The role of SOX9 in autosomal sex reversal and campomelic dysplasia
Samo za registrovane korisnike
1995
Autori
Schafer, A.J.Dominguez-Steglich, M.A.
Guioli, S.
Kwok, C.
Weller, P.A.
Stevanović, M.
Weissenbach, J.
Mansour, S.
Young, I.D.
Goodfellow, P.N.
Članak u časopisu (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
In eutherian mammals, the Y-chromosome gene SRY is required for induction of testis development. Although the Y chromosome is sex determining, loci located elsewhere in the genome participate in the complex cascade of genetic interactions required to form a testis. Male to female sex reversal (46,XY females) occurs at a high frequency in individuals afflicted with the skeletal malformation syndrome campomelic dysplasia. Chromosomal translocations in individuals with both syndromes had localized an autosomal sex reversal locus (SRA1) and a campomelic dysplasia locus (CMPD1) to the long arm of human chromosome 17. The molecular cloning of a translocation breakpoint in a sex reversed campomelic dysplasia patient revealed its proximity to SOX9, a gene which is related to SRY. Analysis of SO X9 in patients without chromosomal rearrangements demonstrated single allele mutations in sex reversed campomelic individuals, linking this gene with both bone formation and control of testis developmen...t. Identification of SO X9 as SRA1/CMPD1 and the role of SO X9 mutations in sex reversal and campomelic dysplasia are discussed.
Izvor:
Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 1995, 350, 1333, 271-277; discussion 277-278
DOI: 10.1098/rstb.1995.0161
ISSN: 0962-8436
PubMed: 8570691
Scopus: 2-s2.0-0029654217
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Schafer, A.J. AU - Dominguez-Steglich, M.A. AU - Guioli, S. AU - Kwok, C. AU - Weller, P.A. AU - Stevanović, M. AU - Weissenbach, J. AU - Mansour, S. AU - Young, I.D. AU - Goodfellow, P.N. PY - 1995 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/90 AB - In eutherian mammals, the Y-chromosome gene SRY is required for induction of testis development. Although the Y chromosome is sex determining, loci located elsewhere in the genome participate in the complex cascade of genetic interactions required to form a testis. Male to female sex reversal (46,XY females) occurs at a high frequency in individuals afflicted with the skeletal malformation syndrome campomelic dysplasia. Chromosomal translocations in individuals with both syndromes had localized an autosomal sex reversal locus (SRA1) and a campomelic dysplasia locus (CMPD1) to the long arm of human chromosome 17. The molecular cloning of a translocation breakpoint in a sex reversed campomelic dysplasia patient revealed its proximity to SOX9, a gene which is related to SRY. Analysis of SO X9 in patients without chromosomal rearrangements demonstrated single allele mutations in sex reversed campomelic individuals, linking this gene with both bone formation and control of testis development. Identification of SO X9 as SRA1/CMPD1 and the role of SO X9 mutations in sex reversal and campomelic dysplasia are discussed. T2 - Philosophical transactions of the Royal Society of London. Series B, Biological sciences T1 - The role of SOX9 in autosomal sex reversal and campomelic dysplasia EP - 277; discussion 277-278 IS - 1333 SP - 271 VL - 350 DO - 10.1098/rstb.1995.0161 ER -
@article{ author = "Schafer, A.J. and Dominguez-Steglich, M.A. and Guioli, S. and Kwok, C. and Weller, P.A. and Stevanović, M. and Weissenbach, J. and Mansour, S. and Young, I.D. and Goodfellow, P.N.", year = "1995", abstract = "In eutherian mammals, the Y-chromosome gene SRY is required for induction of testis development. Although the Y chromosome is sex determining, loci located elsewhere in the genome participate in the complex cascade of genetic interactions required to form a testis. Male to female sex reversal (46,XY females) occurs at a high frequency in individuals afflicted with the skeletal malformation syndrome campomelic dysplasia. Chromosomal translocations in individuals with both syndromes had localized an autosomal sex reversal locus (SRA1) and a campomelic dysplasia locus (CMPD1) to the long arm of human chromosome 17. The molecular cloning of a translocation breakpoint in a sex reversed campomelic dysplasia patient revealed its proximity to SOX9, a gene which is related to SRY. Analysis of SO X9 in patients without chromosomal rearrangements demonstrated single allele mutations in sex reversed campomelic individuals, linking this gene with both bone formation and control of testis development. Identification of SO X9 as SRA1/CMPD1 and the role of SO X9 mutations in sex reversal and campomelic dysplasia are discussed.", journal = "Philosophical transactions of the Royal Society of London. Series B, Biological sciences", title = "The role of SOX9 in autosomal sex reversal and campomelic dysplasia", pages = "277; discussion 277-278-271", number = "1333", volume = "350", doi = "10.1098/rstb.1995.0161" }
Schafer, A.J., Dominguez-Steglich, M.A., Guioli, S., Kwok, C., Weller, P.A., Stevanović, M., Weissenbach, J., Mansour, S., Young, I.D.,& Goodfellow, P.N.. (1995). The role of SOX9 in autosomal sex reversal and campomelic dysplasia. in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 350(1333), 271-277; discussion 277-278. https://doi.org/10.1098/rstb.1995.0161
Schafer A, Dominguez-Steglich M, Guioli S, Kwok C, Weller P, Stevanović M, Weissenbach J, Mansour S, Young I, Goodfellow P. The role of SOX9 in autosomal sex reversal and campomelic dysplasia. in Philosophical transactions of the Royal Society of London. Series B, Biological sciences. 1995;350(1333):271-277; discussion 277-278. doi:10.1098/rstb.1995.0161 .
Schafer, A.J., Dominguez-Steglich, M.A., Guioli, S., Kwok, C., Weller, P.A., Stevanović, M., Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P.N., "The role of SOX9 in autosomal sex reversal and campomelic dysplasia" in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 350, no. 1333 (1995):271-277; discussion 277-278, https://doi.org/10.1098/rstb.1995.0161 . .