OMIA 000483-9925 : Polled/Horns in Capra hircus |
Using the goat SNP50 Bead Chip, Kijas et al. (2012) "collected and analysed genotypes from 52 088 SNPs in Boer, Cashmere and Rangeland goats that had both polled and horned individuals." In confirming the location of the polled locus on chromosome CHI1, they confirmed the mapping of this locus to a "769-kb critical interval . . . , confirming the genetic basis [of the polled intersex syndrome] in non-European animals is the same as identified previously in Saanen goats. Interestingly, analysis of the haplotypes carried by a small set of sex-reversed animals, known to be associated with polledness, revealed some animals carried the wild-type chromosome associated with the presence of horns. This suggests a more complex basis for the relationship between polledness and the intersex condition than initially thought".
Molecular basis: Exon-trapping and subsequent sequencing of the BAC clone that spanned the PIS locus enabled Pailhoux et al. (2001) to identify a gene they called PIS-regulated transcript 1 (PISRT1). The then showed that PIS is due to an 11.7 kb deletion of mainly repetitive DNA which affects the transcription of PISRT1 and a neighbouring gene FOXL2. As noted by the authors, "These two genes are located 20 and 200 kb telomeric from the deletion, respectively". Interestingly, a mutation of FOXL2 in humans gives rise to Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES; see MIM hyperlink above) which is a disorder somewhat similar to PIS.Further investigations enabled Pailhoux et al. (2005) to conclude that the deletion "is composed for 80% of two copies of a partial ruminant LINE (2.2 and 2.6 kilobases), oriented head to head, 25 kilobases apart from PISRT1." They also reported that "FOXL2 may be an ovary-differentiating gene, and the non-coding RNA PISRT1, an anti-testis factor repressing SOX9, a key regulator of testis differentiation. Under this hypothesis, SRY, the testis-determining factor would inhibit these two genes in the gonads of XY males, to ensure testis differentiation."
Allais-Bonnet et al. (2013) established a link between polledness in goats and cattle when they discovered that a trait strongly associated with polledness in cattle, namely two rows of eyelashes (distichiasis; OMIA 001841-9913), is caused in humans by mutations in FOXC2, which is a paralogue of FOXL2. Subsequent gene expression studies of this gene in tissues from polled and horned cattle led these authors to conclude that in both species "FOXL2 is involved in the negative regulation of horn bud differentiation (perhaps to control the diameter of the horn bud or to prevent horn growth before birth)".
Boulanger et al. (2014) provided strong evidence that "FOXL2 [is] a bona fide female sex-determining gene in the goat", i.e. that loss of function of FOXL2 is a sufficient explanation for PIS.
Clinical features: Vaiman et al. (1997) reported that all seven XX intersexes had two inguinally-located udders. Half the intersexes appeared to be closer to the female phenotype, and the other half were closer to males.The gonads of all animals contained seminiferous tubules lined by Sertoli cells. No germ cells were present. (Information collated by Helen Axtoll, Uppsala, March 1998) Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
