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Published January 5, 2022 | Version v1
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Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation

Authors/Creators

  • 1. University of Canberra
  • 2. Garvan Institute of Medical Research
  • 3. Australian National University
  • 4. La Trobe University

Description

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.

Files

Pogona_vitticeps_nr5a1_hinge_region_cDNA_isoforms.txt

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Additional details

Related works

Is source of
10.5281/zenodo.5482174 (DOI)