OMIA:000901-9823 : XX difference of sexual development, generic in Sus scrofa (pig)
Categories: Reproductive system phene
Links to MONDO diseases:
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: This phene includes information about XX differences of sexual development (XX DSD) in animals with an XX karyotype for which the causal variant has so far not been identified. This phene has been renamed from 'XX testicular DSD (Disorder of Sexual Development)' [29/09/2023] and was previously known as Sex reversal: XX male or SRY-negative XX sex reversal.
Inheritance: Pailhoux et al. (1997) reported data suggestive of autosomal recessive inheritance, but Pailhoux et al. (2001) had to invoke more than one locus.
Mapping: By conducting a GWAS on 89 affected and 84 normal French Large White pigs, each genotyped with the PorcineSNP60 SNP chip (yielding 47,155 informative SNPs), Rousseau et al. (2013) mapped this disorder to a 3.14Mb region on chromosome SSC12 between 6,459,472 and 9,597,291 bp (Sscrofa10.2 draft sequence), with the most likely location being an 883kb segment within this region.
Molecular basis: Only one gene has been identified within the most likely SSC12 segment (see Mapping section), namely SOX9, but this is a strong candidate because of its well-documented involvement in testicular development. However, Rousseau et al. (2013) were not able to find any potentially causal mutations in this gene or in one of its main regulatory regions (Tesco). Furthermore, as reported by Rousseau et al. (2013), "haplotype analyses did not identify a shared homozygous segment between the affected pigs, suggesting either a lack of power due to the SNP properties of the chip, or a second causative locus".
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
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.
|2013||Rousseau, S., Iannuccelli, N., Mercat, M.J., Naylies, C., Thouly, J.C., Servin, B., Milan, D., Pailhoux, E., Riquet, J. :|
|A genome-wide association study points out the causal implication of SOX9 in the sex-reversal phenotype in XX pigs. PLoS One 8:e79882, 2013. Pubmed reference: 24223201. DOI: 10.1371/journal.pone.0079882.|
|2008||Larzul, C., Delaunay, I., Schwob, S., Mercat, M.J. :|
|Paramètres génétiques des principales anomalies congénitales porcines. 40es Journées de la Recherche Porcine, Paris FRANCE 40:141–142, 2008.|
|2002||Switonski, M., Jackowiak, H., Godynicki, S., Klukowska, J., Borsiak, K., Urbaniak, K. :|
|Familial occurrence of pig intersexes (38,XX; SRY-negative) on a commercial fattening farm Animal Reproduction Science 69:117-124, 2002. Pubmed reference: 11755722.|
|2001||Pailhoux, E., Mandon-Pepin, B., Cotinot, C. :|
|Mammalian gonadal differentiation: the pig model. Reprod Suppl 58:65-80, 2001. Pubmed reference: 11980203.|
|Pailhoux, E., Parma, P., Sundström, J., Vigier, B., Servel, N., Kuopio, T., Locatelli, A., Pelliniemi, L.J., Cotinot, C. :|
|Time course of female-to-male sex reversal in 38,XX fetal and postnatal pigs. Dev Dyn 222:328-40, 2001. Pubmed reference: 11747069. DOI: 10.1002/dvdy.1194.|
|1997||Pailhoux, E., Pelliniemi, L., Barbosa,A., Parma, P., Kuopio, T., Cotinot, C. :|
|Relevance of intersexuality to breeding and reproductive biotechnology programs; XX sex reversal in pigs. Theriogenology 47:93-102, 1997. DOI: 10.1016/S0093-691X(96)00343-3.|
|1996||Hunter, R.H. :|
|Aetiology of intersexuality in female (XX) pigs, with novel molecular interpretations. Mol Reprod Dev 45:392-402, 1996. Pubmed reference: 8916051. DOI: 10.1002/(SICI)1098-2795(199611)45:3<392::AID-MRD17>3.0.CO;2-0.|
|Hunter, R.H.F. :|
|Aetiology of intersexuality in female (XX) pigs, with novel molecular interpretations [Review] Molecular Reproduction & Development 45:392-402, 1996.|
|Hunter, R.H.F., Greve, T. :|
|Intersexuality in pigs - clinical, physiological and practical considerations Acta Veterinaria Scandinavica 37:1-12, 1996. Pubmed reference: 8659338.|
|1994||Pailhoux, E., Popescu, P.C., Parma, P., Boscher, J., Legault, C., Molteni, L., Fellous, M., Cotinot, C. :|
|Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs Animal Genetics 25:299-305, 1994. Pubmed reference: 7818163.|
|1989||Chalmers, C., Cook, B., Foxcroft, G.R., Hunter, R.H. :|
|Luteinizing hormone response to an oestradiol challenge in 5 intersex pigs possessing ovotestes. J Reprod Fertil 87:455-61, 1989. Pubmed reference: 2600902. DOI: 10.1530/jrf.0.0870455.|
|1971||Melander, Y., Hansen-Melander, E., Holm, L., Somlev, B. :|
|Seven swine intersexes with XX chromosome constitution Hereditas 69:51-57, 1971. Pubmed reference: 5173420.|
|1965||Hard, W.L., Eisen, J.D. :|
|A phenotypic male swine with a female karyotype Journal of Heredity 56:255-258, 1965. Pubmed reference: 5893033.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 15 Nov 2013