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Molecular basis for the dominant white phenotype in the domestic pig

Marklund, Stefan; Kijas, J; Rodriguez-Martinez, H; Rönnstrand, Lars LU ; Funa, Keiko; Moller, Maria; Lange, Dirk; Edfors-Lilja, I and Andersson, Leif (1998) In Genome Research 8(8). p.826-833
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... (More)
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.] (Less)
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published
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keywords
Alternative Splicing Animals Base Sequence Exons Genes, Restriction Fragment Length Proto-Oncogene Proteins c-kit/biosynthesis/*genetics Swine/blood/*genetics *Transcription, Dominant Genetic Variation Genotype Hair Color/*genetics Introns Leukocyte Count Molecular Sequence Data Multigene Family/genetics Phenotype Point Mutation Polymorphism, Genetic
in
Genome Research
volume
8
issue
8
pages
826 - 833
publisher
Cold Spring Harbor Laboratory Press
external identifiers
  • Scopus:0031668527
ISSN
1549-5469
language
English
LU publication?
no
id
77aa9a03-e4b6-46cb-ae71-15c79408f769 (old id 1783895)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/9724328
http://genome.cshlp.org/content/8/8/826.long
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC310759/
date added to LUP
2013-05-14 16:06:40
date last changed
2016-11-27 04:28:42
@misc{77aa9a03-e4b6-46cb-ae71-15c79408f769,
  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.]},
  author       = {Marklund, Stefan and Kijas, J and Rodriguez-Martinez, H and Rönnstrand, Lars and Funa, Keiko and Moller, Maria and Lange, Dirk and Edfors-Lilja, I and Andersson, Leif},
  issn         = {1549-5469},
  keyword      = {Alternative Splicing Animals Base Sequence Exons Genes,Restriction Fragment Length Proto-Oncogene Proteins c-kit/biosynthesis/*genetics Swine/blood/*genetics *Transcription,Dominant Genetic Variation Genotype Hair Color/*genetics Introns Leukocyte Count Molecular Sequence Data Multigene Family/genetics Phenotype Point Mutation Polymorphism,Genetic},
  language     = {eng},
  number       = {8},
  pages        = {826--833},
  publisher    = {ARRAY(0xb7be638)},
  series       = {Genome Research},
  title        = {Molecular basis for the dominant white phenotype in the domestic pig},
  volume       = {8},
  year         = {1998},
}