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Volumn 12, Issue 1, 1998, Pages 1-16

Genetic control of gonadal differentiation

Author keywords

DAX 1; FTZ F1; Gonadal differentiation; LIM1; Sex reversal; Sexual differentiation; SOX9; SRY; WT1

Indexed keywords

FUNCTIONAL ASSESSMENT; GENE FUNCTION; GENE ISOLATION; GENE MUTATION; GENETIC REGULATION; GONAD DEVELOPMENT; MOLECULAR CLONING; OVARY; REVIEW; SEX DIFFERENTIATION; SEX TRANSFORMATION; TESTIS;

EID: 0031730384     PISSN: 0950351X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0950-351X(98)80410-2     Document Type: Article
Times cited : (18)

References (61)
  • 1
    • 0026603766 scopus 로고
    • Molecular cytogenetic analysis of XX males using Y-specific DNA-sequences, including SRY
    • van der Auwera B van Roy N De Paepe A Molecular cytogenetic analysis of XX males using Y-specific DNA-sequences, including SRY Human Genetics 89 1992 23 28
    • (1992) Human Genetics , vol.89 , pp. 23-28
    • van der Auwera, B1    van Roy, N2    De Paepe, A3
  • 2
    • 0027957103 scopus 로고
    • A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
    • Bardoni B Zanaria E Guioli S A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal Nature Genetics 7 1994 497 501
    • (1994) Nature Genetics , vol.7 , pp. 497-501
    • Bardoni, B1    Zanaria, E2    Guioli, S3
  • 3
    • 0028103739 scopus 로고
    • Embryonic expression of Lim-1, the mouse homolog of Xenopus XLIM-1, suggests a role in lateral mesoderm differentiation and neurogenesis
    • Barnes JD Crosby JL Jones M Embryonic expression of Lim-1, the mouse homolog of Xenopus XLIM-1, suggests a role in lateral mesoderm differentiation and neurogenesis Developmental Biology 161 1994 168 178
    • (1994) Developmental Biology , vol.161 , pp. 168-178
    • Barnes, JD1    Crosby, JL2    Jones, M3
  • 4
    • 0027222136 scopus 로고
    • Evidence that the SRY protein is encoded by a single exon on the human Y chromosome
    • Behlke MA Bogan JS Beer-Romero P Page DC Evidence that the SRY protein is encoded by a single exon on the human Y chromosome Genomics 17 1993 736 739
    • (1993) Genomics , vol.17 , pp. 736-739
    • Behlke, MA1    Bogan, JS2    Beer-Romero, P3    Page, DC4
  • 6
    • 0030948046 scopus 로고    scopus 로고
    • Mutations in SRY and SOX9: testis-determining genes
    • Cameron FJ Sinclair AH Mutations in SRY and SOX9: testis-determining genes Human Mutation 9 1997 388 395
    • (1997) Human Mutation , vol.9 , pp. 388-395
    • Cameron, FJ1    Sinclair, AH2
  • 7
    • 0031028802 scopus 로고    scopus 로고
    • Characterization of the promoter region of the mouse gene encoding the steroidogenic acute regulatory protein
    • Caron KM Ikeda Y Soo SC Characterization of the promoter region of the mouse gene encoding the steroidogenic acute regulatory protein Molecular Endocrinology 11 1997 138 147
    • (1997) Molecular Endocrinology , vol.11 , pp. 138-147
    • Caron, KM1    Ikeda, Y2    Soo, SC3
  • 8
    • 0027228366 scopus 로고
    • Mutational screening of the Wilms' tumour gene, WT1, in males with genital abnormalities
    • Clarkson PA Davies HR Williams DM Mutational screening of the Wilms' tumour gene, WT1, in males with genital abnormalities Journal of Medical Genetics 30 1993 767 772
    • (1993) Journal of Medical Genetics , vol.30 , pp. 767-772
    • Clarkson, PA1    Davies, HR2    Williams, DM3
  • 9
    • 0030911692 scopus 로고    scopus 로고
    • Cloning, expression and chromosomal localization to 11p12—13 of a human LIM/homeobox gene, hLIM-1
    • Dong WF Heng HH Lowsky R Cloning, expression and chromosomal localization to 11p12—13 of a human LIM/homeobox gene, hLIM-1 DNA and Cell Biology 16 1997 671 678
    • (1997) DNA and Cell Biology , vol.16 , pp. 671-678
    • Dong, WF1    Heng, HH2    Lowsky, R3
  • 10
    • 0029795232 scopus 로고    scopus 로고
    • Sex-determining genes on mouse autosomes identified by linkage analysis of C47BL/6J-YPOS sex reversal
