Progress toward positional cloning of ovine neuronal ceroid lipofuscinosis, a model of the human late-infantile variant CLN6.
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases with severe neurodegenerative pathology. An ovine model (OCL) has well-defined parallels with the human disease at the biochemical and pathological levels. 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 developed enabling further refinement of the OCL critical region.
Broom
M F
MF
Molecular Biology Unit, Department of Biochemistry, University of Otago, Dunedin, New Zealand. Murray.Broom@stonebow.otago.ac.nz
Zhou
C
C
Hill
D F
DF
D000818:Animals; D018244:Chromosomes, Artificial, Yeast; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D017931:DNA Primers; D004195:Disease Models, Animal; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008126:Lod Score; D018895:Microsatellite Repeats; D008957:Models, Genetic; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D012756:Sheep
D017931:DNA Primers