Fate of SRY, PABY, DYS1, DYZ3 and DYZ1 loci in Indian patients harbouring sex chromosomal anomalies

Molecular Human Reproduction

Volumn 11, Issue 2, 2005, Pages 117-127

  Bashamboo, Anu ^a   Rahman, Mohammed Mahidur ^a   Prasad, Aparna ^a   Chandy, Sebastian Padinjarel ^a   Ahmad, Jamal ^b   Ali, Sher ^a  

^a NATIONAL INSTITUTE OF IMMUNOLOGY   (India)

^b ALIGARH MUSLIM UNIVERSITY   (India)

Author keywords

Indels; Oligozoospermia; SRY gene; Turner syndrome; Y linked loci

Indexed keywords

DNA; FOLLITROPIN; GENE PRODUCT; LUTEINIZING HORMONE; PROLACTIN; PROSTAGLANDIN E2; PROTEIN DYS1; PROTEIN DYZ1; PROTEIN DYZ3; PROTEIN PABY; SEX HORMONE; TESTIS DETERMINING FACTOR; THYROTROPIN; UNCLASSIFIED DRUG;

ARTICLE; CELL NUCLEUS; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CRYPTORCHISM; DNA DETERMINATION; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOME ANALYSIS; GONADAL DYSGENESIS; HORMONE DETERMINATION; HUMAN; INDIAN; INTERPHASE; KLINEFELTER SYNDROME; MALE; MALE INFERTILITY; MALE PSEUDOHERMAPHRODITISM; METAPHASE CHROMOSOME; NUCLEOTIDE SEQUENCE; OLIGOSPERMIA; PHENOTYPE; PRIORITY JOURNAL; RECURRENT ABORTION; SEX CHROMOSOME ABERRATION; SEX CHROMOSOME MOSAICISM; SIGNAL TRANSDUCTION; SPONTANEOUS ABORTION; TURNER SYNDROME; Y CHROMOSOME; Y CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, Y; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC COUNSELING; GONADAL HORMONES; HIGH MOBILITY GROUP PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INDIA; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS; TURNER SYNDROME;

EID: 14744285519     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/gah135     Document Type: Article

References (33)

1. Ali S, Muller CR and Epplen JT (1986) DNA fingerprinting by oligonucleotide probes specific for simple repeats. Hum Genet 74,239-243.
2. Bashamboo A, Bhatnagar S, Kaur A, Sarhadi VK, Singh JR and Ali S (2003) Molecular characterization of a Y-derived marker chromosome and identification of indels in the DYS1 region in a patient with stigmata of Turner syndrome. Curr Sci 84,219-224.
3. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN and Fellous M (1990) Genetic evidence equating SRY and the testis-determining factor. Nature 348,448-450.
4. Disteche CM, Casanova M, Saal H, Friedman C, Sybert V, Graham J, Thuline H, Page DC and Fellous M (1986) Small deletions of the short arm of the Y chromosome in 46, XY females. Proc Natl Acad Sci USA 83,7841-7844.
5. Fryns JP, Kleczkowska A, Kubien E and Van den BH (1995) XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning. Genet Couns 6,197-206.
6. Gauri Bala S, Ahmad J and Ali S (1996) Genomic distribution of 5′TTCCA3′ repeat motif and its diagnostic potential in human Y-chromosome-related anomalies. Clin Genet 50,358-365.
7. Griffiths R and Tiwari B (1993) Primers for the differential amplification of the sex-determining region Y gene in a range of mammal species. Mol Ecol 2,405-406.
8. Hook EB and Warburton D (1983) The distribution of chromosomal genotypes associated with Turner's syndrome, live birth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 64,24-27.
9. Jacobs P, Dalton P, James R, Mosse K, Power M, Robinson D and Skuse D (1997) Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 61,471-483.
10. Jager RJ, Anvret M, Hall K and Scherer G (1990) A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348,452-454.
11. Joseph M, Cantu ES, Pai GS, Willi SM, Papenhausen PR and Weiss L (1996) Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22; Yq11 translocation. J Med Genet 33,906-911.
12. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S et al. (2001) The AZFc region on the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29,279-286.
13. Kwok C, Tyler-Smith C, Mendonca BB, Hughes I, Berkovitz GD, Goodfellow PN and Hawkins JR (1996) Mutation analysis of the 2 kb 5′ to SRY in XY females and XY intersex subjects. J Med Genet 33,465-468.
14. Lahn BT and Page DC (1997) Functional coherence of the human Y chromosome. Science 278,675-680.
15. Larsen T, Gravholt CH, Tillebeck A, Larsen H, Jensen MB and Freidrich U (1995) Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromosome in 45, X Turner syndrome ascertained cytogenetically. Clin Genet 48,6-11.
16. Lau YF and Schonberg S (1984) A male-specific DNA probe detects hetero-chromatin sequences in a familial Yq-chromosome. Am J Hum Genet 36,1394-1396.
17. Manz E, Alkan M, Buhler E and Schmidtke J (1992) Arrangement of DYZ1 and DYZ2 repeats on the human Y-chromosome: a case with presence of DYZ1 and absence of DYZ2. Mol Cell Probes 6,257-259.
18. Medlej R, Lobaccaro JM, Berta P, Belon C, Leheup B, Toublanc, JE, Weill J, Chevalier C, Dumas R and Sultan C (1992) Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab 75,1289-1292.
19. Nagafuchi S, Seki S, Nakahori Y, Tamura T, Numabe H and Nakagome Y (1992) PCR detection of structurally abnormal Y-chromosomes. Jpn J Hum Genet 37,187-193.
20. Ogata T and Matsuo, N (1995) Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95,607-629.
21. Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G and Yokoya S (1995) Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15, further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). J Med Genet 32,831-834.
22. Page DC (2004) 2003 Curt Stern Award address. On low expectation exceeded; or, the genomic salvation of the Y chromosome. Am J Hum Genet 74,399-402.
23. Poulat F, Barbara PS, Desclozeaux M, Soullier S, Moniot B, Bonneaud N, Boizet B and Berta P (1997) The human testis-determining factor SRY binds a nuclear factor containing PDZ protein interaction domains. J Biol Chem 272,7167-7172.
24. Rahman MM, Bashamboo A, Prasad A, Pathak D and Ali S (2004) Organizational variation of DYZ1 repeat sequences on the human y chromosome and its diagnostic potentials. DNA Cell Biol 23,561-571.
25. Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM et al. (1996) The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 14,292-299.
26. Schwinger E, Kirschstein M, Greiwe M, Konermann T, Orth U and Gal A (1996) Short stature in a mother and daughter with terminal deletion of Xp22.3. Am J Med Genet 63,239-242.
27. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T et al. (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423,825-837.
28. Southern EM (1975) Detection of species-specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98,503-517.
29. Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G and Rappold GA (1997) Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height. Clin Genet 51,346-350.
30. Tilford CA, Kuroda-Kawaguchi T, Skaletsky H, Rozen S, Brown LG, Rosenberg M, McPherson JD, Wylie K, Sekhon M, Kukaba TA et al. (2001) A physical map of the human Y chromosome. Nature 409,943-945.
31. Verp MS and Simpson JL (1987) Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 25,191-218.
32. Vietia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo, T, Chibani J et al. (1997) Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46, XY female phenotype. Hum Genet 99,648-652.
33. Yorifugi T, Muroi J, Kawai M, Sasaki H, Momoi T and Furusho K (1997) PCR-based detection of mosaicism in Turner syndrome patients. Hum Genet 99,62-65.