Progress toward positional cloning of ovine neuronal ceroid lipofuscinosis, a model of the human late-infantile variant CLN6

Citation
Mf. Broom et al., Progress toward positional cloning of ovine neuronal ceroid lipofuscinosis, a model of the human late-infantile variant CLN6, MOL GEN MET, 66(4), 1999, pp. 373-375
Citations number
16
Categorie Soggetti
Molecular Biology & Genetics
Journal title
MOLECULAR GENETICS AND METABOLISM
ISSN journal
10967192 → ACNP
Volume
66
Issue
4
Year of publication
1999
Pages
373 - 375
Database
ISI
SICI code
1096-7192(199904)66:4<373:PTPCOO>2.0.ZU;2-U
Abstract
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases wi th severe neurodegenerative pathology. An ovine model (OCL) has well-define d parallels with the human disease at the biochemical and pathological leve ls. The gene for OCL is located in the chromosomal region OAR7q13-15. This region is syntenic with HAS15q21-23, suggesting that OCL and CLN6 represent mutations in orthologous genes. New microsatellite markers have been devel oped enabling further refinement of the OCL critical region. (C) 1999 Acade mic Press.