PISRT1

PISRT1
Identifiers
Aliases	PISRT1, NCRNA00195, polled intersex syndrome regulated transcript 1 (non-protein coding RNA), PISRT1 lncRNA
External IDs	GeneCards: PISRT1; OMA:PISRT1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	139,233,522 bp
RNA expression pattern
	Top expressed in
	testicle; ; adrenal gland; ; gonad; ; sural nerve; ; ovary; ; monocyte; ; tibial arteries; ; blood; ; mucosa of esophagus; ; spleen;
	n/a
	More reference expression data
	n/a
Orthologs
	140464
	n/a
	ENSG00000281473
	n/a
	n; a
	n/a
	n/a
	n/a
	n/a
	n/a
	Wikidata
View/Edit Human

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,^[3] but this has been shown to not be the case.^[4] 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.^[5]^[6]^[7]

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,^[8]^[9] with the latter having been shown to be responsible for sex-determination in goats.^[10]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000281473 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Pailhoux E, Vigier B, Chaffaux S, et al. (December 2001). "A 11.7-kb deletion triggers intersexuality and polledness in goats". Nat. Genet. 29 (4): 453–458. doi:10.1038/ng769. PMID 11726932. S2CID 38284439.
^ Boulanger L, Kocer A, Daniel N, et al. (2008). "Attempt to Rescue Sex-Reversal by Transgenic Expression of the PISRT1 Gene in XX PIS–/– Goats". Sex. Dev. 2 (3): 142–151. doi:10.1159/000143432. PMID 18769074. S2CID 3389290.
^ Baumstark A, Hameister H, Hakhverdyan M, Bakloushinskaya I, Just W (April 2005). "Characterization of Pisrt1/Foxl2 in Ellobius lutescens and exclusion as sex-determining genes". Mamm. Genome. 16 (4): 281–289. doi:10.1007/s00335-004-2019-7. PMID 15965789. S2CID 20565510.
^ Kothapalli KS, Kirkness E, Natale LJ, Meyers-Wallen VN (December 2003). "Exclusion of PISRT1 as a candidate locus for canine Sry-negative XX sex reversal". Anim. Genet. 34 (6): 467–469. doi:10.1046/j.0268-9146.2003.01053.x. PMID 14687082.
^ Loffler KA, Combes AN, Wilhelm D, Beverdam A, Bowles J, Koopman P (2005). "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. doi:10.1016/j.ymgme.2005.06.013. PMID 16137905.
^ Simon R, Lischer H, Pienkowska-Schelling A, et al. (June 2020). "New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing". Anim. Genet. 51 (3): 439–448. doi:10.1111/age.12918. PMID 32060960.
^ E G, Zhou D, Zheng Z, et al. (9 February 2021). "Identification of a Goat Intersexuality-Associated Novel Variant Through Genome-Wide Resequencing and Hi-C". Front. Genet. 11: 616743. doi:10.3389/fgene.2020.616743. PMC 7901718. PMID 33633772.
^ Boulanger L, Pannetier M, Gall L, et al. (February 2014). "FOXL2 Is a Female Sex-Determining Gene in the Goat". Current Biology. 24 (4): 404–408. Bibcode:2014CBio...24..404B. doi:10.1016/j.cub.2013.12.039. PMID 24485832.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000281473 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11726932-3] Pailhoux E, Vigier B, Chaffaux S, et al. (December 2001). "A 11.7-kb deletion triggers intersexuality and polledness in goats". Nat. Genet. 29 (4): 453–458. doi:10.1038/ng769. PMID 11726932. S2CID 38284439.

[pmid18769074-4] Boulanger L, Kocer A, Daniel N, et al. (2008). "Attempt to Rescue Sex-Reversal by Transgenic Expression of the PISRT1 Gene in XX PIS–/– Goats". Sex. Dev. 2 (3): 142–151. doi:10.1159/000143432. PMID 18769074. S2CID 3389290.

[pmid15965789-5] Baumstark A, Hameister H, Hakhverdyan M, Bakloushinskaya I, Just W (April 2005). "Characterization of Pisrt1/Foxl2 in Ellobius lutescens and exclusion as sex-determining genes". Mamm. Genome. 16 (4): 281–289. doi:10.1007/s00335-004-2019-7. PMID 15965789. S2CID 20565510.

[pmid14687082-6] Kothapalli KS, Kirkness E, Natale LJ, Meyers-Wallen VN (December 2003). "Exclusion of PISRT1 as a candidate locus for canine Sry-negative XX sex reversal". Anim. Genet. 34 (6): 467–469. doi:10.1046/j.0268-9146.2003.01053.x. PMID 14687082.

[pmid16137905-7] Loffler KA, Combes AN, Wilhelm D, Beverdam A, Bowles J, Koopman P (2005). "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. doi:10.1016/j.ymgme.2005.06.013. PMID 16137905.

[doi10.1111-8] Simon R, Lischer H, Pienkowska-Schelling A, et al. (June 2020). "New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing". Anim. Genet. 51 (3): 439–448. doi:10.1111/age.12918. PMID 32060960.

[doi10.3389-9] E G, Zhou D, Zheng Z, et al. (9 February 2021). "Identification of a Goat Intersexuality-Associated Novel Variant Through Genome-Wide Resequencing and Hi-C". Front. Genet. 11: 616743. doi:10.3389/fgene.2020.616743. PMC 7901718. PMID 33633772.

[doi10.1016-10] Boulanger L, Pannetier M, Gall L, et al. (February 2014). "FOXL2 Is a Female Sex-Determining Gene in the Goat". Current Biology. 24 (4): 404–408. Bibcode:2014CBio...24..404B. doi:10.1016/j.cub.2013.12.039. PMID 24485832.

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See also

References