GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002282
Main curator
Martin
PHENOTYPIC CHANGE
Trait #1
Trait Category
Trait State in Taxon A
WT hair
Trait State in Taxon B
Slick hair (dominant) - Carora ; Romosinuano; Senepol ; Limonero
Trait #2
Trait Category
Trait State in Taxon A
Non thermotolerant
Trait State in Taxon B
Thermotolerant breed
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
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a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
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a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
PRLR
Synonyms
HPRL; MFAB; hPRLrI; RI-PRLR
String
Sequence Similarities
Belongs to the type I cytokine receptor family. Type 1 subfamily.
GO - Molecular Function
GO:0042803 : protein homodimerization activity
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GO - Biological Process
GO:0043066 : negative regulation of apoptotic process
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GO - Cellular Component
GO:0016021 : integral component of membrane
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Presumptive Null
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
g.39136559delC p.Leu462*
Experimental Evidence
-
Main Reference
Authors
Littlejohn MD; Henty KM; Tiplady K; Johnson T; Harland C; Lopdell T; Sherlock RG; Li W; et al.
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Abstract
Lactation, hair development and homeothermy are characteristic evolutionary features that define mammals from other vertebrate species. Here we describe the discovery of two autosomal dominant mutations with antagonistic, pleiotropic effects on all three of these biological processes, mediated through the prolactin signalling pathway. Most conspicuously, mutations in prolactin (PRL) and its receptor (PRLR) have an impact on thermoregulation and hair morphology phenotypes, giving prominence to this pathway outside of its classical roles in lactation.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA001372/9913/ @AllelicSeries @Pleiotropy
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