FOXL2 | forkhead box L2 | Capra hircus | - | no genomic information (-..-) | FOXL2 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2014 | Boulanger, L., Pannetier, M., Gall, L., Allais-Bonnet, A., Elzaiat, M., Le Bourhis, D., Daniel, N., Richard, C., Cotinot, C., Ghyselinck, N.B., Pailhoux, E. : | |
FOXL2 Is a Female Sex-Determining Gene in the Goat. Curr Biol :, 2014. Pubmed reference: 24485832. DOI: 10.1016/j.cub.2013.12.039. | ||
Canisso, I., Coffee, L., Ortved, K., Fubini, S., Monteagudo, L., Schlafer, D., Gilbert, R. : | ||
Bilateral Sertoli and Interstitial Cell Tumours in Abdominal Testes of a Goat with Polled Intersex Syndrome (PIS). Reprod Domest Anim :, 2014. Pubmed reference: 25219569. DOI: 10.1111/rda.12408. | ||
2013 | Allais-Bonnet, A., Grohs, C., Medugorac, I., Krebs, S., Djari, A., Graf, A., Fritz, S., Seichter, D., Baur, A., Russ, I., Bouet, S., Rothammer, S., Wahlberg, P., Esquerré, D., Hoze, C., Boussaha, M., Weiss, B., Thépot, D., Fouilloux, M.N., Rossignol, M.N., van Marle-Köster, E., Hreiðarsdóttir, G.E., Barbey, S., Dozias, D., Cobo, E., Reversé, P., Catros, O., Marchand, J.L., Soulas, P., Roy, P., Marquant-Leguienne, B., Le Bourhis, D., Clément, L., Salas-Cortes, L., Venot, E., Pannetier, M., Phocas, F., Klopp, C., Rocha, D., Fouchet, M., Journaux, L., Bernard-Capel, C., Ponsart, C., Eggen, A., Blum, H., Gallard, Y., Boichard, D., Pailhoux, E., Capitan, A. : | |
Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae. PLoS One 8:e63512, 2013. Pubmed reference: 23717440. DOI: 10.1371/journal.pone.0063512. | ||
Szatkowska, I. , Jedrzejczak, M., Dybus, A., Wiszniewska, B., Udała, J., Zaborski, D., Wojcik, J., Stankiewicz, T. : | ||
Histological, molecular and transcriptional analysis of PIS goats Small Ruminant Research :, 2013. DOI: 10.1016/j.smallrumres.2013.11.009. | ||
2012 | Kijas, J.W., Ortiz, J.S., McCulloch, R., James, A., Brice, B., Swain, B., Tosser-Klopp, G. : | |
Genetic diversity and investigation of polledness in divergent goat populations using 52 088 SNPs. Anim Genet :, 2012. Pubmed reference: 23216229. DOI: 10.1111/age.12011. | ||
Pannetier, M., Elzaiat, M., Thépot, D., Pailhoux, E. : | ||
Telling the story of XX sex reversal in the goat: highlighting the sex-crossroad in domestic mammals. Sex Dev 6:33-45, 2012. Pubmed reference: 22094227. DOI: 10.1159/000334056. | ||
Yang, B., Jia, L.L., Zhao, D.C., Meng, L.Y., Liu, X.F., Zhang, Y.J., Zhang, W.G., Li, J.Q. : | ||
[Detection and application of PIS genetic deficiency gene in dairy goat]. Yi Chuan 34:895-900, 2012. Pubmed reference: 22805216. | ||
2011 | Yokota, S., Matsuu, A., Morita, T., Tsuka, T., Hishinuma, M., Minami, S., Hikasa, Y. : | |
Polled Intersex Syndrome with Urethral Atresia in a Goat. J Vet Med Sci :, 2011. Pubmed reference: 21646753. | ||
2005 | Pailhoux, E., Vigier, B., Schibler, L., Cribiu, EP., Cotinot, C., Vaiman, D. : | |
Positional cloning of the PIS mutation in goats and its impact on understanding mammalian sex-differentiation. Genet Sel Evol 37 Suppl 1:S55-64, 2005. Pubmed reference: 15601595. DOI: 10.1051/gse:2004025. | ||
Pannetier, M., Renault, L., Jolivet, G., Cotinot, C., Pailhoux, E. : | ||
Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter. Genomics 85:715-26, 2005. Pubmed reference: 15885498. DOI: 10.1016/j.ygeno.2005.02.011. | ||
2004 | Nikic, S., Vaiman, D. : | |
