Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the crooked tail syndrome in Belgian blue cattle

PLoS Genetics

Volumn 5, Issue 9, 2009, Pages

  Fasquelle, Corinne ^a   Sartelet, Arnaud ^a   Li, Wanbo ^a,c   Dive, Marc ^a   Tamma, Nico ^a   Michaux, Charles ^a   Druet, Tom ^a   Huijbers, Ivo J ^b   Isacke, Clare M ^b   Coppieters, Wouter ^a   Georges, Michel ^a   Charlier, Carole ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^c AGRO ENVIRONMENTAL PROTECTION INSTITUTE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ENDO180 PROTEIN; MESSENGER RNA; MUTANT PROTEIN; UNCLASSIFIED DRUG; ENDO180; LECTIN RECEPTOR; MEMBRANE PROTEIN;

ARTICLE; BELGIAN BLUE CATTLE; CATTLE; CATTLE DISEASE; CROOKED TAIL SYNDROME; EXTRACELLULAR MATRIX; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE IDENTIFICATION; GENETIC SELECTION; HETEROZYGOSITY; MRC2 GENE; MUSCLE DEVELOPMENT; NONHUMAN; OPEN READING FRAME; OSSIFICATION; STOP CODON; ANIMAL; ANTIBODY SPECIFICITY; BASE PAIRING; BELGIUM; COMPUTER SIMULATION; EPIDEMIC; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOTE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; ORGAN SIZE; PENETRANCE; RNA STABILITY;

ANIMALIA; BOS;

ANIMALS; BASE PAIRING; BASE SEQUENCE; BELGIUM; CATTLE; CATTLE DISEASES; CODON, NONSENSE; COMPUTER SIMULATION; DISEASE OUTBREAKS; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; HETEROZYGOTE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; OPEN READING FRAMES; ORGAN SIZE; ORGAN SPECIFICITY; PENETRANCE; RECEPTORS, MITOGEN; RNA STABILITY; RNA, MESSENGER; SELECTION, GENETIC; SEQUENCE DELETION;

EID: 70349668999     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000666     Document Type: Article

References (26)

1. Grobet L, Martin LJ, Poncelet D, Pirottin D, Brouwers B, et al. (1997) A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. Nat Genet 17: 71-74. (Pubitemid 27377534)
2. Charlier C, Coppieters W, Rollin F, Desmecht D, Agerholm JS, et al. (2008) Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet 40: 449-454.
3. East L, Isacke CM (2002) The mannose receptor family. Biochim Biophys Acta 1572: 364-386.
4. Behrendt N (2004) The urokinase receptor (uPAR) and the uPAR-associated protein (uPARAP/Endo180): membrane proteins engaged in matrix turnover during tissue remodeling. Biol Chem 385: 103-136.
5. Chang YF, Imam JS, Wilkinson MF (2007) The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 76: 51-74.
6. Sturge J, Todd SK, Kogianni G, McCarthy A, Isacke CM (2007) Mannose receptor regulation of macrophage cell migration. J Leukoc Biol 82: 585-593. (Pubitemid 47367149)
7. Wagenaar-Miller RA, Engelholm LH, Gavard J, Yamada SS, Gutkind JS, et al. (2007) Complementary roles of intracellular and pericellular collagen degradation pathways in vivo. Mol Cell Biol 27: 6309-6322. (Pubitemid 47435739)
8. Jansen KM, Pavlath GK (2006) Mannose receptor regulates myoblast motility and muscle growth. J Cell Biol 174: 403-413.
9. East L, McCarthy A, Wienke D, Sturge J, Ashworth A, et al. (2003) A targeted deletion in the endocytic receptor gene Endo180 results in a defect in collagen uptake. EMBO Rep 4: 710-716. (Pubitemid 36974757)
10. Engelholm LH, List K, Netzel-Arnett S, Cukierman E, Mitola DJ, et al. (2003) uPARAP/Endo180 is essential for cellular uptake of collagen and promotes fibroblast collagen adhesion. J Cell Biol 160: 1009-1015. (Pubitemid 36443870)
11. Curino AC, Engelholm LH, Yamada SS, Holmbeck K, Lund LR, et al. (2005) Intracellular collagen degradation mediated by uPARAP/Endo180 is a major pathway of extracellular matrix turnover during malignancy. J Cell Biol 169: 977-985. (Pubitemid 41002873)
12. Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, et al. (1991) Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 253: 448-451. (Pubitemid 21917175)
13. Rudolph JA, Spier SJ, Byrns G, Rojas CV, Bernoco D, et al. (1992) Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nat Genet 2: 144-147.
14. Beever JE, Smit MA, Meyers SN, Hadfield TS, Bottema C, et al. (2006) A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep. Anim Genet 37: 66-71. (Pubitemid 43381857)
15. Smith LB, Dally MR, Sainz RD, Rodrigue KL, Oberbauer AM (2006) Enhanced skeletal growth of sheep heterozygous for an inactivated fibroblast growth factor receptor 3. J Anim Sci 84: 2942-2949.
16. Wright D, Boije H, Meadows JR, Bed'hom B, Gourichon D, et al. (2009) Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens. PLoS Genet 5: e1000512. doi:10.1371/journal.pgen.1000512.
17. Sutter NB, Bustamante CD, Chase K, Gray MM, Zhao K, et al. (2007) A single IGF1 allele is a major determinant of small size in dogs. Science 316: 112-115. (Pubitemid 46559530)
18. Karlsson EK, Baranowska I, Wade CM, Salmon Hillbertz NH, Zody MC, et al. (2007) Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet 39: 1321-1328. (Pubitemid 350034994)
19. Rosengren Pielberg G, Golovko A, Sundström E, Curik I, Lennartsson J, et al. (2008) A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nat Genet 40: 1004-1009.
20. Hellemans J, Mortier G, De Paepe A, Speleman F, Vandesompele J (2007) qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol 8: R19. (Pubitemid 351851037)
21. Isacke CM, van der Geer P, Hunter T, Trowbridge IS (1990) p180, a novel recycling transmembrane glycoprotein with restricted cell type expression. Mol Cell Biol 10: 2606-2618. (Pubitemid 20177986)
22. Sheikh H, Yarwood H, Ashworth A, Isacke CM (2000) Endo180, an endocytic recycling glycoprotein related to the macrophage mannose receptor is expressed on fibroblasts, endothelial cells and macrophages and functions as a lectin receptor. J Cell Sci 113: 1021-1032. (Pubitemid 30179481)
23. Wienke D, MacFadyen JR, Isacke CM (2003) Identification and characterization of the endocytic transmembrane glycoprotein Endo180 as a novel collagen receptor. Mol Biol Cell 14: 3592-3604. (Pubitemid 37151611)
24. Hanset R, Michaux C, Boonen F (1994) Linear classification in the Belgian Blue Cattle Breed: phenotypic and genetic parameters. Ottawa, Canada, International Committee for Animal Recording (ICAR), seminar, Beef performance recording and genetic evaluation. In: Milk and beef recording : State of the art, 1994. Proceedings of the 29th biennial session of the International Committee for Animal Recording (ICAR); Ottawa, Canada; July 31-August 5, 1994. EAAP Publication No. 75. pp 231-237.
25. Lynch M, Walsh B (1997) Genetics and analysis of quantitative traits. Sunderland Massachusetts: Sinauer Associates, Inc.
26. Boldman KG, Kriese LA, Van Vleck LD, Kachman SD (1995) A manual for Use of MTDFREML. A set of Programs to obtain Estimates of Variances and Covariances. United States Department of Agriculture: Agricultural Research Service.