title: Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis.
abstract: In the positional cloning of a disease gene with an unknown protein defect a spectrum of molecular biological methods is applied after linkage has been established. It is reasonable to analyze in detail any relevant candidate gene mapping to the particular chromosomal region. We report here the refined chromosomal assignment of SCPx/SCP2, a gene coding for the protein that is believed to have an important role in lipid metabolism by transporting many kinds of lipid molecules between organelles. This gene represents an excellent candidate gene for infantile neuronal ceroid lipofuscinosis, earlier assigned to 1p32 by us, since lipid metabolism in the patient's brain appears to be significantly disturbed. Expression and structural analyses by Northern, Southern and Western blotting as well as SSCP and direct sequencing did not detect any differences between the cDNAs of patients and controls. Consequently, it is unlikely that a mutation in SCPx/SCP2 is the underlying cause of this severe neurodegenerative disease of childhood.
authors.affiliation: Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
authors.forename: J
authors.initials: J
authors.lastname: Vesa
authors.forename: E
authors.initials: E
authors.lastname: Hellsten
authors.forename: B L
authors.initials: BL
authors.lastname: Barnoski
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: J T
authors.initials: JT
authors.lastname: Billheimer
authors.forename: S
authors.initials: S
authors.lastname: Mead
authors.forename: J K
authors.initials: JK
authors.lastname: Cowell
authors.forename: J F
authors.initials: JF
authors.lastname: Strauss
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005796:Genes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010940:Plant Proteins; D011110:Polymorphism, Genetic
chemical_list: D002352:Carrier Proteins; D010940:Plant Proteins; C072087:sterol carrier proteins; D000101:Acetyl-CoA C-Acetyltransferase