Porcine arthrogryposis multiplex congenita (AMC): New diagnostic test and narrowed candidate region

Molecular and Cellular Probes

Volumn 26, Issue 6, 2012, Pages 248-252

  Haubitz, Monika ^a   Neuenschwander, Stefan ^a   Vögeli, Peter ^a  

^a ETH ZURICH   (Switzerland)

Author keywords

Arthrogryposis multiplex congenita (AMC); Genotype; Haplotype; Pig

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTHROGRYPOSIS; ARTICLE; CHROMOSOME 12; CONTROLLED STUDY; DIAGNOSTIC TEST; GENE MAPPING; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC RECOMBINATION; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOTE; HUMAN CHROMOSOME; INDEL MUTATION; MICROSATELLITE MARKER; NONHUMAN; PEDIGREE ANALYSIS; PIGLET; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGENY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SWINE; SWINE DISEASE;

ANIMALS; ARTHROGRYPOSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HAPLOTYPES; LINKAGE DISEQUILIBRIUM; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SUS SCROFA; SWINE; SWINE DISEASES;

PIERIS BRASSICAE; SUIDAE; SUS;

EID: 84868210558     PISSN: 08908508     EISSN: 10961194     Source Type: Journal    
DOI: 10.1016/j.mcp.2012.02.005     Document Type: Article

References (41)

