OMIA 000901-9823 : XX testicular DSD (Disorder of Sexual Development) in Sus scrofa

In other species: goat , llama , common carp , dog , horse , Japanese medaka , domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 278850 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Previously known as Sex reversal: XX male or SRY-negative XX sex reversal. The present name (XX testicular DSD) corresponds to the recommendations on nomenclature for disorders of sexual development (DSD) proposed by Lee et al. (Pediatrics 2006;118;e488; DOI: 10.1542/peds.2006-0738).

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".


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.
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.
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.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 15 Nov 2013