Conserved patterns of gene expression in mice and goats in the vicinity of the Polled Intersex Syndrome (PIS) locus

Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
Svetlana Nikic, Daniel Vaiman

Abstract

The PIS mutation is a genomic ~12-kb deletion affecting long-range gene transcription and causing XX sex reversal and hornlessness in goats by simultaneous long-range action on two genes, gPISRT1 and gFOXL2. 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. PCR primers were defined and made it possible to analyse tissue-specific gene expression in mice and goats for 10 and 8 genes, respectively. The profile of expression was analysed by principal component analysis (PCA). The results indicate that FAIM (Fas apoptotic inhibitory molecule) is expressed similarly to FOXL2 (the primary determinant of ovary development located 280 kb away from the PIS mutation). However, we could demonstrate in goats that the PIS mutation has no direct effect on FAIM expression. Therefore, FAIM could contribute to normal ovarian function by inhibiting the apoptotic effect of Fas in the ovary but it relies on other regulatory elements.

Citations

Apr 12, 2005·Genomics·Julie CocquetReiner A Veitia
Feb 26, 2014·Human Molecular Genetics·Fubiao ShiXiaohui Wu
Aug 30, 2008·Human Mutation·Diane BeysenElfride De Baere
Jan 25, 2005·Molecular and Cellular Endocrinology·Humphrey Hung-Chang Yao
Sep 13, 2005·Biochemical and Biophysical Research Communications·Kangseok LeeJeehyeon Bae
Apr 1, 2005·Organogenesis·Amy C Ditewig, Humphrey Hung-Chang Yao
Apr 5, 2019·Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution·Alejandro ValdiviesoFrancesc Piferrer

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