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
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.