Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal

Human Molecular Genetics

Volumn 5, Issue 1, 1996, Pages 69-72

  Ninomiya, Shinsuke ^a,b   Isomura, Minoru ^a,c   Narahara, Kouji ^b   Seino, Yoshiki ^b   Nakamura, Yusuke ^a,c  

^a CANCER INSTITUTE   (Japan)

^b OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ARTICLE; BONE DYSPLASIA; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 17; COSMID; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; LOW SET EAR; NORTHERN BLOTTING; PRIORITY JOURNAL; SEX DIFFERENTIATION DISORDER; SEX TRANSFORMATION; SKELETON MALFORMATION; TESTIS;

ABNORMALITIES, MULTIPLE; ADULT; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 17; CLONING, MOLECULAR; DNA, COMPLEMENTARY; HIGH MOBILITY GROUP PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEX REVERSAL, GONADAL; SYNDROME; TESTIS; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 0030039598     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.1.69     Document Type: Article

References (23)

1. Hall, B.D. and Spranger, J.W. (1980) Camporaelic dysplasia: Further elucidation of a distinct entity. Am. J. Dis. Child. 134, 285-289.
2. Houston, C.S., Opitz, J.M., Spranger, J.W., Macpherson, R.I., Reed, M.H., Gilbert, E.F., Herrmann, J. and Schinzel, A. (1983) Review, report of 17 cases and follow-up on the currently 17-year-old boy first reported by Maroteaux et al. in 1971. Am. J. Med. Genet., 15, 3-28.
3. Maraia, R., Saal, H.M. and Wangsa, D. (1991) Achromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and euologic hypothesis. Clin. Genet., 39, 401-108.
4. Young, I.D., Zuccollo, J.M., Maltby, E.L. and Broderick, N.J (1992) Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J. Med. Genet., 29, 251-252.
5. Tommerup, N.W. Schempp, Meinecke, P., Pedersen, S , Bolund, L , Brandt, C. Goodpasture, C., Guldberg, P., Held, K.R., Reinwein, H., Saugstad, O.D., Scherer, G., Skjeldal, O., Toder, R. Westvik, J., van der Hagen, C.B. and Wolf, U. (1993) Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nature Genet , 4, 170-174.
6. Ninomiya, S., Narahara, K., Tsuji, K., Yokoyama, Y., Ito, S. and Seino, Y. (1995) Acampomelic campomelic dysplasia and sex reversal associated with de novo t(12;17) translocation. Am. J. Med. Genet., in press.
7. Inazawa, J., Saito, H., Ariyama, T., Abe, T. and Nakamura, Y. (1993) High resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization. Genomics, 17, 153-162.
8. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1982) Molecular Cloning A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
9. Bricarelli, F.D., Fraccaro, M., Lindsten, J., Muller, U., Baggio, P., Carbone, L.D.L , Hjerpe, A., Lindgren, F., Mayerova, A., Ringertz, H., Ritzen, E.M , Rovetta, D.C., Sicchero, C. and Wolf, U. (1981) Sex reversal XY females with campomelic dysplasia are HY negative. Hum. Genet., 57, 15-22.
10. Macpherson, R.I., Skinner, S A and Donnefeld, A.E. (1989) Acampomelic campomelic dysplasia. Pediatr. Radiol , 20, 90-93.
11. Friedrich, U., Schaefer, E and Meinecke, P. (1992) Campomelic dysplasia without overt campomelia. Clin. Dysmorphol., 1, 172-178.
12. Rodriguez, J.I. (1993) Vascular anomalies in campomelic syndrome. Am .J. Med. Genet., 46, 185-192.
13. Schmickel, R.D.(1986) Contiguous gene syndromes: a component of recognizable syndromes. J. Pediatr., 109, 231-241.
14. Berta, P., Ross, Hawkins, J., Sinclair, A.H., Taylor, A., Griffiths, B.L., Goodfellow, P.N. and Fellous, M. (1990) Genetic evidence equating SRY and the testis-determining factor. Nature, 348, 448-450.
15. Ebensperger, C., Jager, R.J., Lattermann, U., Bricarreli, F.D., Keutel, J , Lindsten, J., Render, H., Muller, U. and Wolf, U. (1991) No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. Ann. Genet., 34, 233-238.
16. Brockdorff, N., Ashworth, A., Kay, G.F., McCabe, V.M., Norris, D.P , Cooper, P.J., Swift, S. and Rastan, S. (1992) The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus. Cell, 71, 515-526.
17. Brown, C.J , Hendrich, B.D., Rupert, J.L., Lafreniere, R.G., Xing, Y , Lawrence, J. and Willard, H.F. (1992) The human XIST gene:analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell, 71, 527-542.
18. Inazawa, J., Anyama, T., Tokino, T., Tanigami, A., Nakamura, Y. and Abe, T. (1994) High resolution ordering of DNA markers by multi-color fluorescent in situ hybridization of prophase chromosomes. Cytogenet. Cell. Genet., 65. 130-135.
19. Tokino, T., Takahashi, E , Mori, M., Tanigami, A., Glaser, T., Park, J W, Jones, C., Hori, T. and Nakamura, Y. (1991) Isolation and mapping of 62 new RFLP markers on human chromosome 11. Am. J. Hum. Genet., 48, 258-268
20. Sanger, F., Nicklen, S. and Coulson, A R. (1977) DNA sequencing with chain terminating inhibitors. Proc. Natl. Acad. Sci. USA, 74, 5463-5466.
21. Foster, J.W., Dominguez-Stegtich, M.A., Guioli, S., Kowk, G., Weller, PA , Stevanovic, M., Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P N , Brook, J.D. and Schafer, A.J. (1994) Campomelic dysplasia and autosomal sex reversal caused by mutation in an SRY-related gene. Nature, 372, 525-530.
22. Wright, E., Hargrave, M.R., Christiansen, J., Coopre, L., Kun, J., Evans, T., Gangadharan, U., Greenfield, A. and Koopman, P. (1995) The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos. Nature Genet., 9, 15-20.
23. Wagner, T., Wirth, J., Meyer, J., Zabel, B., Held, M., Zimmer, J., Pasantes, J., Bricarelli, F.D., Keutel, J., Hustert, E., Wolf, U., Tommerup, N., Schempp, W. and Schere, G. (1995) Autosomal sex reversal and campomelic dysplasis are caused by mutations in and around the SRY-related gene SOX9. Cell, 79, 1111-1120