Abstract
Arthrogryposis multiplex congenita (AMC), defined as permanent joint contractures present at birth, is one of the most common congenital defects in piglets and other mammals. A genetic form of arthrogryposis was recently identified in Swiss Large White (LW) pigs. The disease is controlled by a single autosomal recessive allele designated as amc. At least 14 LW AI (artificial insemination) boars (about 25% of the Swiss population) are known to be carriers of the amc allele. A total of 219 pigs were used for linkage analysis, including seven founders (F1), three F0, 160 F2, and 49 F3 animals. All founder pigs were full or half sibs. Of the 219 pigs, 41 (18.7%) were found to be affected, while the remaining 178 (81.3%) were healthy. A comprehensive genome scan revealed that microsatellite SW1987 located on pig (Sus scrofa) Chromosome 5 (SSC5), was linked with AMC. Sixteen additional SSC5 microsatellites were selected for further genotyping to generate a multipoint map covering the AMC region. Significant pairwise linkage (LOD > 6.00) was found for AMC and eight marker loci. The order that best fit with the data was SW963–SW1987–SW152–AMC–(SW904, SW1094)–SWR1526–(SWR1974, SW310). AMC was mapped by linkage analysis to the position 92 cM, between SW152 and SW904/SW1094, which are located on SSC5 in bands q12–q23.
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References
RD Adams D Denuy–Brown CM Pearson (1962) Diseases of Muscle: A Study in Pathology EditionNumber2 Harper & Row New York
T Anderson (1997) ArticleTitleEarliest evidence for arthrogryposis multiplex congenita or Larsen syndrome? Am J Med Genet 71 IssueID2 127–129 Occurrence Handle1:STN:280:ByiA28%2FhvVQ%3D Occurrence Handle9217208
S Cirera CB Jorgensen M Sawera T Raudsepp BP Chowdhary et al. (2003) ArticleTitleComparative mapping in the pig: localization of 214 expressed sequence tags Mamm Genome 14 IssueID6 405–426 Occurrence Handle10.1007/s00335-002-2242-z Occurrence Handle1:CAS:528:DC%2BD3sXltFGnsrc%3D Occurrence Handle12879363
MW Crowe (1978) Tobacco: a cause of congenital arthrogryposis Effects of Poisonous Plants on Livestock Academic Press New York 419
DA Dyson AE Wrathall (1977) ArticleTitleCongenital deformities in pigs possibly associated with exposure to hemlock (Conium maculatum) Vet Rec 100 241–242 Occurrence Handle1:STN:280:CSiB3sjjslU%3D Occurrence Handle888298
MJ Edwards (1971) ArticleTitleThe experimental production of arthrogryposis multiplex congenita in guinea pigs by maternal hyperthermia during gestation J Pathol 104 221–229 Occurrence Handle1:STN:280:CS2D1cjhtVQ%3D Occurrence Handle5135658
R Ely HW Leipold (1979) ArticleTitleArthrogryposis in Yorkshire piglets Z Tierzüchtg Züchtungsbiol 96 241–252
CS Forsyth RC Speth L Wecker FD Galey AA Frank (1996) ArticleTitleComparison of nicotinic receptor binding and biotransformation of coniine in the rat and chick Toxicol Lett 89 IssueID3 175–183 Occurrence Handle10.1016/S0378-4274(96)03804-0 Occurrence Handle1:CAS:528:DyaK28Xnt1Ont7Y%3D Occurrence Handle9001585
A Goureau A Garrigues G Tosser–Klopp Y Lahbib–Mansais P Chardon et al. (2001) ArticleTitleConserved synteny and gene order difference between human chromosome 12 and pig chromosome 5 Cytogenet Cell Genet 94 IssueID1–2 49–54 Occurrence Handle1:CAS:528:DC%2BD3MXovFWjtr8%3D Occurrence Handle11701954
P Green K Falls S Crooks (1990) Documentation for CRIMAP, version 2.4 Washington University, School of Medicine St. Louis, MO
CS Haley SA Knott JM Elsen (1994) ArticleTitleMapping quantitative trait loci in crosses between outbred lines using least squares Genetics 136 1195–1207 Occurrence Handle1:CAS:528:DyaK2MXpsFCr Occurrence Handle8005424
