GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002032
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Bos taurus
Trait State in Taxon B
Bos taurus: hairy; lactation failure and thermoregulatory dysfunction
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
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; 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
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
PRL
Synonyms
GHA1; Prol
Sequence Similarities
Belongs to the somatotropin/prolactin family.
UniProtKB
Bos taurus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
g.35105313A>C - c.661A>C - p.C221G
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Cys Gly 221
Authors
Littlejohn MD; Henty KM; Tiplady K; Johnson T; Harland C; Lopdell T; Sherlock RG; Li W; et al. ... show more
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
No matches found.
Related Haplotypes
1
COMMENTS
https://omia.org/OMIA000441/9913/
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