Abstract
Contrary to other genetic disorders, the genetic study of sex determination anomalies in humans stumbles over the difficulty in observing large pedigrees. In goats, abnormalities in sex determination are intimately linked to a dominant Mendelian gene coding for the “polled” (hornless) character, which could render this species an interesting animal model for the rare human cases of SRY-negative XX males. In this report, we describe genetic linkage between the polled/intersex synchome (PIS) and four microsatellite markers of the distal region of goat Chromosome 1 (CHI1), quite distinct from the bovine “polled” region. According to comparative mapping data, no sex-determining gene has been described so far in homologous regions in the human. This genetic localization constitutes a first step towards identifying a new autosomal sex-determining gene in mammals.
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Abbas, N.E., Toublanc, J.E., Boucekkine, C., Toublanc, M., Affara, N.A., Job, J.C., Fellous, M. (1990). A possible common origin of Y-negative human xx males and xx true hermaphrodites. Hum. Genet. 84, 356–360.
Allard, M.W., Miyamoto, M.M., Jarecki, L., Kraus, F., Tennant, M.R. (1992). DNA systematics and evolution of the artiodactyl family Bo-vidae. Proc. Natl. Acad. Sci. USA 89, 3972–3975.
Arevalo, E., Holder, D.A., Derr, J.N., Bhebhe, E., Linn, R.A., Ruvuna, F., Davis, S.K., Taylor, J.F. (1994). Caprine microsatellite dinucleotide repeat polymorphisms at the SR-CRSP-1, SR-CRSP-2, SR-CRSP-3, SR-CRSP-4, SR-CRSP-5 loci. Anim. Genet. 25, 202.
Asdell, S.A. (1944). The genetic sex on intersexual goats and a probable linkage with the gene for hornlessness. Science 99, 124.
Bardoni, B., Zanaria, E., Guioli, G., Floridia, G., Worley, K.C., Tonini, G., Ferrante, E., Chiumello, G., McCabe, E.R.B., Fraccaro, M., Zuffardi, O., Camerino, G. (1994). A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genet. 7, 497–501.
Barendse, W., Armitage, S.M., Kossarek, L.M., Shalom, A., Kirkpatrick, B.W., Ryan, A.M., Clayton, D., Li, L., Neibergs, H.L., Zhang, N., Grosse, W.M., Weiss, J., Creighton, P., McCarthy, F., Ron, M., Teale, Ai., Fries, R., McGraw, R.A., Moore, S.S., Georges, M., Soller, M., Womack, J.E., Hetzel, D.J.S. (1994). A genetic linkage map of the bovine genome. Nature Genet. 6, 227–234.
Basrur, P.K. (1969). Some thoughts about the association of polled trait and intersexuality in goats. Ann. Génét. Sél. Anim. 1, 439–446.
Bennett, C.P., Docherty, Z., Robb, S.A., Ramani, P., Hawkins, J.R., Grant, D. (1993). Deletion 9p and sex reversal, J. Med. Genet. 30, 518–520.
Bhebhe, E., Kogi, J., Holder, D.A., Arevalo, E., Derr, J.N., Linn, R.A., Ruvuna, F., Davis, S.K., Taylor, J.F. (1994). Caprine microsatellite dinucleotide repeat polymorphisms at the SR-CRSP-6, SR-CRSP-7, SR-CRSP-8, SR-CRSP-9, SR-CRSP-10 loci. Anim. Genet. 25, 203.
Bishop, M.D., Kappes, S.M., Keele, J.W., Stone, R.T., Sunden, S.L.F., Hawkins, G.A., Solinas Toldo, S., Fries, R., Grosz, M.D., Yoo Jakyoung, Beattie, C.W. (1994). A genetic linkage map for cattle. Genetics 136, 619–639.
Callen, D.F., Thompson, A.D., Shen, Y., Phillips, H.A., Richards, R.I., Mulley, J.C., Sutherland, G.R. (1993). Incidence and origin of “null” alleles in the (AC)n microsatellite markers. Am. J. Hum. Genet. 52, 922–927.
Chaffaux, S., Cribiu, E.P. (1991). Clinical, histological and cytogenetic observations of nine intersex dogs. Genet. Sel. Evol. 23, 81s-84s.
Cockett, N.E., Jackson, S.P., Shay, T.L., Nielsen, D., Moore, S.S., Steele, M.R., Barendse, W., Green, R.D., Georges, M. (1994). Chromosomal localization of the callipyge gene in sheep (Ovis aries) using bovine DNA markers. Proc. Natl. Acad. Sci. USA 91, 3019–3023.
