TY  - 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 . .

TY  - JOUR
AU  - Foster, J.W.
AU  - Dominguez-Steglich, M.A.
AU  - Guioli, S.
AU  - Kwok, C.
AU  - Weller, P.A.
AU  - Stevanović, Milena
AU  - Weissenbach, J.
AU  - Mansour, S.
AU  - Young, I.D.
AU  - Goodfellow, P.N.
AU  - Brook, J.D.
AU  - Schafer, A.J.
PY  - 1994
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/87
AB  - Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.
T2  - Nature
T1  - Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
EP  - 530
IS  - 6506
SP  - 525
VL  - 372
DO  - 10.1038/372525a0
ER  - 

@article{
author = "Foster, J.W. and Dominguez-Steglich, M.A. and Guioli, S. and Kwok, C. and Weller, P.A. and Stevanović, Milena and Weissenbach, J. and Mansour, S. and Young, I.D. and Goodfellow, P.N. and Brook, J.D. and Schafer, A.J.",
year = "1994",
abstract = "Induction of testis development in mammals requires the presence of the Y-chromosome gene SPY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.",
journal = "Nature",
title = "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene",
pages = "530-525",
number = "6506",
volume = "372",
doi = "10.1038/372525a0"
}

Foster, J.W., Dominguez-Steglich, M.A., Guioli, S., Kwok, C., Weller, P.A., Stevanović, M., Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P.N., Brook, J.D.,& Schafer, A.J.. (1994). Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. in Nature, 372(6506), 525-530.
https://doi.org/10.1038/372525a0

Foster J, Dominguez-Steglich M, Guioli S, Kwok C, Weller P, Stevanović M, Weissenbach J, Mansour S, Young I, Goodfellow P, Brook J, Schafer A. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. in Nature. 1994;372(6506):525-530.
doi:10.1038/372525a0 .

Foster, J.W., Dominguez-Steglich, M.A., Guioli, S., Kwok, C., Weller, P.A., Stevanović, Milena, Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P.N., Brook, J.D., Schafer, A.J., "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene" in Nature, 372, no. 6506 (1994):525-530,
https://doi.org/10.1038/372525a0 . .