RJ Hawken J Murtaugh GH Flickinger M Yerle A Robic et al. (1999) ArticleTitleA first-generation porcine whole-genome radiation hybrid map Mamm Genome 10 IssueID8 824–830 Occurrence Handle10.1007/s003359901097 Occurrence Handle1:CAS:528:DyaK1MXkvV2msLY%3D Occurrence Handle10430669
PW Laird A Zijderveld K Linders MA Rudnicki R Jaenisch (1991) ArticleTitleSimplified mammalian DNA isolation procedure Nucleic Acids Res 19 4293 Occurrence Handle1:CAS:528:DyaK3MXlslKltb0%3D Occurrence Handle1870982
HW Leipold FW Oehme JE Cook (1973) ArticleTitleCongenital arthrogryposis associated with ingestion of jimsonweed by pregnant sows J Am Vet Med Assoc 162 IssueID12 1059–1060 Occurrence Handle1:STN:280:CSyC1M7kvVU%3D Occurrence Handle4709616
OM Lomo (1985) ArticleTitleArthrogryposis and associated defects in pigs: indication of simple recessive inheritance Acta Vet Scand 26 IssueID3 419–422 Occurrence Handle1:STN:280:BimC2MritFY%3D Occurrence Handle4096326
TA Lopez MS Cid ML Bianchini (1999) ArticleTitleBiochemistry of hemlock (Conium maculatum L.) alkaloids and their acute and chronic toxicity in livestock. A review Toxicon 37 IssueID6 841–865 Occurrence Handle10.1016/S0041-0101(98)00204-9 Occurrence Handle1:CAS:528:DyaK1MXislGqt7c%3D Occurrence Handle10340826
I Matthews G Sims S Ledwidge D Stott D Beeson et al. (2002) ArticleTitleAntibodies to acetylcholine receptor in parous women with myasthenia: evidence for immunization by fetal antigen Lab Invest 82 IssueID10 1407–1417 Occurrence Handle1:CAS:528:DC%2BD38Xns1Cmu7Y%3D Occurrence Handle12379775
KB Panter TD Bunch RF Keeler DV Sisson (1988) ArticleTitleRadio ultrasound observations of the fetotoxic effects in sheep from ingestion of Conium maculatum (poison-hemlock) J Toxicol Clin Toxicol 26 IssueID3–4 175–187 Occurrence Handle1:STN:280:BieA3szhtVA%3D Occurrence Handle3047418
GA Rohrer LJ Alexander Z Hu TP Smith JW Keele et al. (1996) ArticleTitleA comprehensive map of the porcine genome Genome Res 6 IssueID5 371–391 Occurrence Handle1:CAS:528:DyaK28Xjtlymsb4%3D Occurrence Handle8743988
M Shohat R Lotan N Magal T Shohat N Fischel–Ghodsian et al. (1997) ArticleTitleA gene for arthrogryposis multiplex congenita neuropathic type is linked to D55394 on chromosome 5qter Am J Hum Genet 61 1139–1143 Occurrence Handle10.1086/301598 Occurrence Handle1:CAS:528:DyaK2sXns1yju7o%3D Occurrence Handle9345093
LT Staheli JG Hall KM Jaffe DO Paholke (1998) Arthrogryposis: a text atlas Cambridge University Press New York 173
A Vincent C Newland L Brueton D Beeson S Riemersma et al. (1995) ArticleTitleArthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen Lancet 346 IssueID8966 24–25 Occurrence Handle10.1016/S0140-6736(95)92652-6 Occurrence Handle1:STN:280:ByqA38nntlU%3D Occurrence Handle7603140
P Vögeli R Bolt R Fries G Stranzinger (1994) ArticleTitleCo-segregation of the malignant hyperthermia and the Arg615-Cys615 mutation in the skeletal muscle calcium release channel protein in five European Landrace and Pietrain pig breeds Anim Genet 25 IssueIDSuppl 1 59–66
JH Whittem (1957) ArticleTitleCongenital abnormalities in calves: arthrogryposis and hydrocephaly J Pathol 73 375–387
Acknowledgments
This study was supported by the ETH grant (No 0-43113-03) and other public and private organizations in Switzerland (e.g., SUISAG, Sempach). We thank Dr. M. Rothschild, coordinator of the US pig genome project, Iowa State University, for providing the fluorescent primers of the USDA microsatellite markers.
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Genini, S., Malek, M., Špilar, Š. et al. Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to Chromosome 5 by linkage analysis. Mamm Genome 15, 935–941 (2004). https://doi.org/10.1007/s00335-004-2403-3
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DOI: https://doi.org/10.1007/s00335-004-2403-3