Ovine neuronal ceroid lipofuscinosis: A large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6

Journal of Medical Genetics

Volumn 35, Issue 9, 1998, Pages 717-721

  Broom, Murray F ^a   Zhou, Chaoming ^a   Broom, Judith E ^a   Barwell, Karen J ^a   Jolly, Robert D ^b   Hill, Diana F ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b MASSEY UNIVERSITY   (New Zealand)

Author keywords

Animal models; Batten disease; Neuronal ceroid lipofuscinosis; Ovine

Indexed keywords

DNA MARKER; MICROSATELLITE DNA;

ALLELE; ANIMAL MODEL; ARTICLE; CHROMOSOME 15Q; CHROMOSOME 7Q; CHROMOSOME PAINTING; FEMALE; GENE; GENE MUTATION; MALE; MOLECULAR CLONING; NEUROLOGIC DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; SHEEP;

ANIMALIA; OVIS; OVIS ARIES;

EID: 0031846129     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.9.717     Document Type: Article

References (12)

1. Hellsten E, Vesa J, Jalanko A, Peltonen L. From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid-lipofuscinosis gene. Neuropediatrics 1997;28:9-11.
2. Sharp JD, Wheeler RB, Lake BD, et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 1997;6:591-5.
3. Sleat DE, Donnelly RJ, Lackland H, et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997;277: 1802-5.
4. Consortium TIBD. Isolation of a novel gene underlying Batten disease, CLN3. Cell 1995;82:949-57.
5. Klokars T, Savukoski M, Isosomppi J, et al. Efficient construction of a physical map by fibre-fish of the CLN5 region: refined assignment and long range contig covering the critical region on 13q22. Genomics 1996;35:71-8.
6. Mitchison HM, Hofmann SL, Becerra CHR, et al. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 1998;7:291-7.
7. Harris A. Towards an ovine model of cystic fibrosis. Hum Mol Genet 1997;6:2191-3.
8. Edwards JH. Comparative genome mapping in mammals. Curr Opin Genet Dev 1994;4:861-7.
9. Hendrickson EA. The SCID mouse: relevance as an animal model system for studying human disease. Am J Pathol 1993;143:1511-22.
10. Jolly RD, Martinus RD, Palmer DN. Sheep and other animals with ceroid-lipofuscinoses: their relevance to Batten disease. Am J Med Genet 1992;42:609-14.
11. 2-terminal sequence. J Biol Chem 1989;264:5736-40.
12. Fearnley IM, Walker JE, Martinus RD, et al. The sequence of the major protein stored in the ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase. Biochem J 1990;268:751-8.