    • POS sex reversal Nature Genetics 14 1996 206 209
    • (1996) Nature Genetics , vol.14 , pp. 206-209
    • Eicher, EM1    Washburn, LL2    Schork, NJ3
  • 11
    • 0026439782 scopus 로고
    • SRY, like HMG, recognizes sharp angles in DNA
    • Ferrari S Harley VR Pontiggia A SRY, like HMG, recognizes sharp angles in DNA EMBO Journal 11 1992 4497 4506
    • (1992) EMBO Journal , vol.11 , pp. 4497-4506
    • Ferrari, S1    Harley, VR2    Pontiggia, A3
  • 12
    • 49749223893 scopus 로고
    • A sex chromosome anomaly in a case of gonadal sex dysgenesis (Turner's syndrome)
    • Ford CE Jones KW Polani P A sex chromosome anomaly in a case of gonadal sex dysgenesis (Turner's syndrome) Lancet 1 1959 711 713
    • (1959) Lancet , vol.1 , pp. 711-713
    • Ford, CE1    Jones, KW2    Polani, P3
  • 13
    • 0028135336 scopus 로고
    • Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
    • Foster JW Dominguez-Steglich MA Guioli S Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene Nature 372 1994 525 530
    • (1994) Nature , vol.372 , pp. 525-530
    • Foster, JW1    Dominguez-Steglich, MA2    Guioli, S3
  • 14
  • 15
    • 0031155770 scopus 로고    scopus 로고
    • Two uses for old SOX
    • Graves JAM Two uses for old SOX Nature Genetics 16 1997 114 115
    • (1997) Nature Genetics , vol.16 , pp. 114-115
    • Graves, JAM1
  • 16
    • 0025328296 scopus 로고
    • A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryologically expressed genes
    • Gubbay J Collignon J Koopman P A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryologically expressed genes Nature 346 1990 245 250
    • (1990) Nature , vol.346 , pp. 245-250
    • Gubbay, J1    Collignon, J2    Koopman, P3
  • 17
    • 0021274306 scopus 로고
    • Human XX males with Y single-copy DNA fragments
    • Guellaen G Casanova M Bishop C Human XX males with Y single-copy DNA fragments Nature 307 1984 172 173
    • (1984) Nature , vol.307 , pp. 172-173
    • Guellaen, G1    Casanova, M2    Bishop, C3
  • 19
    • 0026509548 scopus 로고
    • DNA binding activity of recombinant SRY derived from normal males and XY females
    • Harley VR Jackson DI Hextal PJ DNA binding activity of recombinant SRY derived from normal males and XY females Science 255 1992 453 456
    • (1992) Science , vol.255 , pp. 453-456
    • Harley, VR1    Jackson, DI2    Hextal, PJ3
  • 20
    • 0011439555 scopus 로고
    • Clinical Embryology
    • Harrison RG Clinical Embryology 1978 Academic Press
    • (1978)
    • Harrison, RG1
  • 21
    • 0028587166 scopus 로고
    • The genetics of Wilms' tumor—A case of disrupted development
    • Hastie ND The genetics of Wilms' tumor—A case of disrupted development Annual Review of Genetics 28 1994 523 558
    • (1994) , pp. 523-558
    • Hastie, ND1
  • 22
    • 0027533012 scopus 로고
    • SRY recognizes conserved DNA sites in sex-specific promoters
    • Haqq CM King CY Donahoe PK Weiss MA SRY recognizes conserved DNA sites in sex-specific promoters Proceedings of the National Academy of Science of the USA 90 1993 1097 1101
    • (1993) , pp. 1097-1101
    • Haqq, CM1    King, CY2    Donahoe, PK3    Weiss, MA4
  • 23
    • 0028276035 scopus 로고
    • Developmental expression of mouse steroidogenic factor 1, an essential regulator of the steroid hydroxylases
    • Ikeda Y Shen W-H Ingram HA Parker KL Developmental expression of mouse steroidogenic factor 1, an essential regulator of the steroid hydroxylases Molecular Endocrinology 8 1994 654 662
    • (1994) Molecular Endocrinology , vol.8 , pp. 654-662
    • Ikeda, Y1    Shen, W-H2    Ingram, HA3    Parker, KL4
  • 24
    • 0028959656 scopus 로고
    • The nuclear receptor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus
    • Ikeda Y Luo X Abbud R The nuclear receptor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus Molecular Endocrinology 9 1995 478 486
    • (1995) Molecular Endocrinology , vol.9 , pp. 478-486
