A large duplication associated with dominant white color in pigs originated by homologous recombination between LINE elements flanking KIT

Mammalian Genome

Volumn 13, Issue 10, 2002, Pages 569-577

  Giuffra, Elisabetta ^a   Törnsten, Anna ^a   Marklund, Stefan ^a   Bongcam Rudloff, Erik ^a   Chardon, Patrick ^b   Kijas, James M H ^a   Anderson, Susan I ^c   Archibald, Alan L ^c   Andersson, Leif ^a  

^a SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

^b DIF   (France)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONTIG; TYROSINE KINASE RECEPTOR; STEM CELL FACTOR RECEPTOR;

ALLELE; ANIMAL TISSUE; ARTICLE; DNA FLANKING REGION; EXON; GENE DUPLICATION; GENE EXPRESSION; GENE LOCUS; GENE SEQUENCE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; SEQUENCE ANALYSIS; SKIN COLOR; SWINE; ANIMAL; BACTERIAL ARTIFICIAL CHROMOSOME; CONTIG MAPPING; DNA SEQUENCE; DOMINANT GENE; GENETIC RECOMBINATION; GENETICS; HAIR COLOR; LONG INTERSPERSED REPEAT; MOLECULAR GENETICS; PULSED FIELD GEL ELECTROPHORESIS;

ANIMALIA; SUS SCROFA;

ALLELES; ANIMALS; BASE SEQUENCE; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CONTIG MAPPING; ELECTROPHORESIS, GEL, PULSED-FIELD; GENE DUPLICATION; GENES, DOMINANT; HAIR COLOR; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MOLECULAR SEQUENCE DATA; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-KIT; RECOMBINATION, GENETIC; SEQUENCE ANALYSIS, DNA; SWINE;

EID: 0036801609     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00335-002-2184-5     Document Type: Article

References (29)

1. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215, 403-410
2. 57, and Ph Kit expression mutations define tissue-specific control elements located between -23 and -154 kb upstream of Kit. Blood 94, 2658-2666
3. Chowdhary BP, de la Sena C, Harbitz I, Eriksson L, Gustavsson I (1995) FISH on metaphase and interphase chromosomes demonstrates the physical order of the genes for GPI, CRC, and LIPE in pigs. Cytogenet Cell Genet 71, 175-178
4. Claesson-Welsh L, Eriksson A, Westermark B, Heldin CH (1989) cDNA cloning and expression of the human A-type platelet-derived growth factor (PDGF) receptor establishes structural similarity to the B-type PDGF receptor. Proc Natl Acad Sci USA 86, 4917-4921
5. Fitch DH, Bailey WJ, Tagle DA, Goodman M, Sieu L et al. (1991) Duplication of the gamma-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates. Proc Natl Acad Sci USA 88, 7396-7400
6. Frengen E, Thomsen P, Kristensen T, Kran S, Miller R et al. (1991) Porcine SINEs: Characterization and use in species-specific amplification. Genomics 10, 949-956
7. Giuffra E, Evans G, Törnsten A, Wales R, Day A et al. (1999) The Belt mutation in pigs is an allele at the Dominant White (I/KIT) locus. Mamm Genome 10, 1132-1136
8. Giuffra E, Kijas JMH, Amarger V, Carlborg Ö, Jeon J-T et al. (2000) The origin of the domestic pig: Independent domestication and subsequent introgression. Genetics 154, 1785-1791
9. Hough RB, Lengeling A, Bedian V, Lo C, Bucan M (1998) Rump white inversion in the mouse disrupts dipeptidyl aminopeptidase-like protein 6 and causes dysregulation of Kit expression. Proc Natl Acad Sci USA 95,13800-13805
10. International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409, 860-921
11. Jeon J-T, Amarger V, Robic A, Rogel-Gaillard C, Bongcam-Rudloff E, et al. (2001) Comparative analysis of a BAC contig of the porcine RN region and the human transcript map: Implications for the cloning of trait loci. Genomics 72, 297-303
12. Johansson Moller M, Chaudhary R, Hellmen E, Hoyheim B, Chowdhary B et al. (1996) Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor. Mamm Genome 7, 822-830
13. Jones GF (1998) Genetic aspects of domestication, common breeds and their origin. In: The Genetics of the Pig, A Ruvinsky, MF Rothschild, eds. (Oxon, UK: CAB International), pp 17-50
14. Kaplan DJ, Jurka J, Solus JF, Duncan CH (1991) Medium reiteration frequency repetitive sequences in the human genome. Nucleic Acids Res 17, 4731-4738
15. Kazazian Jr, HH (2000) L1 retrotransposons shape the mammalian genome. Science 289, 1152-1153
16. Kazazian Jr, HH, Moran JV (1998) The impact of L1 retrotransposons on the human genome. Nat Genet 19, 19-24
17. Kijas JMH, Moller M, Plastow G, Andersson L (2001) A frameshift mutation in MCIR and a high frequency of somatic reversions cause black spotting in pigs. Genetics 158, 779-785
18. Legault C (1998) Genetics of colour variation. In: The Genetics of the pig, MF Rothschild, A Ruvinsky, eds. (Oxon, UK: CAB International), pp 51-69
19. Marklund S, Kijas J, Rodriguez-Martinez H, Ronnstrand L, Funa K et al. (1998) Molecular basis for the dominant white phenotype in the domestic pig. Genome Res 8, 826-833
20. Marklund S, Moller M, Sandberg K, Andersson L (1999) Close association between sequence polymorphism in the KIT gene and the roan coat color in horses. Mamm Genome 10, 283-288
21. Mayor C, Brudno M, Schwartz JR, Poliakov A, Rubin EM et al. (2000) VISTA: visualizing global DNA sequence alignments of arbitrary length. Bioinformatics 16, 1046-1047
22. Mori M, Nishikawa T, Higuchi K, Nishimura M (2001) Deletion in the beige gene of the beige rat owing to recombination between LINE1s. Mamm Genome 10, 692-695
23. Pielberg G, Olsson C, Syvänen A-C, Andersson L (2002) Unexpectedly high allelic diversity at the KIT locus causing dominant white color in the domestic pig. Genetics 160, 305-311
24. Reinsch N, Thomsen H, Xu N, Brink M, Looft C et al. (1999) A QTL for the degree of spotting in cattle shows synteny with the KIT locus on chromosome 6. J Hered 90, 629-634
25. Rogel-Gaillard C, Billault A, Bourgeaux N, Vaiman M, Chardon P (1999) Characterisation and mapping of type C endogenous retroviral element in swine using a BAC library. Cytogenet Cell Genet 85, 273-278
26. Smit AFA, Toth G, Riggs AD, Jurka J (1995) Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences. J Mol Biol 246, 401-417
27. Spritz RA, Strunk KM, Lee ST, Lu-Kuo JM, Ward DC et al. (1994) A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12. Genomics 22, 431-436
28. Wright S (1918) Color inheritance in mammals. VIII. Swine. J Hered 9, 33-38
29. Yang Z, Boffelli D, Boonmark N, Schwartz K, Lawn R (1998) Apolipoprotein(a) gene enhancer resides within a LINE element. J Biol Chem 273, 891-897