Identification and Characterization of YME1L1, a Novel Paraplegin-Related Gene
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...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 2000-05, Vol.66 (1), p.48-54 |
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| container_title | Genomics (San Diego, Calif.) |
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| creator | Coppola, Massimiliano Pizzigoni, Alessandro Banfi, Sandro Bassi, Maria Teresa Casari, Giorgio Incerti, Barbara |
| description | 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. |
| doi_str_mv | 10.1006/geno.2000.6136 |
| format | Article |
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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.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.2000.6136</identifier><identifier>PMID: 10843804</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Amino Acid Sequence ; Animals ; ATPases Associated with Diverse Cellular Activities ; Base Sequence ; Brain - metabolism ; Chromosome Mapping ; COS Cells ; Databases, Factual ; DNA, Complementary - chemistry ; DNA, Complementary - isolation & purification ; Embryo, Mammalian - metabolism ; Exons ; Expressed Sequence Tags ; Fetus - metabolism ; Fluorescent Antibody Technique ; Gene Expression Profiling ; Humans ; Infant, Newborn ; Introns ; Metalloendopeptidases - genetics ; Mice - embryology ; Mice - genetics ; Mitochondria - genetics ; Mitochondrial Proteins ; Molecular Sequence Data ; Muscle, Skeletal - metabolism ; Myocardium - metabolism ; Pancreas - metabolism ; Paraplegia - genetics ; paraplegin ; RNA, Messenger - metabolism ; Sequence Alignment ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid ; spastic paraplegia ; Tissue Distribution ; YME1L1 gene</subject><ispartof>Genomics (San Diego, Calif.), 2000-05, Vol.66 (1), p.48-54</ispartof><rights>2000 Academic Press</rights><rights>Copyright 2000 Academic Press.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c437t-b3a4187d9afa428c45038fa85e7e8a1b0c7049f481f04279e681a5c42e04805c3</citedby><cites>FETCH-LOGICAL-c437t-b3a4187d9afa428c45038fa85e7e8a1b0c7049f481f04279e681a5c42e04805c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1006/geno.2000.6136$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10843804$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Coppola, Massimiliano</creatorcontrib><creatorcontrib>Pizzigoni, Alessandro</creatorcontrib><creatorcontrib>Banfi, Sandro</creatorcontrib><creatorcontrib>Bassi, Maria Teresa</creatorcontrib><creatorcontrib>Casari, Giorgio</creatorcontrib><creatorcontrib>Incerti, Barbara</creatorcontrib><title>Identification and Characterization of YME1L1, a Novel Paraplegin-Related Gene</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>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.</description><subject>Adult</subject><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>ATPases Associated with Diverse Cellular Activities</subject><subject>Base Sequence</subject><subject>Brain - metabolism</subject><subject>Chromosome Mapping</subject><subject>COS Cells</subject><subject>Databases, Factual</subject><subject>DNA, Complementary - chemistry</subject><subject>DNA, Complementary - isolation & purification</subject><subject>Embryo, Mammalian - metabolism</subject><subject>Exons</subject><subject>Expressed Sequence Tags</subject><subject>Fetus - metabolism</subject><subject>Fluorescent Antibody Technique</subject><subject>Gene Expression Profiling</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Introns</subject><subject>Metalloendopeptidases - genetics</subject><subject>Mice - embryology</subject><subject>Mice - genetics</subject><subject>Mitochondria - genetics</subject><subject>Mitochondrial Proteins</subject><subject>Molecular Sequence Data</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Myocardium - metabolism</subject><subject>Pancreas - metabolism</subject><subject>Paraplegia - genetics</subject><subject>paraplegin</subject><subject>RNA, Messenger - metabolism</subject><subject>Sequence Alignment</subject><subject>Sequence Analysis, DNA</subject><subject>Sequence Homology, Amino Acid</subject><subject>spastic paraplegia</subject><subject>Tissue Distribution</subject><subject>YME1L1 