Cohen-Haguenauer, O., Picard, J.Y., Mattei, M.G. (1987). Mapping of the gene for anti-Mullerian hormone to the short arm of human chromosome 19. Cytogenet. Cell Genet. 44, 2–6.
Crawford, A.M., Dodds, K.G., Pierson, C.A., Ede, A.J., Montgomery, G.W., Garmonsway, H.G., Beattie, A.E., Davies, K., Maddox, J.F., Kappes, S.W., Stone, R.T., Nguyen, T.C., Penty, J.M., Lord, E.A., Broom, J.E., Buitkamp, J., Schwenger, W., Epplen, J.T., Matthew, P., Matthews, M.E., Hulme, D.J., Beh, K.J., McGraw, R.A., Beattie, C.W. (1995). An autosomal genetic linkage map of the sheep genome. Genetics 140, 703–724.
De la Chapelle, A. (1972). Analytic review: nature of origin of males with XX sex chromosomes. Am. J. Hum. Genet. 24, 71–105.
Dubin, R.A., Ostrer, H. (1994). SRY is a transcriptional activator. Mol. Endocrinol. 8, 1182–1192.
Foster, J., Dominguez-Steglich, M.A., Guioli, S., Kwok, C., Weller, P.A., Stevanovic, 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 a SRY-related gene. Nature 372, 525–529.
Georges, M., Drinkwater, R., King, T., Mishra, A., Moore, S.S., Nielsen, D., Sargeant, L.S., Sorensen, A., Steele, M.R., Zhao, X., Womack, J.E., Hetzel, J. (1993). Microsatellite mapping of a gene affecting horn development in Bos taurus. Nature Genet. 4, 206–210.
Gerneke, W.H., Coubrough, R.I. (1970). Intersexuality in the horse. Onder-stepoort J. Vet Res. 37, 211–216.
Gibbons, R.J., Picketts, D.J., Villard, L., Higgs, D.R. (1995). Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80, 837–845.
Green, P., Falls, K., Crooks, S. ({dy1989}). Documentation for CRI-MAP, version 2.4 St Louis,
Hawkins, J.R. (1994). Sex determination. Hum. Mol. Genet. 3, 1463–1467.
(1995). Chromosome painting with human chromosome specific DNA libraries reveals the extent and the distribution of conserved segments in bovine chromosomes. Cytogenet. Cell Genet., in press.
Hulot, F., Basrur, P.K. (1969). La détermination du sexe chromosomique dans l’étude de l’intersexualité associée à l’absence de cornes chez la chèvre d’origine alpine. Ann. Génét. Sél. Anim. 1, 403–412.
ISCNDA1989(1990). International System for Cytogenetics Nomenclature of Domestic Animals. Cytogenet. Cell Genet. 53, 65–79.
Jeanpierre, M. (1987). A rapid method for purification of DNA from blood. Nucleic Acids Res. 15, 9611.
Koopman, P., Gubbay, J., Vivian, N., Goodfellow, P., Lovell-Badge, R. (1991). Male development of chromosomally female mice transgenic for Sry. Nature 351, 117–121.
Mannens, M., Slater, R.M., Heiting, C., Bliek, J., de Kraker, J., Coad, N., de Pagter-Holthuizen, P., Pearson, P.L. (1988). Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilm’s tumour. Hum. Genet. 81, 41–48.
McElreavey, K., Vilain, E., Abbas, N., Costa, J.M., Souleyreau, N., Kucheria, K., Boucekkine, C., Thibaud, E., Brauner, R., Flamant, F. (1992). XY sex reversal associated with a deletion 5′to the SRY ‘HMG’ box in the testis determining region. Proc. Natl. Acad. Sci. USA 89, 11016–11020.
McElreavey, K., Vilain, E., Abbas, N., Herskovitz, I., Fellous, M. (1993). A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc. Natl. Acad. Sci. USA 90, 3368–3372.
McFeely, R.A., Hare, W.C.D., Biggers, J.D. (1967). Chromosome studies in 14 cases of intersex domestic mammals. Cytogenetics 6, 242–253.
McLaren, A. (1981). The fate of germ cells in the testis of fetal sex-reversed males. J. Reprod. Fertil. 61, 461–467.
Moore, S.S., Sargeant, L.L., King, T.J., Mattick, J.S., Georges, M., Hetzel, D.J.S. (1991). The conservation of dinucleotide microsatellites among mammalian genomes allows the use of heterologous PCR primer pairs in closely related species. Genomics 10, 654–660.
