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OMIA:000901-9823 : XX difference of sexual development, generic in Sus scrofa (pig)

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

Categories: Reproductive system phene

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: unknown

Disease-related: 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".
Wu et al. (2024) used whole-genome sequencing and de novo assembly to study normal female and XX DSD pigs and identified "IFITM1 (c.218T > C), NOBOX (c.1043 C > G), and a 70 bp deletion fragment of the WWOX" as variants of interest. "The expression levels of these three candidate genes in the gonads of XX DSD pigs were significantly different from those of normal female pigs.'

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000901-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2024 Wu, J., Yu, H., Zhang, Y., Zhao, H., Zhong, B., Yu, C., Feng, Z., Yu, H., Li, H. :
Pathological characteristics of SRY-negative 38,XX-DSD pigs: A family case report. Anim Reprod Sci 270:S0378-4320(24)00170-2:107579, 2024. Pubmed reference: 39190944. DOI: 10.1016/j.anireprosci.2024.107579.
Wu, J., Tan, S., Feng, Z., Zhao, H., Yu, C., Yang, Y., Zhong, B., Zheng, W., Yu, H., Li, H. :
Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs. Biol Sex Differ 15:68, 2024. Pubmed reference: 39223676. DOI: 10.1186/s13293-024-00644-w.
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 Anim Reprod Sci 69:117-24, 2002. Pubmed reference: 11755722. DOI: 10.1016/s0378-4320(01)00168-3.
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 Vet Scand 37:1-12, 1996. Pubmed reference: 8659338. DOI: 10.1186/BF03548114.
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 Anim Genet 25:299-305, 1994. Pubmed reference: 7818163. DOI: 10.1111/j.1365-2052.1994.tb00362.x.
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 69:51-8, 1971. Pubmed reference: 5173420. DOI: 10.1111/j.1601-5223.1971.tb02417.x.
1965 Hard, W.L., Eisen, J.D. :
A phenotypic male swine with a female karyotype J Hered 56:254-8, 1965. Pubmed reference: 5893033.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 15 Nov 2013
  • Changed by Imke Tammen2 on 04 Sep 2024