Conserved patterns of gene expression in mice and goats in the vicinity of the Polled Intersex Syndrome (PIS) locus. Chromosome Res 12:465-74, 2004. Pubmed reference: 15252242. DOI: 10.1023/B:CHRO.0000034746.46789.e0. | ||
2001 | Pailhoux, E., Vigier, B., Chaffaux, S., Servel, N., Taourit, S., Furet, J.P., Fellous, M., Grosclaude, F., Cribiu, E.P., Cotinot, C., Vaiman, D. : | |
A 11.7-kb deletion triggers intersexuality and polledness in goats Nature Genetics 29:453-458, 2001. Pubmed reference: 11726932. DOI: 10.1038/ng769. | ||
2000 | Schibler, L., Cribiu, E.P., Oustry-Vaiman, A., Furet, J.P., Vaiman, D. : | |
Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus syndrome map to a 100-kb homologous region Genome Research 10:311-318, 2000. Pubmed reference: 10720572. | ||
1999 | Vaiman, D., Schibler, L., Oustry-Vaiman, A., Pailhoux, E., Goldammer, T., Stevanovic, M., Furet, J.P., Schwerin, M., Cotinot, C., Fellous, M., Cribiu, E.P. : | |
High-resolution human/goat comparative map of the goat polled/intersex syndrome (PIS): The human homologue is contained in a human YAC from HSA3q23 Genomics 56:31-39, 1999. Pubmed reference: 10036183. DOI: 10.1006/geno.1998.5691. | ||
1998 | Flores, J.M., Sanchez, M.A., Gonzalez, M., Pizarro, M. : | |
Caprine testicular hypoplasia associated with sexual reversion decreases the expression of insulin-like growth factor ii (igf-ii) mrna in testes Animal Reproduction Science 52:279-288, 1998. Pubmed reference: 9821502. | ||
Lauvergne, J.J., Bouchel, D., Minivielle, F. : | ||
Morpho-biometrical study of rove goats - iii - horns length (hl) in both sexes and indexes of sexual dimorphism of horns (isdh) [French] Revue de Medecine Veterinaire 149:141-148, 1998. | ||
1997 | Hague, B.A., Hooper, R.N. : | |
Cosmetic dehorning in goats Veterinary Surgery 26:332-334, 1997. Pubmed reference: 9232792. | ||
Vaiman, D., Pailhoux, E., Schibler, L., Oustry, A., Chaffaux, S., Cotinot, C., Fellous, M., Cribiu, E.P. : | ||
Genetic mapping of the polled/intersex locus (pis) in goats Theriogenology 47:103-109, 1997. | ||
1996 | Flores, J.M., Sanchez, M.A., Rodriguez, A., Rex, E.M. : | |
Histopathological alterations of lamina propria and sertoli cells in severe testicular hypoplasia in polled goats Reproduction in Domestic Animals 31:349-352, 1996. | ||
Roberts, S.C. : | ||
The evolution of hornedness in female ruminants [Review] Behaviour 133:399-442, 1996. | ||
Vaiman, D., Koutita, O., Oustry, A., Elsen, J.M., Manfredi, E., Fellous, M., Cribiu, E.P. : | ||
Genetic mapping of the autosomal region involved in XX sex-reversal and horn development in goats Mammalian Genome 7:133-137, 1996. Pubmed reference: 8835530. | ||
1995 | Hull, B.L. : | |
Dehorning the adult goat Veterinary Clinics of North America - Food Animal Practice 11:183-185, 1995. | ||
1993 | Margetin, M. : | |
Visible Genetic Profile and Polymorphic Systems in Goats Raised in Slovakia Zivocisna Vyroba 38:491-501, 1993. | ||
Yadav, B.R., Singh, C., Kumar, P., Tomer, O.S., Yadav, J.S. : | ||
Morphological, Anatomical and Cytogenetical Investigations in Sexually Anomalous Goats Small Ruminant Research 11:331-342, 1993. | ||
1990 | Vallenzasca, C., Galli, A. : | |
Cytogenetical and Histopathologic Study of 2 Cases of Polled Goats Andrologia 22:289-290, 1990. Pubmed reference: 2240625. | ||
1988 | Millar, P. : | |
The principal loci with visible effects in goats :41-51, 1988. | ||
Ramadan, R.O., Hassan, A.M.E. : | ||
