GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000352
Main curator
Martin
PHENOTYPIC CHANGE
Trait #1
Trait Category
Trait State in Taxon A
Capra aegagrus hircus
Trait State in Taxon B
Capra aegagrus hircus
Trait #2
Trait Category
Trait State in Taxon A
-
Trait State in Taxon B
-
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
goat
Synonyms
Capra aegagrus hircus; goat; domestic goat; goats; Carpa hircus; South African angora goat
Rank
species
Lineage
Show more ... eostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Capra
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Capra aegagrus hircus
Taxon B
Latin Name
Common Name
goat
Synonyms
Capra aegagrus hircus; goat; domestic goat; goats; Carpa hircus; South African angora goat
Rank
species
Lineage
Show more ... eostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Capra
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Capra aegagrus hircus
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
Deletion Size
10-100 kb
Molecular Details of the Mutation
11.7 kbp deletion of mainly repetitive sequences ; Alters transcription of two flanking genes; but FOXL2 in particular is proposed as the main determinant of the phenotype
Experimental Evidence
Authors
Pailhoux E; Vigier B; Chaffaux S; Servel N; Taourit S; Furet JP; Fellous M; Grosclaude F; et al. ... show more
Abstract
Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome. Familial cases of SRY-negative XX sex reversal are rare in humans, often hampering the discovery of new sex-determining genes. The mouse model is also insufficient to correctly apprehend the sex-determination cascade, as the human pathway is much more sensitive to gene dosage. Other species might therefore be considered in this respect. In goats, the polled intersex syndrome (PIS) mutation associates polledness and intersexuality. The sex reversal affects exclusively the XX individuals in a recessive manner, whereas the absence of horns is dominant in both sexes. The syndrome is caused by an autosomal gene located at chromosome band 1q43 (ref. 9), shown to be homologous to human chromosome band 3q23 (ref. 10). Through a positional cloning approach, we demonstrate that the mutation underlying PIS is the deletion of a critical 11.7-kb DNA element containing mainly repetitive sequences. This deletion affects the transcription of at least two genes: PISRT1, encoding a 1.5-kb mRNA devoid of open reading frame (ORF), and FOXL2, recently shown to be responsible for blepharophimosis ptosis epicanthus inversus syndrome (BPES) in humans. These two genes are located 20 and 200 kb telomeric from the deletion, respectively.
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
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