title: Novel alternative splicing by exon skipping in KIT associated with whole-body roan in an intercrossed population of Landrace and Korean Native pigs.
abstract: The KIT locus has been suggested to be a strong candidate region linked with whole-body roan in the F(2) population produced by intercrosses between Landrace and Korean Native pigs. In this manuscript, we report the finding of a novel alternative splicing event in the porcine KIT gene that results in the skipping of exon 5 in the I(Rn) allele. KIT mRNAs that lack exon 5 were identified in the large intestine and skin, suggesting that the mechanism responsible for the skipping of exon 5 may be tissue specific. A U(26) repeat in intron 5 showed complete linkage (LOD = 11.8) with the roan phenotype and absolute association with the black phenotype of the Korean Native pig (KNP) population samples, inferring that the repeat pattern may alter the complementary base-pairing-mediated looping-out of introns 4 and 5, which may mediate the exon 5-skipping event. Although the sample size in our study was relatively small, we speculate that the R3 allele containing the U(26) repeat is a causative element for the roan phenotype via alternative control of the exon skipping in our roan pedigree.
authors.affiliation: Division of Applied Life Science, BK21 Program, Graduate School of Gyeongsang National University, Jinju, Korea. s_htim @gnu.ac.kr
authors.forename: H T
authors.initials: HT
authors.lastname: Lim
authors.forename: T
authors.initials: T
authors.lastname: Zhong
authors.forename: I C
authors.initials: IC
authors.lastname: Cho
authors.forename: B Y
authors.initials: BY
authors.lastname: Seo
authors.forename: J H
authors.initials: JH
authors.lastname: Kim
authors.forename: S S
authors.initials: SS
authors.lastname: Lee
authors.forename: M S
authors.initials: MS
authors.lastname: Ko
authors.forename: H B
authors.initials: HB
authors.lastname: Park
authors.forename: B W
authors.initials: BW
authors.lastname: Kim
authors.forename: J H
authors.initials: JH
authors.lastname: Lee
authors.forename: J T
authors.initials: JT
authors.lastname: Jeon
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D003433:Crosses, Genetic; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics*; D008040:Genetic Linkage; D005828:Genetics, Population; D006197:Hair / Q000502:physiology*; D008969:Molecular Sequence Data; D010375:Pedigree; D010858:Pigmentation / Q000235:genetics* / Q000502:physiology; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics*; D056910:Republic of Korea; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D034421:Sus scrofa / Q000235:genetics* / Q000502:physiology
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D019009:Proto-Oncogene Proteins c-kit