Ahmed S.F., and Lee P.A. LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders. Arch Dis Child 91 (2006) 554-563
2. Migeon C.J., Wisniewski A.B., Brown T.R., Rock J.A., Meyer-Bahlburg H.F., Money J., et al. 46,XY intersex individuals: phenotypic and etiologic classification, knowledge of condition, and satisfaction with knowledge in adulthood. Pediatrics 110 (2002) e32
3. Berkovitz G.D. Abnormalities of gonadal determination and differentiation. Semin Perinatol 16 (1992) 289-298
4. McElreavey K., and Fellous M. Sex determination and the Y chromosome. Am J Med Genet 89 (1999) 176-185
5. Hawkins J.R., Taylor A., Berta P., Levilliers J., Van der Auwera B., and Goodfellow P.N. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet 88 (1992) 471-474
6. Lin L., and Achermann J.C. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex Dev 2 (2008) 200-209
7. Morel Y., Rey R., Teinturier C., Nicolino M., Michel-Calemard L., Mowszowicz I., et al. Aetiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr 161 (2002) 49-59
8. Fukami M., Wada Y., Miyabayashi K., Nishino I., Hasegawa T., Nordenskjöld A., et al. CXorf6 is a causative gene for hypospadias. Nat Genet 38 (2006) 1369-1371
9. Sultan C., Paris F., Jeandel C., Lumbroso S., and Galifer R.B. Ambiguous genitalia in the newborn. Semin Reprod Med 20 (2002) 181-188
10. Puffenberger E.G., Hu-Lince D., Parod J.M., Craig D.W., Dobrin S.E., Conway A.R., et al. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci USA 101 (2004) 11689-11694
11. Tyler-Smith C., and Taylor L. Muller U Structure of a hypervariable tandemly repeated DNA sequence on the short arm of the human Y chromosome. J Mol Biol 203 (1988) 837-848
12. Arnemann J., Jakubiczka S., Thuring S., and Schmidtke J. Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY. Genomics 11 (1991) 108-114
13. Zhang J.S., Yang-Feng T.L., Muller U., Mohandas T.K., de Jong P.J., and Lau Y.F. Molecular isolation and characterization of an expressed gene from the human Y chromosome. Hum Mol Genet 1 (1992) 717-726
14. Vogel T., Dittrich O., Mehraein Y., Dechend F., Schnieders F., and Schmidtke J. Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family. Cytogenet Cell Genet 81 (1998) 265-270
15. Schnieders F., Dork T., Arnemann J., Vogel T., Werner M., and Schmidtke J. Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Hum Mol Genet 5 (1996) 1801-1807
16. von Lindern M., van Baal S., Wiegant J., Raap A., Hagemeijer A., and Grosveld G. Can, a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3′ half to different genes: characterization of the set gene. Mol Cell Biol 2 (1992) 3346-3355
17. Kellogg D.R., Kikuchi A., Fujii-Nakata T., Turck C.W., and Murray A.W. Members of the NAP/SET family of proteins interact specifically with B-type cyclins. J Cell Biol 130 (1995) 661-673
18. Canela N., Rodriguez-Vilarrupla A., Estanyol J.M., Diaz C., Pujol M.J., Agell N., et al. The SET protein regulates G2/M transition by modulating cyclin B-cyclin-dependent kinase 1 activity. J Biol Chem 278 (2003) 1158-1164
19. Ng P.C., and Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31 (2003) 3812-3814
20. Ramensky V., Bork P., and Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30 (2002) 3894-3900
21. McElreavey K., Ravel C., Chantot-Bastaraud S., and Siffroi J.P. Y chromosome variants and male reproductive function. Int J Androl 29 (2006) 298-303
22. Krude T. Chromatin assembly during DNA replication in somatic cells. Eur J Biochem 263 (1999) 1-5
23. McBryant S.J., Park Y.J., Abernathy S.M., Laybourn P.J., Nyborg J.K., and Luger K. Preferential binding of the histone (H3-H4)2 tetramer by NAP1 is mediated by the amino-terminal histone tails. J Biol Chem 278 (2003) 44574-44583
24. Shikama N., Chan H.M., Krstic-Demonacos M., Smith L., Lee C.W., Cairns W., et al. Functional interaction between nucleosome assembly proteins and p300/CREB-binding protein family coactivators. Mol Cell Biol 20 (2000) 8933-8943
25. McQuibban G.A., Commisso-Cappelli C.N., and Lewis P.N. Assembly, remodeling, and histone binding capabilities of yeast nucleosome assembly protein 1. J Biol Chem 273 (1998) 6582-6590
26. Wilhelm D., Palmer S., and Koopman P. Sex determination and gonadal development in mammals. Physiol Rev 87 (2007) 1-28