Biology:PISRT1

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A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


PISRT1 (polled intersex syndrome regulated transcript 1) is a long non-coding RNA. It was originally thought to be implicated in the polled intersex (PIS) mutation in goats,[1] but this has been shown to not be the case.[2] It has also been shown not to be involved in sex determination in the rodent Ellobius lutescens and in dogs, and is unlikely to be involved in sex-specific gonad differentiation in mice.[3][4][5]

Polled Intersex Syndrome (PIS) is a disorder of sexual development seen in goats. The disorder shows an association with the polled phenotype and intersexuality. XX goats present with testes and are SRY negative. Studies have shown that PIS is caused by a deletion of a 10.1-kb DNA element which regulates the transcription of both PISRT1 and FOXL2,[6][7] with the latter having been shown to be responsible for sex-determination in goats.[8]

See also

  • Long noncoding RNA

References

  1. "A 11.7-kb deletion triggers intersexuality and polledness in goats". Nat. Genet. 29 (4): 453–458. December 2001. doi:10.1038/ng769. PMID 11726932. 
  2. "Attempt to Rescue Sex-Reversal by Transgenic Expression of the PISRT1 Gene in XX PIS–/– Goats.". Sex. Dev. 2 (3): 142–151. 2008. doi:10.1159/000143432. PMID 18769074. 
  3. "Characterization of Pisrt1/Foxl2 in Ellobius lutescens and exclusion as sex-determining genes". Mamm. Genome 16 (4): 281–289. April 2005. doi:10.1007/s00335-004-2019-7. PMID 15965789. 
  4. "Exclusion of PISRT1 as a candidate locus for canine Sry-negative XX sex reversal". Anim. Genet. 34 (6): 467–469. December 2003. doi:10.1046/j.0268-9146.2003.01053.x. PMID 14687082. 
  5. "Pisrt1, a gene implicated in XX sex reversal, is expressed in gonads of both sexes during mouse development". Mol. Genet. Metab. 86 (1–2): 286–292. 2005. doi:10.1016/j.ymgme.2005.06.013. PMID 16137905. 
  6. "New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing.". Anim. Genet. 51 (3): 439–448. June 2020. doi:10.1111/age.12918. PMID 32060960. 
  7. "Identification of a Goat Intersexuality-Associated Novel Variant Through Genome-Wide Resequencing and Hi-C.". Front. Genet. 11: 616743. 9 February 2021. doi:10.3389/fgene.2020.616743. PMID 33633772. 
  8. "FOXL2 Is a Female Sex-Determining Gene in the Goat.". Current Biology 24 (4): 404–408. February 2014. doi:10.1016/j.cub.2013.12.039. PMID 24485832.