GEPHE SUMMARY
Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002147
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Female (homozygous)
Trait State in Taxon B
Male (heterozygous)
Ancestral State
Unknown
Taxonomic Status
Taxon A #1
Latin Name
Common Name
torafugu
Synonyms
Fugu rubripes; Sphaeroides rubripes; Tetraodon rubripes; torafugu; tiger puffer; Takifugu rubripes (Temminck & Schlegel, 1850)
Rank
species
Lineage
Show more ...
leosteomorpha; Neoteleostei; Eurypterygia; Ctenosquamata; Acanthomorphata; Euacanthomorphacea; Percomorphaceae; Eupercaria; Tetraodontiformes; Tetraodontoidei; Tetradontoidea; Tetraodontidae; Takifugu
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon A #2
Latin Name
Common Name
finepatterned puffer
Synonyms
Fugu poecilonotus; Tetraodon poecilonotus; finepatterned puffer; komonfugu; Takifugu poecilonotus (Temminck & Schlegel, 1850)
Rank
species
Lineage
Show more ...
leosteomorpha; Neoteleostei; Eurypterygia; Ctenosquamata; Acanthomorphata; Euacanthomorphacea; Percomorphaceae; Eupercaria; Tetraodontiformes; Tetraodontoidei; Tetradontoidea; Tetraodontidae; Takifugu
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon A #3
Latin Name
Common Name
panther puffer
Synonyms
Fugu pardalis; panther puffer; higanfugu; Takifugu pardalis (Temminck & Schlegel, 1850)
Rank
species
Lineage
Show more ...
leosteomorpha; Neoteleostei; Eurypterygia; Ctenosquamata; Acanthomorphata; Euacanthomorphacea; Percomorphaceae; Eupercaria; Tetraodontiformes; Tetraodontoidei; Tetradontoidea; Tetraodontidae; Takifugu
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B #1
Latin Name
Common Name
torafugu
Synonyms
Fugu rubripes; Sphaeroides rubripes; Tetraodon rubripes; torafugu; tiger puffer; Takifugu rubripes (Temminck & Schlegel, 1850)
Rank
species
Lineage
Show more ...
leosteomorpha; Neoteleostei; Eurypterygia; Ctenosquamata; Acanthomorphata; Euacanthomorphacea; Percomorphaceae; Eupercaria; Tetraodontiformes; Tetraodontoidei; Tetradontoidea; Tetraodontidae; Takifugu
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
Taxon B #2
Latin Name
Common Name
finepatterned puffer
Synonyms
Fugu poecilonotus; Tetraodon poecilonotus; finepatterned puffer; komonfugu; Takifugu poecilonotus (Temminck & Schlegel, 1850)
Rank
species
Lineage
Show more ...
leosteomorpha; Neoteleostei; Eurypterygia; Ctenosquamata; Acanthomorphata; Euacanthomorphacea; Percomorphaceae; Eupercaria; Tetraodontiformes; Tetraodontoidei; Tetradontoidea; Tetraodontidae; Takifugu
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
Taxon B #3
Latin Name
Common Name
panther puffer
Synonyms
Fugu pardalis; panther puffer; higanfugu; Takifugu pardalis (Temminck & Schlegel, 1850)
Rank
species
Lineage
Show more ...
leosteomorpha; Neoteleostei; Eurypterygia; Ctenosquamata; Acanthomorphata; Euacanthomorphacea; Percomorphaceae; Eupercaria; Tetraodontiformes; Tetraodontoidei; Tetradontoidea; Tetraodontidae; Takifugu
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
AMHR2
Synonyms
AMHR; MRII; MISR2; MISRII
String
Sequence Similarities
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
GO - Molecular Function
GO:0005524 : ATP binding
... show more
GO - Biological Process
GO:0008584 : male gonad development
... show more
GO - Cellular Component
GO:0005886 : plasma membrane
... show more
UniProtKB
Homo sapiens
Homo sapiens
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
His/Asp384 heterozygous males have reduced Amrh2 activity due to decreased activity of the kinase signaling domain
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | CAT | GAT | 1152 |
Amino-acid | His | Asp | 384 |
Main Reference
Authors
Kamiya T; Kai W; Tasumi S; Oka A; Matsunaga T; Mizuno N; Fujita M; Suetake H; et al.
... show more
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.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@Sexual Trait @TransspecificPolymorphism @BalancingSelection ; https://omia.org/OMIA001728/31033/
YOUR FEEDBACK is welcome!