Moore, S.S., Byrne, K., Berger, K.T., Barendse, W., McCarthy, F., Womack, J.E., Hetzel, D.J.S. (1994). Characterization of 65 bovine microsatellites. Mamm. Genome 5, 84–90.
O’Brien, S.J., Womack, J.E., Lyons, L.A., Moore, K.J., Jenkins, N.A., Copeland, N.G. (1993). Anchored reference loci for comparative genome mapping in mammals. Nature Genet. 3, 103–112.
Pailhoux, E., Cribiu, E.P., Chaffaux, S., Darre, R., Fellous, M., Cotinot, C. (1994a). Molecular analysis of 60,XX pseudohermaphrodite polled goats for the presence of SRY and ZFY genes. J. Reprod. Fertil. 100, 491–496.
Pailhoux, E., Popescu, P.C., Parma, P., Boscher, J., Legault, C., Molteni, L., Fellous, M., Cotinot, C. (1994b). Genetic analysis of 38,XX males with genital ambiguities and true hermaphrodites in pigs. Anim. Genet. 25, 299–305.
Pépin, L., Amigues, Y., Lépingle, A., Berthier, J.-L., Bensaïd, A., Vaiman, D. (1995). Sequence conservation of microsatellites between cattle (Bos taurus) and goat (Capra hircus), and related species. Examples of use in parentage testing and phytogeny analysis. Heredity 74, 53–61.
Randi, E., Fusco, G., Lorenzini, R., Toso, S., Tosi, G. (1991). Allozyme divergence and phylogenetic relationships among Capra, Ovis and Rupicapra (Artyodactyla, Bovidae). Heredity 67, 281–286.
Ricordeau, G. (1969). Surprolificité des génotypes sans cornes dans les races caprines alpine saanen, alpine chamoisée et poitevine. Ann. Génét. Sél. Anim. 1, 391–395.
Ricordeau, G. (1972). Distinction phénotypique des caprins homo et hétérozygotes sans cornes. Ann. Génét. Sél. Anim. 4, 469–475.
Ricordeau, G., Lauvergne, J.-J. (1967). Hypothèse génétique unique pour expliquer la présence d’intersexués, de mâles en excès et de mâles stériles en race caprine saanen. Ann. Zootech. 16, 323–334.
Soller, M., Angel, H. (1964). Polledness and abnormal sex ratios in saanen goats. J. Hered. 55, 139–142.
Soller, M., Laor, M., Barnea, R., Weiss, R., Ayalon, N. (1963). Polledness and infertility in male saanen goats. J. Hered. 54, 237–240.
Stevanovic, M., Zuffardi, O., Collignon, J., Lovell-Badge, R., Goodfellow, P. (1994). The cDNA sequence and chromosomal location of the human SOX2 gene. Mamm. Genome 5, 640–642.
Tommerup, N., Schempp, W., Meinecke, P., Pedersen, S., Bolund, L., Brandt, C., Goodpasture, C., Guldberg, P., Held, K.R., Reinwein, H., Saugstad, O.D., Scherer, G., Skjedal, O., Toder, R., Westvik, J., van der Hagen, C.B., Wolf, U. (1993). Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1. Nature Genet. 4, 170–173.
Vaiman, D., Mercier, D., Moazami-Goudarzi, K., Eggen, A., Ciampolini, R., Lépingle, A., Velmala, R., Kaukinen, J., Varvio, S.-L., Martin, P., Levéziel, H., Guérin, G. (1994). A set of 99 cattle microsatellites: characterization, synteny mapping and polymophism. Mamm. Genome 5, 288–297.
Washburn, L.L., Eicher, E.M. (1983). Sex reversal in XY mice caused by a dominant mutation on chromosome 17. Nature 303, 338–340.
Wilkie, A.O.M., Campbell, F.M., Daubeney, P., Grant, D.B., Daniels, R.J., Mullarkey, M., Affara, N.A., Fitchett, M., Huson, S.M. (1993). Complete and partial XY sex reversal associated with terminal deletion 10q—report of 2 cases and literature review. Am. J. Med. Genet. 46, 597–600.
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Vaiman, D., Koutita, O., Oustry, A. et al. Genetic mapping of the autosomal region involved in XX sex-reversal and horn development in goats. Mammalian Genome 7, 133–137 (1996). https://doi.org/10.1007/s003359900033
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DOI: https://doi.org/10.1007/s003359900033