    • Ikeda, Y1    Luo, X2    Abbud, R3
  • 25
    • 0029919960 scopus 로고    scopus 로고
    • A novel mutation in the putative DNA helicase XH2 is responsible for male to female sex reversal associated with an atypical form of the ATRX syndrome
    • Ion A Telvi L Chaussin JL A novel mutation in the putative DNA helicase XH2 is responsible for male to female sex reversal associated with an atypical form of the ATRX syndrome American Journal of Human Genetics 58 1996 1185 1191
    • (1996) American Journal of Human Genetics , vol.58 , pp. 1185-1191
    • Ion, A1    Telvi, L2    Chaussin, JL3
  • 26
    • 33747686159 scopus 로고
    • A case of human intersexuality having a possible XXY sex determining mechanism
    • Jacobs PA Strong JA A case of human intersexuality having a possible XXY sex determining mechanism Nature 183 1959 302 303
    • (1959) Nature , vol.183 , pp. 302-303
    • Jacobs, PA1    Strong, JA2
  • 28
    • 0029838394 scopus 로고    scopus 로고
    • A male specific role for SOX9 in vertebrate sex determination
    • Kent J Wheatley SC Andrews JE A male specific role for SOX9 in vertebrate sex determination Development 122 1996 2813 2822
    • (1996) Development , vol.122 , pp. 2813-2822
    • Kent, J1    Wheatley, SC2    Andrews, JE3
  • 29
    • 0025243412 scopus 로고
    • Expression of a candidate sex-determining gene during mouse testis differentiation
    • Koopman P Munsterberg A Capel B Expression of a candidate sex-determining gene during mouse testis differentiation Nature 348 1990 450 452
    • (1990) Nature , vol.348 , pp. 450-452
    • Koopman, P1    Munsterberg, A2    Capel, B3
  • 30
    • 0025877323 scopus 로고
    • Male development of chromosomally female mice transgenic for Sry
    • Koopman P Gubbay J Vivian N Male development of chromosomally female mice transgenic for Sry Nature 351 1991 117 121
    • (1991) Nature , vol.351 , pp. 117-121
    • Koopman, P1    Gubbay, J2    Vivian, N3
  • 31
    • 0027182741 scopus 로고
    • WT-1 is required for early kidney development
    • Kreidberg JA Sariola H Loring JM WT-1 is required for early kidney development Cell 74 1993 679 691
    • (1993) Cell , vol.74 , pp. 679-691
    • Kreidberg, JA1    Sariola, H2    Loring, JM3
  • 32
    • 0029769509 scopus 로고    scopus 로고
    • Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation
    • Kwok C Goodfellow PN Hawkins JR Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation Journal of Medical Genetics 33 1996 800 801
    • (1996) Journal of Medical Genetics , vol.33 , pp. 800-801
    • Kwok, C1    Goodfellow, PN2    Hawkins, JR3
  • 33
    • 0028882260 scopus 로고
    • Mutations in SOX9 the gene responsible for campomelic dysplasia and sex reversal
    • Kwok C Weller PA Guioli S Mutations in SOX9 the gene responsible for campomelic dysplasia and sex reversal American Journal of Human Genetics 57 1995 1028 1036
    • (1995) American Journal of Human Genetics , vol.57 , pp. 1028-1036
    • Kwok, C1    Weller, PA2    Guioli, S3
  • 34
    • 0031149631 scopus 로고    scopus 로고
    • Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy
    • Laporte J Kioschis P Hu L-J Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy Genomics 41 1997 458 462
    • (1997) Genomics , vol.41 , pp. 458-462
    • Laporte, J1    Kioschis, P2    Hu, L-J3
  • 35
    • 0030899814 scopus 로고    scopus 로고
    • SOX9 is a potent activator of the chondrocyte-specific enhancer of the proα1(II) collagen gene
    • Lefebvre V Huang W Harley VR SOX9 is a potent activator of the chondrocyte-specific enhancer of the proα1(II) collagen gene Molecular and Cellular Biology 17 1997 2336 2346
    • (1997) Molecular and Cellular Biology , vol.17 , pp. 2336-2346
    • Lefebvre, V1    Huang, W2    Harley, VR3
  • 36
    • 0028944669 scopus 로고
    • Role of steroidogenic acute protein in adrenal and gonadal steroidogenesis
    • Lin D Suguwara T Strauss JF Role of steroidogenic acute protein in adrenal and gonadal steroidogenesis Science 267 1995 1828 1831
