Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation
DOI10.5281/zenodo.5819770Zenodo5819770MaRDI QIDQ6723287
Dataset published at Zenodo repository.
Jennifer Marshall Graves, Clare Holleley, Melanie Edwards, Chexu Wang, Tariq Ezaz, Susan Wagner, Ira Deveson, Deni O'Meally, Kazumi Matsubara, Zhao Li, Hardip Patel, Arthur Georges, Xiuwen Zhang, Janine Deakin
Publication date: 5 January 2022
Pogona vitticeps has female heterogamety (ZZ/ZW) but the master sex determining gene is unknown, as is the case for all reptiles. We show that nr5a1, a gene that is essential in mammalian sex determination, has alleles on the Z and W chromosomes (Z-nr5a1 and W-nr5a1), which are both expressed and can recombine. Three transcript isoforms of Z-nr5a1 were detected in gonads of adult ZZ males, two of which encode a functional protein. However, ZW females produced sixteen isoforms, most of which contained premature stop codons. The array of transcripts produced by the W-borne allele (W-nr5a1) is likely to produce truncated polypeptides that could act as a competitive inhibitor to the full-length intact protein. We hypothesize that an altered configuration of the W chromosomes affects the conformation of the primary transcript generating inhibitory W-borne isoforms that suppress testis determination. Under this hypothesis, the GSD system of P. vitticeps is a W-borne dominant female-determiner that may be controlled epigenetically.
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