Sex-specific splicing of Z- and W-borne <i>nr5a1</i> alleles suggests sex determination is controlled by chromosome conformation-Reference-Cited by-同舟云学术

Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation

Published:2022-01-24 Issue:4 Volume:119 Page:
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proc. Natl. Acad. Sci. U.S.A.

Author:

Zhang Xiuwen¹,Wagner Susan¹,Holleley Clare E.¹²,Deakin Janine E.¹,Matsubara Kazumi¹,Deveson Ira W.³⁴,O’Meally Denis¹,Patel Hardip R.⁵^ORCID,Ezaz Tariq¹^ORCID,Li Zhao¹,Wang Chexu¹,Edwards Melanie¹,Graves Jennifer A. Marshall¹⁶^ORCID,Georges Arthur¹^ORCID

Affiliation:

1. Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia

2. Australian National Wildlife Collection, Commonwealth Scientific and Industrial Research Organisation, Crace, ACT 2911, Australia

3. Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia

4. School of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Sydney, NSW 2052, Australia

5. Genome Sciences Department, John Curtin School of Medical Research, Australian National University, Canberra, ACT 2601, Australia

6. School of Life Sciences, La Trobe University, Bundoora, VIC 3186, Australia

Abstract

Significance Reptiles have an extraordinary variety of mechanisms to determine sex. The best candidate sex-determining gene in our model reptile (the Australian central bearded dragon) is the key vertebrate sex gene nr5a1 (coding for the steroidogenic factor 1). There are no sex-specific sequence differences between nr5a1 alleles on the sex chromosomes, but the Z- and W-borne alleles are transcribed into remarkably different alternative transcripts. We propose that altered configuration of the repeat-laden W chromosome affects the conformation of the primary transcript to generate more diverse and potentially inhibitory W-borne isoforms that suppress testis determination. This is a mechanism for vertebrate sex determination, in which epigenetic control regulates the action of a gene present on both sex chromosomes.

Funder

Australian Research Council

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Link

https://pnas.org/doi/pdf/10.1073/pnas.2116475119

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