    • (1995) Science , vol.267 , pp. 1828-1831
    • Lin, D1    Suguwara, T2    Strauss, JF3
  • 37
    • 0030891372 scopus 로고    scopus 로고
    • A clinical overview of WT1 gene mutations
    • Little M Wells C A clinical overview of WT1 gene mutations Human Mutation 9 1997 209 225
    • (1997) Human Mutation , vol.9 , pp. 209-225
    • Little, M1    Wells, C2
  • 38
    • 0028303959 scopus 로고
    • A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
    • Luo X Ikeda Y Parker KL A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation Cell 77 1994 481 490
    • (1994) Cell , vol.77 , pp. 481-490
    • Luo, X1    Ikeda, Y2    Parker, KL3
  • 39
    • 0027274644 scopus 로고
    • Steroidogenic factor 1, an orphan nuclear receptor, regulates the expression of the rat aromatase gene in gonadal tissues
    • Lynch JP Lala DS Peluso JJ Steroidogenic factor 1, an orphan nuclear receptor, regulates the expression of the rat aromatase gene in gonadal tissues Molecular Endocrinology 7 1993 776 786
    • (1993) Molecular Endocrinology , vol.7 , pp. 776-786
    • Lynch, JP1    Lala, DS2    Peluso, JJ3
  • 41
    • 8044219672 scopus 로고    scopus 로고
    • Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations
    • Meyer J Sudbeck P Held M Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations Human Molecular Genetics 6 1997 91 98
    • (1997) Human Molecular Genetics , vol.6 , pp. 91-98
    • Meyer, J1    Sudbeck, P2    Held, M3
  • 43
    • 0028999664 scopus 로고
    • Absence of mutations in the WT1 gene with XY gonadal dysgenesis
    • Nordenskjold A Fricke G Anvret M Absence of mutations in the WT1 gene with XY gonadal dysgenesis Human Genetics 96 1995 102 104
    • (1995) Human Genetics , vol.96 , pp. 102-104
    • Nordenskjold, A1    Fricke, G2    Anvret, M3
  • 44
    • 0026532065 scopus 로고
    • Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene, located in distal Xp, involved in testis formation
    • Ogata T Hawkins JR Taylor A Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene, located in distal Xp, involved in testis formation Journal of Medical Genetics 29 1992 226 230
    • (1992) Journal of Medical Genetics , vol.29 , pp. 226-230
    • Ogata, T1    Hawkins, JR2    Taylor, A3
  • 45
    • 0025291908 scopus 로고
    • The candidate Wilms' tumour gene is involved in genitourinary development
    • Pritchard-Jones K Fleming S Davidson D The candidate Wilms' tumour gene is involved in genitourinary development Nature 346 1990 194 197
    • (1990) Nature , vol.346 , pp. 194-197
    • Pritchard-Jones, K1    Fleming, S2    Davidson, D3
  • 46
    • 0032509983 scopus 로고    scopus 로고
    • Evidence for evolutionary conservation of sex-determining genes
    • Raymond CS Shamu CE Shen MM Evidence for evolutionary conservation of sex-determining genes Nature 391 1998 691 695
    • (1998) Nature , vol.391 , pp. 691-695
    • Raymond, CS1    Shamu, CE2    Shen, MM3
  • 47
    • 0028905544 scopus 로고
    • Requirement for Lim1 in head-organizer function
    • Shawlot W Behringer RR Requirement for Lim1 in head-organizer function Nature 374 1995 425 430
    • (1995) Nature , vol.374 , pp. 425-430
    • Shawlot, W1    Behringer, RR2
  • 48
    • 0028308118 scopus 로고
    • Nuclear receptor steroidogenic factor-1 regulates the Mullerian-inhibiting substance gene—a link to the sex determination cascade
    • Shen WH Moore CCD Ikeda Y Nuclear receptor steroidogenic factor-1 regulates the Mullerian-inhibiting substance gene—a link to the sex determination cascade Cell 77 1994 651 661
    • (1994) Cell , vol.77 , pp. 651-661
    • Shen, WH1    Moore, CCD2    Ikeda, Y3
  • 49
    • 0029742909 scopus 로고    scopus 로고
    • Sox9 expression during gonadal development implies a conserved role for the development in testis differentiation in mammals and birds
