Ontology highlight
ABSTRACT:
SUBMITTER: Hansen JJ
PROVIDER: S-EPMC447607 | biostudies-literature | 2002 May
REPOSITORIES: biostudies-literature
Hansen Jens Jacob JJ Dürr Alexandra A Cournu-Rebeix Isabelle I Georgopoulos Costa C Ang Debbie D Nielsen Marit Nyholm MN Davoine Claire-Sophie CS Brice Alexis A Fontaine Bertrand B Gregersen Niels N Bross Peter P
American journal of human genetics 20020315 5
SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family. Here we present genetic data indicating that SPG13 is associated with a mutation, in the gene encoding the human mitochondrial chaperonin Hsp60, that results in the V72I substitution. A complementation assay showed that wild-type HSP60 (also known as "HSPD1"), but not HSP60 (V72I), together with the co-chaperonin HSP10 (also known as "HSPE1"), can support growth ...[more]