Identification and characterization of YME1L1, a novel paraplegin-related gene

Citation
M. Coppola et al., Identification and characterization of YME1L1, a novel paraplegin-related gene, GENOMICS, 66(1), 2000, pp. 48-54
Citations number
29
Categorie Soggetti
Molecular Biology & Genetics
Journal title
GENOMICS
ISSN journal
08887543 → ACNP
Volume
66
Issue
1
Year of publication
2000
Pages
48 - 54
Database
ISI
SICI code
0888-7543(20000515)66:1<48:IACOYA>2.0.ZU;2-M
Abstract
A gene responsible for an autosomal recessive form of hereditary spastic pa raplegia (SPG7) was recently identified. This gene encodes paraplegin, a mi tochondrial protein highly homologous to the yeast mitochondrial AAA protea ses Afg3p, Rca1p, and Yme1p, which have both proteolytic and chaperone-like activities at the inner mitochondrial membrane. By screening the expressed sequence tag database, we identified and characterized a novel human gene, YME1L1 (YME1L1-like1, HGMW-approved symbol). This gene encodes a predicted protein of 716 amino acids highly similar to all mitochondrial AAA proteas es and in particular to yeast Yme1p. Expression and immunofluorescence stud ies revealed that YME1L1 and paraplegin share a similar expression pattern and the same subcellular localization in the mitochondrial compartment. YME 1L1 may represent a candidate gene for other forms of hereditary spastic pa raplegia and possibly for other neurodegenerative disorders. (C) 2000 Acade mic Press.