    • Silva SM da Hacker A Harley V Sox9 expression during gonadal development implies a conserved role for the development in testis differentiation in mammals and birds Nature Genetics 14 1996 62 68
    • (1996) Nature Genetics , vol.14 , pp. 62-68
    • Silva, SM da1    Hacker, A2    Harley, V3
  • 50
    • 0025364886 scopus 로고
    • A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
    • Sinclair AH Berta P Palmer MS A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif Nature 346 1990 240 244
    • (1990) Nature , vol.346 , pp. 240-244
    • Sinclair, AH1    Berta, P2    Palmer, MS3
  • 51
    • 0029912474 scopus 로고    scopus 로고
    • Mouse Daxl expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
    • Swain A Zanaria E Hacker A Mouse Daxl expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function Nature Genetics 12 1996 404 409
    • (1996) Nature Genetics , vol.12 , pp. 404-409
    • Swain, A1    Zanaria, E2    Hacker, A3
  • 52
    • 0032546009 scopus 로고    scopus 로고
    • Daxl antagonizes Sry action in mammalian sex determination
    • Swain A Narvaez V Burgoyne P Daxl antagonizes Sry action in mammalian sex determination Nature 391 1998 761 767
    • (1998) Nature , vol.391 , pp. 761-767
    • Swain, A1    Narvaez, V2    Burgoyne, P3
  • 54
    • 0027324549 scopus 로고
    • Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPDI) to 17q24.3—q25.1
    • Tommerup N Schempp W Meinecke P Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPDI) to 17q24.3—q25.1 Nature Genetics 4 1993 170 174
    • (1993) Nature Genetics , vol.4 , pp. 170-174
    • Tommerup, N1    Schempp, W2    Meinecke, P3
  • 55
  • 56
    • 0028589588 scopus 로고
    • Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the Sry-related gene SOX9
    • Wagner T Wirth J Meyer J Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the Sry-related gene SOX9 Cell 79 1994 1111 1120
    • (1994) Cell , vol.79 , pp. 1111-1120
    • Wagner, T1    Wirth, J2    Meyer, J3
  • 57
    • 0027198809 scopus 로고
    • Complete and partial XY sex reversal associated with terminal deletion of l0q: report of 2 cases and literature review
    • Wilkie AO Campbell FM Daubeney P Complete and partial XY sex reversal associated with terminal deletion of l0q: report of 2 cases and literature review American Journal of Medical Genetics 46 1993 597 600
    • (1993) American Journal of Medical Genetics , vol.46 , pp. 597-600
    • Wilkie, AO1    Campbell, FM2    Daubeney, P3
  • 58
    • 0029910994 scopus 로고    scopus 로고
    • Cloning and sequence analysis of the human gene encoding steroidogenic factor 1
    • Wong M Ramayya MS Chrousos GP Cloning and sequence analysis of the human gene encoding steroidogenic factor 1 Journal of Molecular Endocrinology 17 1996 139 147
    • (1996) Journal of Molecular Endocrinology , vol.17 , pp. 139-147
    • Wong, M1    Ramayya, MS2    Chrousos, GP3
  • 59
    • 0028830855 scopus 로고
    • The Sry-related gene is expressed during chondrogenesis in mouse embryos
    • Wright E Hargrave MR Christiansen J The Sry-related gene is expressed during chondrogenesis in mouse embryos Nature Genetics 9 1995 15 20
    • (1995) Nature Genetics , vol.9 , pp. 15-20
    • Wright, E1    Hargrave, MR2    Christiansen, J3
  • 60
    • 0028558750 scopus 로고
    • An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
    • Zanaria E Muscatelli F Bardoni B An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita Nature 372 1994 635 641
    • (1994) Nature , vol.372 , pp. 635-641
    • Zanaria, E1    Muscatelli, F2    Bardoni, B3
  • 61
    • 0030728417 scopus 로고    scopus 로고
    • DNA binding and transcriptional repression by DAX-I blocks steroidogenesis
    • Zazopoulos E Lalli E Stocco DM Sassone-Crosi P DNA binding and transcriptional repression by DAX-I blocks steroidogenesis Nature 390 1997 311 315
    • (1997) Nature , vol.390 , pp. 311-315
    • Zazopoulos, E1    Lalli, E2    Stocco, DM3    Sassone-Crosi, P4


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