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Gene Review:

PISRT1 - polled intersex syndrome regulated...

Homo sapiens

Synonyms: NCRNA00195

Nikic, S. et al., Pailhoux, E. et al., Meyers-Wallen, V.N., Pannetier, M. et al., Baumstark, A. et al.

Meyers-Wallen,

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Disease relevance of PISRT1

This deletion affects the transcription of at least two genes: PISRT1, encoding a 1.5-kb mRNA devoid of open reading frame (ORF), and FOXL2, recently shown to be responsible for blepharophimosis ptosis epicanthus inversus syndrome (BPES) in humans [1].

High impact information on PISRT1

The canine genome was used to identify the canine homologue of goat Pisrt1 and so determine that canine and caprine Sry-negative XX sex reversal are genetically heterogeneous [2].
In this study, a comparative human/mouse analysis of the orthologous region was carriedout, permittingthe targeting of genes in the 1-Mb environment, and identification of previously unknown mouse orthologues for Pisrt1, Bpesc1 and Chr3syt, and a human orthologue for PISRT1 [3].

Biological context of PISRT1

This genomic region is composed of at least two genes, FOXL2 and PISRT1, sharing a common transcriptional regulatory region, PIS [4].
The genes Foxl2 and Pisrt1 from that interval were identified in E. lutescens DNA and mapped to Chromosome 8 [5].

References

A 11.7-kb deletion triggers intersexuality and polledness in goats. Pailhoux, E., Vigier, B., Chaffaux, S., Servel, N., Taourit, S., Furet, J.P., Fellous, M., Grosclaude, F., Cribiu, E.P., Cotinot, C., Vaiman, D. Nat. Genet. (2001) [Pubmed]
Genetics, genomics, and molecular biology of sex determination in small animals. Meyers-Wallen, V.N. Theriogenology (2006) [Pubmed]
Conserved patterns of gene expression in mice and goats in the vicinity of the Polled Intersex Syndrome (PIS) locus. Nikic, S., Vaiman, D. Chromosome Res. (2004) [Pubmed]
Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter. Pannetier, M., Renault, L., Jolivet, G., Cotinot, C., Pailhoux, E. Genomics (2005) [Pubmed]
Characterization of Pisrt1/Foxl2 in Ellobius lutescens and exclusion as sex-determining genes. Baumstark, A., Hameister, H., Hakhverdyan, M., Bakloushinskaya, I., Just, W. Mamm. Genome (2005) [Pubmed]

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