A splice site variant in the bovine rnf11 gene compromises growth and regulation of the inflammatory response

PLoS Genetics

Volumn 8, Issue 3, 2012, Pages

  Sartelet, Arnaud ^a   Druet, Tom ^a   Michaux, Charles ^a   Fasquelle, Corinne ^a   Géron, Sarah ^a   Tamma, Nico ^a   Zhang, Zhiyan ^a   Coppieters, Wouter ^a   Georges, Michel ^a   Charlier, Carole ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BELGIAN BLUE CATTLE; CATTLE; CHROMOSOME 3; DEATH; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOSITY; INFLAMMATION; INTRON; NONHUMAN; PROSPECTIVE STUDY; RNA SPLICING; RNF 11 GENE; STUNTING; ANIMAL; GENETIC ASSOCIATION; GENETICS; GROWTH; HAPLOTYPE; HOMOZYGOTE; HUMAN; MUTATION; PHENOTYPE; PHYSIOLOGY; SEQUENCE HOMOLOGY;

ANIMALIA; BOS; BOVINAE;

CARRIER PROTEIN; ISOPROTEIN; RNF11 PROTEIN, HUMAN;

ANIMALS; CARRIER PROTEINS; CATTLE; GENETIC ASSOCIATION STUDIES; GROWTH; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRONS; MUTATION; PHENOTYPE; PROTEIN ISOFORMS; RNA SPLICING; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84859222356     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002581     Document Type: Article

References (25)

1. Karim L, Takeda H, Lin L, Druet T, Arias JA, et al. (2011) Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature. Nat Genet 43: 405-413.
2. 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.
3. 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.
4. Fasquelle C, Sartelet A, Li W, Dive M, Tamma N, et al. (2009) 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 Genet 5: e1000666 doi:10.1371/journal.pgen.1000666.
5. Sartelet A, Kingbell P, Franklin CK, Fasquelle C, Géron S, et al. (2011) Allelic heterogeneity of Crooked Tail Syndrome: result of balancing selection? Anim Genet In press.
6. Azmi P, Seth A, (2005) RNF11 is a multifunctional modulator of growth factor receptor signalling and transcriptional regulation. Eur J Cancer 41: 2549-2560.
7. Shembade N, Parvatiyar K, Harhaj NS, Harhaj EW, (2009) The ubiquitin-editing enzyme A20 requires RNF11 to downregulate NF-kappaB signalling. EMBO J 28: 513-522.
8. Chang YF, Imam JS, Wilkinson MF, (2007) The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 76: 51-74.
9. Shanks RD, Robinson JL, (1989) Embryonic mortality attributed to inherited deficiency of uridine monophosphate synthase. J Dairy Sci 72: 3035-3039.
10. Thomsen B, Horn P, Panitz F, Bendixen E, Petersen AH, et al. (2006) A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Res 16: 97-105.
11. Malher X, Beaudeau F, Philipot JM, (2006) Effects of sire and dam genotype for complex vertebral malformation (CVM) on risk of return-to-service in Holstein dairy cows and heifers. Theriogenology 65: 1215-1225.
12. 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. Proc. of the 29th biennal session of the International Committee for Animal Recording (ICAR). Ottawa, Canada, July 31-August 5, 1994. EAAP Publication N° 75: 231-237.
13. Lee EG, Boone DL, Chai S, Libby SL, Chien M, et al. (2000) Failure to regulate TNF-induced NF-kappaB and cell death responses in A20-deficient mice. Science 289: 2350-2354.
14. Nathan C, Ding A, (2010) Nonresolving inflammation. Cell 140: 871-882.
15. Shembade N, Harhaj NS, Parvatiyar K, Copeland NG, Jenkins NA, et al. (2008) The E3 ligase Itch negatively regulates inflammatory signaling pathways by controlling the function of the ubiquitin-editing enzyme A20. Nat Immunol 9: 254-262.
16. Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, et al. (2010) Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet 86: 447-453.
17. Gao Y, Ganss BW, Wang H, Kitching RE, Seth A, (2005) The RING finger protein RNF11 is expressed in bone cells during osteogenesis and is regulated by Ets1. Exp Cell Res 304: 127-135.
18. Shuster DE, Kehrli ME Jr, Ackermann MR, Gilbert RO, (1992) Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle. Proc Natl Acad Sci U S A 89: 9225-9229.
19. Nagahata H, (2004) Bovine leukocyte adhesion deficiency (BLAD): a review. J Vet Med Sci 66: 1475-1482.
20. 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.
21. Druet T, Georges M, (2010) A Hidden Markov Model Combining Linkage and Linkage Disequilibrium Information for Haplotype Reconstruction and Quantitative Trait Locus Fine Mapping. Genetics 184: 789-798.
22. Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, et al. (2002) Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 3: RESEARCH0034.
23. 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.
24. Lynch M, Walsh B, (1997) Genetics and analysis of quantitative traits Sunderland Massachusetts Sinauer Associates, Inc.
25. 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.