Open AccessSex-specific splicing of Z- and W-bornenr5a1alleles suggests sex determination is controlled by chromosome conformation
Author(s) -
Xiuwen Zhang,
Susan Wagner,
Clare E. Holleley,
Janine E. Deakin,
Kazumi Matsubara,
Ira W. Deveson,
Denis O’Meally,
Hardip R. Patel,
Tariq Ezaz,
Li Zhao,
Chexu Wang,
Melanie Edwards,
Jennifer A. Marshall Graves,
Arthur Georges
Publication year - 2022
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.2116475119
Subject(s) - biology , genetics , gene , allele , rna splicing , epigenetics , gene isoform , vertebrate , y chromosome , alternative splicing , chromosome , x chromosome , evolutionary biology , rna
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 genenr5a1 (coding for the steroidogenic factor 1). There are no sex-specific sequence differences betweennr5a1 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.