GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000520
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Sus scrofa
Trait State in Taxon B
Sus scrofa
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
pig
Synonyms
pig; pigs; swine; wild boar; Sus scrofa Linnaeus, 1758; Sus scrofus
Rank
species
Lineage
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ebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
domestic pig
Synonyms
Sus domestica; Sus domesticus; Sus scrofa domestica; domestic pig
Rank
subspecies
Lineage
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hostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Suina; Suidae; Sus; Sus scrofa
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Kit
Synonyms
W; Bs; Fdc; Ssm; SCO1; SCO5; SOW3; CD117; c-KIT; Tr-kit; Gsfsco1; Gsfsco5; Gsfsow3; Sl
String
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
GO - Molecular Function
GO:0004888 : transmembrane signaling receptor activity
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GO - Biological Process
GO:0043066 : negative regulation of apoptotic process
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GO - Cellular Component
GO:0005886 : plasma membrane
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Mutation #1
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
-
Molecular Details of the Mutation
@Splicing mutation; G to A substitution in the first nucleotide of intron 17; leads to skipping of exon 17 - the splice mutation is expected to cause a receptor with impaired or absent tyrosine kinase activity - the splice mutation corresponds to a fully dominant allele that is also homozygous lethal
Experimental Evidence
| Taxon A | Taxon B | Position | |
|---|---|---|---|
| Codon | - | - | - |
| Amino-acid | - | - | - |
Authors
Marklund S; Kijas J; Rodriguez-Martinez H; Rönnstrand L; Funa K; Moller M; Lange D; Edfors-Lilja I; et al.
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Abstract
The change of phenotypic traits in domestic animals and crops as a response to selective breeding mimics the much slower evolutionary change in natural populations. Here, we describe that the dominant white phenotype in domestic pigs is caused by two mutations in the KIT gene encoding the mast/stem cell growth factor receptor (MGF), one gene duplication associated with a partially dominant phenotype and a splice mutation in one of the copies leading to the fully dominant allele. The splice mutation is a G to A substitution in the first nucleotide of intron 17 and leads to skipping of exon 17. The duplication is most likely a regulatory mutation affecting KIT expression, whereas the splice mutation is expected to cause a receptor with impaired or absent tyrosine kinase activity. Immunocytochemistry showed that this variant form is expressed in 17- to 19-day-old pig embryos. Hundreds of millions of white pigs around the world are assumed to be heterozygous or homozygous for the two mutations. [The EMBL accession numbers for porcine KIT1*0101, KIT1*0202, KIT2*0202, and KIT2*0101 are AJ223228-AJ223231, respectively.]
Additional References
Mutation #2
Presumptive Null
Molecular Type
Aberration Type
Insertion Size
100-1000 kb
Molecular Details of the Mutation
gene duplication associated with a partially dominant phenotype - the duplication is most likely a regulatory mutation affecting KIT expression - the size of the duplication appears to exceed 200 kb and include the complete coding sequence
Experimental Evidence
Authors
Marklund S; Kijas J; Rodriguez-Martinez H; Rönnstrand L; Funa K; Moller M; Lange D; Edfors-Lilja I; et al.
... show more
Abstract
The change of phenotypic traits in domestic animals and crops as a response to selective breeding mimics the much slower evolutionary change in natural populations. Here, we describe that the dominant white phenotype in domestic pigs is caused by two mutations in the KIT gene encoding the mast/stem cell growth factor receptor (MGF), one gene duplication associated with a partially dominant phenotype and a splice mutation in one of the copies leading to the fully dominant allele. The splice mutation is a G to A substitution in the first nucleotide of intron 17 and leads to skipping of exon 17. The duplication is most likely a regulatory mutation affecting KIT expression, whereas the splice mutation is expected to cause a receptor with impaired or absent tyrosine kinase activity. Immunocytochemistry showed that this variant form is expressed in 17- to 19-day-old pig embryos. Hundreds of millions of white pigs around the world are assumed to be heterozygous or homozygous for the two mutations. [The EMBL accession numbers for porcine KIT1*0101, KIT1*0202, KIT2*0202, and KIT2*0101 are AJ223228-AJ223231, respectively.]
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
EXTERNAL LINKS
COMMENTS
@Splicing @AllelicSeries https://omia.org/OMIA001745/9823/ Fully viable unlike other KIT LOF mutations and this is likely due to the duplicated version ; The splicing mutation alone without duplication seems to result in skipping of Exon 17 and is inferred to be homozygous lethal as this haplotype is absent at the homozygous state in the global pig population ; and was enginered in mice @HeterozygousAdvantage
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