Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene

Neurogenetics

Volumn 11, Issue 2, 2010, Pages 175-183

  Thomsen, Bo ^a   Nissen, Peter H ^b   Agerholm, Jørgen S ^c   Bendixen, Christian ^a  

^a DANISH INSTITUTE OF AGRICULTURAL SCIENCES   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Animal model; Dysmyelination; Hereditary disease; Inbreeding; Spastin

Indexed keywords

ADENOSINE TRIPHOSPHATASE; DNA; GLUTAMINE; SPASTIN;

ALLELE; ARTICLE; BOVINE SPINAL DYSMYELINATION; CATTLE; CHROMOSOME 11; DEGENERATIVE DISEASE; DNA SEQUENCE; GENE EXPRESSION; GENE LOCUS; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; INBREEDING; MISSENSE MUTATION; MYELIN DEFICIENCY; NONHUMAN; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RNA EXTRACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADENOSINE TRIPHOSPHATASES; AMINO ACID SEQUENCE; ANIMALS; CATTLE; CHROMOSOME MAPPING; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYELIN SHEATH; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY;

ANIMALIA; BOS; BOS TAURUS; BOVINAE; HEXAPODA; MAMMALIA;

EID: 77954657997     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0214-0     Document Type: Article

References (31)

1. Andersson L, Georges M (2004) Domestic-animal genomics: deciphering the genetics of complex traits. Nat Rev Genet 5:202-212
2. Agerholm JS (2007) Inherited disorders in Danish cattle. APMIS 122(Suppl):1-76
3. Charlier C, Coppieters W, Rollin F, Desmecht D, Agerholm JS, Cambisano N, Carta E, Dardano S, Dive M, Fasquelle C, Frennet JC, Hanset R, Hubin X, Jorgensen C, Karim L, Kent M, Harvey K, Pearce BR, Simon P, Tama N, Nie H, Vandeputte S, Lien S, Longeri M, Fredholm M, Harvey RJ, Georges M (2008) Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet 40:449-454
4. Agerholm JS, Bendixen C, Andersen O, Arnbjerg J (2001) Complex vertebral malformation in holstein calves. J Vet Diagn Invest 13:283-289
5. Thomsen B, Horn P, Panitz F, Bendixen E, Petersen AH, Holm LE, Nielsen VH, Agerholm JS, Arnbjerg J, Bendixen C (2006) A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Res 16:97-105
6. Nissen PH, Shukri NM, Agerholm JS, Fredholm M, Bendixen C (2001) Genetic mapping of spinal dysmyelination in cross-bred American Brown Swiss cattle to bovine Chromosome 11. Mamm Genome 12:180-182
7. Stocker H, Berger PJ, Lutz H, Ossent P (1996) A new hereditary disease in Braunvieh cattle in Switzerland: spinal demyelinization (SDM) in calves that remain in lateral recumbency. Schweiz Arch Tierheilkd 138:295-300
8. Agerholm JS, Hafner A, Olsen S, Dahme E (1994) Spinal dysmyelination in cross-bred brown Swiss calves. Zentralbl Veterinarmed [A] 41:180-188
9. Hafner A, Dahme E, Obermaier G, Schmidt P, Dirksen G (1993) Spinal dysmyelination in new-born brown Swiss x Braunvieh calves. Zentralbl Veterinarmed [B] 40:413-422
10. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J (1999) Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 23:296-303
11. Frickey T, Lupas AN (2004) Phylogenetic analysis of AAA proteins. J Struct Biol 146:2-10
12. Svenson IK, Shley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA (2001) Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet 68:1077-1085
13. Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA (2002) Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol 59:281-286
14. Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bonsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Durr A, Hazan J (2000) Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 9:637-644
15. Webb MR (1992) A continuous spectrophotometric assay for inorganic phosphate and for measuring phosphate release kinetics in biological systems. Proc Natl Acad Sci USA 89:4884-4887
16. White SR, Evans KJ, Lary J, Cole JL, Lauring B (2007) Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing. J Cell Biol 176:995-1005
17. McDermott C, White K, Bushby K, Shaw P (2000) Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry 69:150-160
18. Rugarli EI, Langer T (2006) Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol Med 12:262-269
19. Agerholm JS, Andersen O (1995) Inheritance of spinal dysmyelination in calves. Zentralbl Veterinarmed [A] 42:9-12
20. Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, Bashir R, Hazan J, Shaw PJ, Bushby KM (2000) Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J Med Genet 37:759-765
21. Chinnery PF, Keers SM, Holden MJ, Ramesh V, Dalton A (2004) Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. Neurology 63:710-712
22. Svenson IK, Kloos MT, Gaskell PC, Nance MA, Garbern JY, Hisanaga S, Pericak-Vance MA, Shley-Koch AE, Marchuk DA (2004) Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics 5:157-164
23. Reid E, Connell J, Edwards TL, Duley S, Brown SE, Sanderson CM (2005) The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Hum Mol Genet 14:19-38
24. Evans K, Keller C, Pavur K, Glasgow K, Conn B, Lauring B (2006) Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Proc Natl Acad Sci USA 103:10666-10671
25. Deluca GC, Ebers GC, Esiri MM (2004) The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol 30:576-584
26. Tarrade A, Fassier C, Courageot S, Charvin D,Vitte J, Peris L, Thorel A, Mouisel E, Fonknechten N, Roblot N, Seilhean D, Dierich A, Hauw JJ, Melki J (2006) A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet 15:3544-3558
27. Errico A, Ballabio A, Rugarli EI (2002) Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 11:153-163
28. Evans KJ, Gomes ER, Reisenweber SM, Gundersen GG, Lauring BP (2005) Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. J Cell Biol 168:599-606
29. Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, Auricchio A, Piemonte F, Tozzi G, Gaeta L, Casari G, Ballabio A, Rugarli EI (2004) Axonal degeneration in paraplegindeficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113:231-242
30. Reid E, Kloos M, Shley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA (2002) A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 71:1189-1194
31. Bakowska JC, Jenkins R, Pendleton J, Blackstone C (2005) The Troyer syndrome (SPG20) protein spartin interacts with Eps15. Biochem Biophys Res Commun 334:1042-1048