1. Bamshad M., Van Heest A.E., Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am 2009, 91A:40-46.
2. Mulley R.C., Edwards M.J. Prevalence of congenital-abnormalities in pigs. Aust Vet J 1984, 61:116-120.
3. Genini S., Malek M., Spilar S., Nguyen T.T., Menetrey F., Gebert S., et al. Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to chromosome 5 by linkage analysis. Mamm Genome 2004, 15:935-941.
4. Philbey A.W., Ross A.D., Kirkland P.D., Love R.J. Skeletal and neurological malformations in pigs congenitally infected with Menangle virus. Aust Vet J 2007, 85:134-140.
5. Nawrot P.S., Howell W.E., Leipold H.W. Arthrogryposis - an inherited defect in newborn calves. Aust Vet J 1980, 56:359-364.
6. Duchesne A., Eggen A. Radiation hybrid mapping of genes and newly identified microsatellites in candidate regions for bovine arthrogryposis-palatoschisis and progressive ataxia based on comparative data from man, mouse and rat. J Anim Breed Genet 2005, 122:28-35.
7. Nes N., Lomo O.M., Bjerkas I. Hereditary lethal arthrogryposis (muscle contracture) in horses. Nord Vet Med 1982, 34:425-430.
8. MacHugh D.E., Murphy A.M., Park S.D.E., Scraggs E., Haley C.S., Lynn D.J., et al. Linkage mapping of the locus for inherited ovine arthrogryposis (IOA) to sheep chromosome 5. Mamm Genome 2007, 18:43-52.
9. Tejedor M.T., Ferrer L.M., Monteagudo L.V., Ramos J.J., Lacasta D., Climent S. Ovine heritable arthrogryposis multiplex congenita with probable lethal autosomal recessive mutation. J Comp Pathol 2010, 143:14-19.
10. Dantas A.F.M., Riet-Correa F., Medeiros R.M.T., de Galiza G.J.N., Pimentel L.D., dos Anjos B.L., et al. Congenital malformations in ruminants in the semiarid of the Brazilian northeast. Pesquisa Vet Brasil 2010, 30:807-815.
11. Dalton P., Clover L., Wallerstein R., Stewart H., Genzel-Boroviczeny O., Dean A., et al. Fetal arthrogryposis and maternal serum antibodies. Neuromuscul Disord 2006, 16:481-491.
12. Graham J.M., Edwards M.J., Edwards M.J. Teratogen update: gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans. Teratology 1998, 58:209-221.
13. Gordon N. Arthrogryposis multiplex congenita. Brain Dev-Jpn 1998, 20:507-511.
14. Dyson D.A. Congenital deformities in pigs possibly associated with exposure to hemlock (Conium maculatum). Vet Rec 1977, 100:241-242.
15. Markham K. Hemlock poisoning in piglets. Vet Rec 1985, 116:27.
16. Crowe M.W., Swerczek T.W. Congenital arthrogryposis in offspring of sows fed tobacco (Nicotiana tabacum). Am J Vet Res 1974, 35:1071-1073.
17. Narkis G., Ofir R., Manor E., Landau D., Elbedour K., Birk O.S. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet 2007, 81:589-595.
18. Lomo O.M. Arthrogryposis and associated defects in pigs: indication of simple recessive inheritance. Acta Vet Scand 1985, 26:419-422.
19. Ely R., Leipold H.W. Arthrogryposis in Yorkshire piglets. Z Tierz Zuchtungsbio 1979, 96:241-252.
20. Genini S. Comparative and molecular approaches to identifying polymorphisms in genes associated with arthrogryposis multiplex congenita (AMC) in swine 2006, ETH, Zürich. http://e-collection.library.ethz.ch/view/eth:28737%253fq%253dgenini.
21. Genini S., Nguyen T.T., Malek M., Talbot R., Gebert S., Rohrer G., et al. Radiation hybrid mapping of 18 positional and physiological candidate genes for arthrogryposis multiplex congenita on porcine chromosome 5. Anim Genet 2006, 37:239-244.
22. Vogeli P., Bolt R., Fries R., Stranzinger G. Co-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 1994, 25(Suppl. 1):59-66.
23. Laird P.W., Zijderveld A., Linders K., Rudnicki M.A., Jaenisch R., Berns A. Simplified mammalian DNA isolation procedure. Nucleic Acids Res 1991, 19:4293.
24. Ramos A.M., Crooijmans R.P., Affara N.A., Amaral A.J., Archibald A.L., Beever J.E., et al. Design of a high density SNP genotyping assay in the pig using SNPs identified and characterized by next generation sequencing technology. PLoS One 2009, 4:e6524.
25. Abecasis G.R., Cherny S.S., Cookson W.O., Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002, 30:97-101.
26. Thiele H., Nurnberg P. HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 2005, 21:1730-1732.
27. Farber C.R., Raney N.E., Rilington V.D., Venta P.J., Ernst C.W. Comparative mapping of genes flanking the human chromosome 12 evolutionary breakpoint in the pig. Cytogenet Genome Res 2003, 102:139-144.
28. Hamasima N., Mikawa A., Suzuki H., Suzuki K., Uenishi H., Awata T. A new 4016-marker radiation hybrid map for porcine-human genome analysis. Mamm Genome 2008, 19:51-60.
29. Robic A., Faraut T., Iannuccelli N., Lahbib-Mansais Y., Cantegrel V., Alexander L., et al. A new contribution to the integration of human and porcine genome maps: 623 new points of homology. Cytogenet Genome Res 2003, 102:100-108.
30. Lahbib-Mansais Y., Tosser-Klopp G., Leroux S., Cabau U., Karsenty E., Milan D., et al. Contribution to high-resolution mapping in pigs with 101 type I markers and progress in comparative map between humans and pigs. Mamm Genome 2003, 14:275-288.
31. Pujol A., Ferrer I., Kapfhammer J.P., Hindelang C., Kemp S., Troffer-Charlier N., et al. Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, golgi and endoplasmic reticulum damage. Hum Mol Genet 2005, 14:3565-3577.
32. Thorens B., Uldry M., Ibberson M., Horisberger J.D., Chatton J.Y., Riederer B.M. Identification of a mammalian H+-myo-inositol symporter expressed predominantly in the brain. Embo J 2001, 20:4467-4477.
33. Wu R., Chen Y., Zhao Y.H., Kalaslavadi T.B., Halmati E., Nehrke K., et al. Genome-wide search and identification of a novel gel-forming mucin MUC19/Muc19 in glandular tissues. Am J Resp Cell Mol 2004, 30:155-165.
34. Yamada K., Andrews C., Chan W.M., McKeown C.A., Magli A., de Berardinis T., et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 2003, 35:318-321.
35. Bouayed-Tiab L., Agosti C., Favez T., Favre I., Munier F.L., Schorderet D.F. Mutations analysis of KIF21A congenital fibrosis of the extraocular muscles (CFEOM) patients. Invest Ophthalmol Vis Sci 2004, 45. U942-U.
36. Kakinuma N., Kiyama R. A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane. Biochem Biophys Res Commun 2009, 386:639-644.
37. Sancho R.M., Law B.M., Harvey K. Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways. Hum Mol Genet 2009, 18:3955-3968.
38. Guo X., Day T.F., Jiang X., Garrett-Beal L., Topol L., Yang Y. Wnt/beta-catenin signaling is sufficient and necessary for synovial joint formation. Genes Dev 2004, 18:2404-2417.
39. Thomas S., Thomas M., Wincker P., Babarit C., Xu P., Speer M.C., et al. Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Hum Mol Genet 2008, 17:3411-3425.
40. Etchevers H.C., Amiel J., Lyonnet S. Molecular bases of human neurocristopathies. Adv Exp Med Biol 2006, 589:213-234.
41. Wu L., Belasco J.G. Let me count the ways: mechanisms of gene regulation by miRNAs and siRNAs. Mol Cell 2008, 29:1-7.