Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pgen.1002798
Title: A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger Pufferfish, Takifugu rubripes (Fugu)
Authors: Kamiya T.
Kai W.
Tasumi S.
Oka A.
Matsunaga T.
Mizuno N.
Fujita M.
Suetake H.
Suzuki S.
Hosoya S.
Tohari S.
Brenner S. 
Miyadai T.
Venkatesh B. 
Suzuki Y.
Kikuchi K.
Keywords: anti Mullerian hormone receptor type II protein
phosphotransferase
receptor protein
unclassified drug
allele
amino acid substitution
animal cell
anti Mullerian hormone receptor type II gene
article
controlled study
female
gene expression profiling
gene locus
genetic linkage
genetic recombination
heterozygosity
homozygosity
male
missense mutation
mouse
mutator gene
nonhuman
Oryzias
phenotype
protein domain
puffer fish
sex determination
sex difference
single nucleotide polymorphism
species composition
structure analysis
Takifugu rubripes
tetraodon
X chromosome
Y chromosome
Amino Acid Substitution
Animals
Biological Evolution
Female
Genetic Association Studies
Genetic Linkage
Heterozygote
Homozygote
Male
Mutation, Missense
Receptors, Peptide
Receptors, Transforming Growth Factor beta
Sex Chromosomes
Sex Determination Processes
Takifugu
Oryziinae
Takifugu
Takifugu rubripes
Tetraodon
Tetraodontidae
Vertebrata
Issue Date: 2012
Citation: Kamiya T., Kai W., Tasumi S., Oka A., Matsunaga T., Mizuno N., Fujita M., Suetake H., Suzuki S., Hosoya S., Tohari S., Brenner S., Miyadai T., Venkatesh B., Suzuki Y., Kikuchi K. (2012). A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger Pufferfish, Takifugu rubripes (Fugu). PLoS Genetics 8 (7) : e1002798. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1002798
Abstract: Heterogametic sex chromosomes have evolved independently in various lineages of vertebrates. Such sex chromosome pairs often contain nonrecombining regions, with one of the chromosomes harboring a master sex-determining (SD) gene. It is hypothesized that these sex chromosomes evolved from a pair of autosomes that diverged after acquiring the SD gene. By linkage and association mapping of the SD locus in fugu (Takifugu rubripes), we show that a SNP (C/G) in the anti-Müllerian hormone receptor type II (Amhr2) gene is the only polymorphism associated with phenotypic sex. This SNP changes an amino acid (His/Asp384) in the kinase domain. While females are homozygous (His/His384), males are heterozygous. Sex in fugu is most likely determined by a combination of the two alleles of Amhr2. Consistent with this model, the medaka hotei mutant carrying a substitution in the kinase domain of Amhr2 causes a female phenotype. The association of the Amhr2 SNP with phenotypic sex is conserved in two other species of Takifugu but not in Tetraodon. The fugu SD locus shows no sign of recombination suppression between X and Y chromosomes. Thus, fugu sex chromosomes represent an unusual example of proto-sex chromosomes. Such undifferentiated X-Y chromosomes may be more common in vertebrates than previously thought. © 2012 Kamiya et al.
Source Title: PLoS Genetics
URI: https://scholarbank.nus.edu.sg/handle/10635/161637
ISSN: 15537390
DOI: 10.1371/journal.pgen.1002798
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