PMID- 8875890
OWN - NLM
STAT- MEDLINE
DCOM- 19970130
LR  - 20200304
IS  - 0938-8990 (Print)
IS  - 0938-8990 (Linking)
VI  - 7
IP  - 11
DP  - 1996 Nov
TI  - Pigs with the dominant white coat color phenotype carry a duplication of the KIT 
      gene encoding the mast/stem cell growth factor receptor.
PG  - 822-30
AB  - Comparative mapping data suggested that the dominant white coat color in pigs may 
      be due to a mutation in KIT which encodes the mast/stem cell growth factor 
      receptor. We report here that dominant white pigs lack melanocytes in the skin, 
      as would be anticipated for a KIT mutation. We found a complete association 
      between the dominant white mutation and a duplication of the KIT gene, or part of 
      it, in samples of unrelated pigs representing six different breeds. The 
      duplication was revealed by single strand conformation polymorphism (SSCP) 
      analysis and subsequent sequence analysis showing that white pigs transmitted two 
      nonallelic KIT sequences. Quantitative Southern blot and quantitative PCR 
      analysis, as well as fluorescence in situ hybridization (FISH) analysis, 
      confirmed the presence of a gene duplication in white pigs. FISH analyses showed 
      that KIT and the very closely linked gene encoding the platelet-derived growth 
      factor receptor (PDGFRA) are both located on the short arm of Chromosome (Chr) 8 
      at band 8p12. The result revealed an extremely low rate of recombination in the 
      centromeric region of this chromosome, since the closely linked (0.5 cM) serum 
      albumin (ALB) locus has previously been in situ mapped to the long arm (8q12). 
      Pig Chr 8 shares extensive conserved synteny with human Chr 4, but the gene order 
      is rearranged.
FAU - Johansson Moller, M
AU  - Johansson Moller M
AD  - Department of Animal Breeding and Genetics, Swedish University of Agricultural 
      Sciences, Uppsala, Sweden.
FAU - Chaudhary, R
AU  - Chaudhary R
FAU - Hellmen, E
AU  - Hellmen E
FAU - Hoyheim, B
AU  - Hoyheim B
FAU - Chowdhary, B
AU  - Chowdhary B
FAU - Andersson, L
AU  - Andersson L
LA  - eng
SI  - GENBANK/X93082
SI  - GENBANK/X93083
PT  - Journal Article
PL  - United States
TA  - Mamm Genome
JT  - Mammalian genome : official journal of the International Mammalian Genome Society
JID - 9100916
RN  - 0 (DNA Primers)
RN  - 0 (Genetic Markers)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-kit)
SB  - IM
MH  - Animals
MH  - Base Sequence
MH  - *Chromosome Mapping
MH  - *Chromosomes, Human, Pair 4
MH  - DNA Primers
MH  - Exons
MH  - Genes, Dominant
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Hair Color/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Molecular Sequence Data
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proto-Oncogene Proteins c-kit/*genetics
MH  - Recombination, Genetic
MH  - Sequence Homology, Nucleic Acid
MH  - Swine/*genetics
EDAT- 1996/11/01 00:00
MHDA- 1996/11/01 00:01
CRDT- 1996/11/01 00:00
PHST- 1996/11/01 00:00 [pubmed]
PHST- 1996/11/01 00:01 [medline]
PHST- 1996/11/01 00:00 [entrez]
AID - 10.1007/s003359900244 [doi]
PST - ppublish
SO  - Mamm Genome. 1996 Nov;7(11):822-30. doi: 10.1007/s003359900244.