gene</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10MFLwzAYh-EgipvTq0fpyZOdSZO2X48y5hzMKaIHTyFLv8xI18ykG-hfb0t38OIpEJ78IC8hl4yOGaXZ7RprN04opeOM8eyIDBmFIoZMZMdkSAEgzlPBB-QshM9WFRySUzJokeBAxZAs5yXWjTVWq8a6OlJ1GU0-lFe6QW9_-ktnovfHKVuwm0hFS7fHKnpuybbCta3jF6xUg2U0wxrPyYlRVcCLwzkib_fT18lDvHiazSd3i1gLnjfxiivBIC8LZZRIQIuUcjAKUswRFFtRnVNRGAHMUJHkBWbAVKpFglQATTUfket-d-vd1w5DIzc2aKwqVaPbBcnylBeJSFs47qH2LgSPRm693Sj_LRmVXUHZFZRdQdkVbB9cHZZ3qw2Wf3ifrAXQA2z_t7foZdAWa42l9agbWTr73_YvjiJ95Q</recordid><startdate>20000515</startdate><enddate>20000515</enddate><creator>Coppola, Massimiliano</creator><creator>Pizzigoni, Alessandro</creator><creator>Banfi, Sandro</creator><creator>Bassi, Maria Teresa</creator><creator>Casari, Giorgio</creator><creator>Incerti, Barbara</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20000515</creationdate><title>Identification and Characterization of YME1L1, a Novel Paraplegin-Related Gene</title><author>Coppola, Massimiliano ; Pizzigoni, Alessandro ; Banfi, Sandro ; Bassi, Maria Teresa ; Casari, Giorgio ; Incerti, Barbara</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c437t-b3a4187d9afa428c45038fa85e7e8a1b0c7049f481f04279e681a5c42e04805c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adult</topic><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>ATPases Associated with Diverse Cellular Activities</topic><topic>Base Sequence</topic><topic>Brain - metabolism</topic><topic>Chromosome Mapping</topic><topic>COS Cells</topic><topic>Databases, Factual</topic><topic>DNA, Complementary - chemistry</topic><topic>DNA, Complementary - isolation & purification</topic><topic>Embryo, Mammalian - metabolism</topic><topic>Exons</topic><topic>Expressed Sequence Tags</topic><topic>Fetus - metabolism</topic><topic>Fluorescent Antibody Technique</topic><topic>Gene Expression Profiling</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Introns</topic><topic>Metalloendopeptidases - genetics</topic><topic>Mice - embryology</topic><topic>Mice - genetics</topic><topic>Mitochondria - genetics</topic><topic>Mitochondrial Proteins</topic><topic>Molecular Sequence Data</topic><topic>Muscle, Skeletal - metabolism</topic><topic>Myocardium - metabolism</topic><topic>Pancreas - metabolism</topic><topic>Paraplegia - genetics</topic><topic>paraplegin</topic><topic>RNA, Messenger - metabolism</topic><topic>Sequence Alignment</topic><topic>Sequence Analysis, DNA</topic><topic>Sequence Homology, Amino Acid</topic><topic>spastic paraplegia</topic><topic>Tissue Distribution</topic><topic>YME1L1 gene</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Coppola, Massimiliano</creatorcontrib><creatorcontrib>Pizzigoni, Alessandro</creatorcontrib><creatorcontrib>Banfi, Sandro</creatorcontrib><creatorcontrib>Bassi, Maria Teresa</creatorcontrib><creatorcontrib>Casari, Giorgio</creatorcontrib><creatorcontrib>Incerti, Barbara</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Coppola, Massimiliano</au><au>Pizzigoni, Alessandro</au><au>Banfi, Sandro</au><au>Bassi, Maria Teresa</au><au>Casari, Giorgio</au><au>Incerti, Barbara</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification and Characterization of YME1L1, a Novel Paraplegin-Related Gene</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>2000-05-15</date><risdate>2000</risdate><volume>66</volume><issue>1</issue><spage>48</spage><epage>54</epage><pages>48-54</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><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.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>10843804</pmid><doi>10.1006/geno.2000.6136</doi><tpages>7</tpages></addata></record> |
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| subjects | Adult Amino Acid Sequence Animals ATPases Associated with Diverse Cellular Activities Base Sequence Brain - metabolism Chromosome Mapping COS Cells Databases, Factual DNA, Complementary - chemistry DNA, Complementary - isolation & purification Embryo, Mammalian - metabolism Exons Expressed Sequence Tags Fetus - metabolism Fluorescent Antibody Technique Gene Expression Profiling Humans Infant, Newborn Introns Metalloendopeptidases - genetics Mice - embryology Mice - genetics Mitochondria - genetics Mitochondrial Proteins Molecular Sequence Data Muscle, Skeletal - metabolism Myocardium - metabolism Pancreas - metabolism Paraplegia - genetics paraplegin RNA, Messenger - metabolism Sequence Alignment Sequence Analysis, DNA Sequence Homology, Amino Acid spastic paraplegia Tissue Distribution YME1L1 gene |
| title | Identification and Characterization of YME1L1, a Novel Paraplegin-Related Gene |
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