Intersexuality in goats New Zealand Veterinary Journal 36:120-124, 1988. | ||
1987 | Lauvergne, J.J., Renieri, C., Audiot, A. : | |
Estimating erosion of phenotypic variation in a French goat population Journal of Heredity 78:307-314, 1987. Pubmed reference: 3680926. | ||
Rodrigues, M.T., Espeschit, C.J.B. : | ||
[Hornlessness and the incidence of intersexuality in goats] Informe Agropecuaria 13:12-16, 1987. | ||
1985 | Bacalhau, A.S., Souza, W.H., Rodrigues, A., Pant, K.P. : | |
[Polledness as a factor affecting intersexuality in German Fawn kids in Paraiba] Revista Brasileira de Reproducao Animal 9:35-39, 1985. | ||
1981 | Constantinou, A., Louca, A., Mavrogenis, A.P. : | |
The effect of the gene for polledness on conception rate and litter size in the Damascus goat Annales de Genetique et de Selection Animale 13:111-118, 1981. | ||
Ricordeau, G., Sanchez, F : | ||
Horned gene frequencies in 4 French goat breeds Annales de Genetique et de Selection Animale 13:353-, 1981. | ||
Ricordeau, G., Sanchez, G.F.F : | ||
[Changes in the frequencies of horned animals in four types of French goat] Annales de Genetique et de Selection Animale 13:353-362, 1981. | ||
1969 | Basrur, P.K. : | |
Some thoughts on the association of polled trait and intersexuality in goats Annales de Genetique et de Selection Animale 1:439-446, 1969. | ||
Lauvergne, J.J. : | ||
Progress in genetic knowledge of intersexuality associated with polledness in the goat of alpine origin Annales de Genetique et de Selection Animale 1:403-412, 1969. | ||
Lauvergne, J.J. : | ||
Frequency at equilibrium of the gene of alpine origin responsible for polledness and intersexuality in some populations of goats Annales de Genetique et de Selection Animale 1:413-422, 1969. | ||
1967 | Ricordeau, G., Lauvergne, J.J. : | |
A single genetic hypothesis to account for the presence of intersexual animals, of males in excess and infertile males in 'Saanen' goats Annales de Zootechnie 16:323-334, 1967. | ||
1963 | Soller, M., Laor, M., Barnea, R., Weiss, Y., Ayalon, N. : | |
Polledness and infertility in male Saanen goats Journal of Heredity 54:237-240, 1963. Pubmed reference: 14086178. | ||
1962 | Laor, M., Barnea, R., Angel, H., Soller, M. : | |
Polledness and hermaphroditism in Saanen goats Israel Journal of Agricultural Research 12:83-88, 1962. | ||
1961 | Dejong, S. : | |
[Is there a relationship between the horned condition in goats and the production of intersexes, male infertility and disturbed sex ratio?] Tijdschrift voor Diergeneeskunde 86:58-59, 1961. | ||
1960 | Dejong, S. : | |
[Is there a relationship between the horned condition in goats and the production of intersexes, male infertility and disturbed sex ratio?] Geitehouder 23:40 only, 1960. | ||
1945 | Eaton, O.N. : | |
The Relation between Polled and Hermaphroditic Characters in Dairy Goats. Genetics 30:51-61, 1945. Pubmed reference: 17247145. | ||
1944 | Asdell, S.A. : | |
The genetic sex of intersexual goats and a probable linkage with the gene for hornlessness. Science 99:124, 1944. Pubmed reference: 17814292. DOI: 10.1126/science.99.2563.124. | ||
1939 | Eaton, O.N., Simmons, V.L. : | |
Hermaphrodism in milk goats Journal of Heredity 30:261-266, 1939. | ||
1926 | Lush, J.L. : | |
Inheritance of horns, wattles and colour in grade Toggenburg goats Journal of Heredity 17:73-90, 1926. |
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