title: Identification and characterization of YME1L1, a novel paraplegin-related gene.
abstract: A gene responsible for an autosomal recessive form of hereditary spastic paraplegia (SPG7) was recently identified. This gene encodes paraplegin, a mitochondrial protein highly homologous to the yeast mitochondrial AAA proteases 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 proteases and in particular to yeast Yme1p. Expression and immunofluorescence studies revealed that YME1L1 and paraplegin share a similar expression pattern and the same subcellular localization in the mitochondrial compartment. YME1L1 may represent a candidate gene for other forms of hereditary spastic paraplegia and possibly for other neurodegenerative disorders.
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Coppola
authors.forename: A
authors.initials: A
authors.lastname: Pizzigoni
authors.forename: S
authors.initials: S
authors.lastname: Banfi
authors.forename: M T
authors.initials: MT
authors.lastname: Bassi
authors.forename: G
authors.initials: G
authors.lastname: Casari
authors.forename: B
authors.initials: B
authors.lastname: Incerti
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D019556:COS Cells; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000737:chemistry / Q000302:isolation & purification; D016208:Databases, Factual; D004622:Embryo, Mammalian / Q000378:metabolism; D005091:Exons; D020224:Expressed Sequence Tags; D005333:Fetus / Q000378:metabolism; D005455:Fluorescent Antibody Technique; D020869:Gene Expression Profiling; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D008666:Metalloendopeptidases / Q000235:genetics*; D051379:Mice / Q000196:embryology / Q000235:genetics; D008928:Mitochondria / Q000235:genetics; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism; D009206:Myocardium / Q000378:metabolism; D010179:Pancreas / Q000378:metabolism; D010264:Paraplegia / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: D018076:DNA, Complementary; D024101:Mitochondrial Proteins; D012333:RNA, Messenger; D008666:Metalloendopeptidases; C112889:SPG7 protein, human; C491813:Spg7 protein, mouse; C410807:YME1L1 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities