A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome
Human Wolf-Hirschhorn syndrome (WHS) is a multigenic disorder resulting from a hemizygous deletion on chromosome 4. LETM1 is the best candidate gene for seizures, the strongest haploinsufficiency phenotype of WHS patients. Here, we identify the Drosophila gene CG4589 as the ortholog of LETM1 and nam...
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| Veröffentlicht in: | Human molecular genetics 2010-03, Vol.19 (6), p.987-1000 |
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| creator | McQuibban, Angus G. Joza, Nicholas Megighian, Aram Scorzeto, Michele Zanini, Damiano Reipert, Siegfried Richter, Constance Schweyen, Rudolf J. Nowikovsky, Karin |
| description | Human Wolf-Hirschhorn syndrome (WHS) is a multigenic disorder resulting from a hemizygous deletion on chromosome 4. LETM1 is the best candidate gene for seizures, the strongest haploinsufficiency phenotype of WHS patients. Here, we identify the Drosophila gene CG4589 as the ortholog of LETM1 and name the gene DmLETM1. Using RNA interference approaches in both Drosophila melanogaster cultured cells and the adult fly, we have assayed the effects of down-regulating the LETM1 gene on mitochondrial function. We also show that DmLETM1 complements growth and mitochondrial K+/H+ exchange (KHE) activity in yeast deficient for LETM1. Genetic studies allowing the conditional inactivation of LETM1 function in specific tissues demonstrate that the depletion of DmLETM1 results in roughening of the adult eye, mitochondrial swelling and developmental lethality in third-instar larvae, possibly the result of deregulated mitophagy. Neuronal specific down-regulation of DmLETM1 results in impairment of locomotor behavior in the fly and reduced synaptic neurotransmitter release. Taken together our results demonstrate the function of DmLETM1 as a mitochondrial osmoregulator through its KHE activity and uncover a pathophysiological WHS phenotype in the model organism D. melanogaster. |
| doi_str_mv | 10.1093/hmg/ddp563 |
| format | Article |
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LETM1 is the best candidate gene for seizures, the strongest haploinsufficiency phenotype of WHS patients. Here, we identify the Drosophila gene CG4589 as the ortholog of LETM1 and name the gene DmLETM1. Using RNA interference approaches in both Drosophila melanogaster cultured cells and the adult fly, we have assayed the effects of down-regulating the LETM1 gene on mitochondrial function. We also show that DmLETM1 complements growth and mitochondrial K+/H+ exchange (KHE) activity in yeast deficient for LETM1. Genetic studies allowing the conditional inactivation of LETM1 function in specific tissues demonstrate that the depletion of DmLETM1 results in roughening of the adult eye, mitochondrial swelling and developmental lethality in third-instar larvae, possibly the result of deregulated mitophagy. Neuronal specific down-regulation of DmLETM1 results in impairment of locomotor behavior in the fly and reduced synaptic neurotransmitter release. Taken together our results demonstrate the function of DmLETM1 as a mitochondrial osmoregulator through its KHE activity and uncover a pathophysiological WHS phenotype in the model organism D. melanogaster.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddp563</identifier><identifier>PMID: 20026556</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Amino Acid Sequence ; Animals ; Antiporters - chemistry ; Antiporters - genetics ; Antiporters - metabolism ; Biological and medical sciences ; Calcium-Binding Proteins - chemistry ; Calcium-Binding Proteins - genetics ; Calcium-Binding Proteins - metabolism ; Down-Regulation ; Drosophila melanogaster ; Drosophila melanogaster - genetics ; Drosophila melanogaster - growth & development ; Drosophila melanogaster - ultrastructure ; Drosophila Proteins - chemistry ; Drosophila Proteins - genetics ; Drosophila Proteins - metabolism ; Eye - pathology ; Eye - ultrastructure ; Fundamental and applied biological sciences. Psychology ; Gene Knockdown Techniques ; Genetic Complementation Test ; Genetics of eukaryotes. Biological and molecular evolution ; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy ; Humans ; Medical sciences ; Mitochondria - metabolism ; Mitochondria - ultrastructure ; Mitochondrial Proteins - chemistry ; Mitochondrial Proteins - genetics ; Mitochondrial Proteins - metabolism ; Molecular and cellular biology ; Molecular Sequence Data ; Motor Activity - physiology ; Mutation - genetics ; Nervous system (semeiology, syndromes) ; Nervous System - pathology ; Nervous System - physiopathology ; Nervous System - ultrastructure ; Neurology ; Neurotransmitter Agents - secretion ; Organ Specificity ; RNA Interference ; Saccharomyces cerevisiae - metabolism ; Seizures - complications ; Seizures - genetics ; Sequence Homology, Amino Acid ; Synapses - metabolism ; Synapses - ultrastructure ; Wolf-Hirschhorn Syndrome - complications ; Wolf-Hirschhorn Syndrome - genetics</subject><ispartof>Human molecular genetics, 2010-03, Vol.19 (6), p.987-1000</ispartof><rights>The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org 2010</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c518t-75d9555869221f73d080661af7598cb3760dc1f780e3dc38fe2255357e9fecb93</citedby><cites>FETCH-LOGICAL-c518t-75d9555869221f73d080661af7598cb3760dc1f780e3dc38fe2255357e9fecb93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,1579,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22472876$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20026556$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>McQuibban, Angus G.</creatorcontrib><creatorcontrib>Joza, Nicholas</creatorcontrib><creatorcontrib>Megighian, Aram</creatorcontrib><creatorcontrib>Scorzeto, Michele</creatorcontrib><creatorcontrib>Zanini, Damiano</creatorcontrib><creatorcontrib>Reipert, Siegfried</creatorcontrib><creatorcontrib>Richter, Constance</creatorcontrib><creatorcontrib>Schweyen, Rudolf J.</creatorcontrib><creatorcontrib>Nowikovsky, Karin</creatorcontrib><title>A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>Human Wolf-Hirschhorn syndrome (WHS) is a multigenic disorder resulting from a hemizygous deletion on chromosome 4. LETM1 is the best candidate gene for seizures, the strongest haploinsufficiency phenotype of WHS patients. Here, we identify the Drosophila gene CG4589 as the ortholog of LETM1 and name the gene DmLETM1. Using RNA interference approaches in both Drosophila melanogaster cultured cells and the adult fly, we have assayed the effects of down-regulating the LETM1 gene on mitochondrial function. We also show that DmLETM1 complements growth and mitochondrial K+/H+ exchange (KHE) activity in yeast deficient for LETM1. Genetic studies allowing the conditional inactivation of LETM1 function in specific tissues demonstrate that the depletion of DmLETM1 results in roughening of the adult eye, mitochondrial swelling and developmental lethality in third-instar larvae, possibly the result of deregulated mitophagy. Neuronal specific down-regulation of DmLETM1 results in impairment of locomotor behavior in the fly and reduced synaptic neurotransmitter release. Taken together our results demonstrate the function of DmLETM1 as a mitochondrial osmoregulator through its KHE activity and uncover a pathophysiological WHS phenotype in the model organism D. melanogaster.</description><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Antiporters - chemistry</subject><subject>Antiporters - genetics</subject><subject>Antiporters - metabolism</subject><subject>Biological and medical sciences</subject><subject>Calcium-Binding Proteins - chemistry</subject><subject>Calcium-Binding Proteins - genetics</subject><subject>Calcium-Binding Proteins - metabolism</subject><subject>Down-Regulation</subject><subject>Drosophila melanogaster</subject><subject>Drosophila melanogaster - genetics</subject><subject>Drosophila melanogaster - growth & development</subject><subject>Drosophila melanogaster - ultrastructure</subject><subject>Drosophila Proteins - chemistry</subject><subject>Drosophila Proteins - genetics</subject><subject>Drosophila Proteins - metabolism</subject><subject>Eye - pathology</subject><subject>Eye - ultrastructure</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Knockdown Techniques</subject><subject>Genetic Complementation Test</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Mitochondria - metabolism</subject><subject>Mitochondria - ultrastructure</subject><subject>Mitochondrial Proteins - chemistry</subject><subject>Mitochondrial Proteins - genetics</subject><subject>Mitochondrial Proteins - metabolism</subject><subject>Molecular and cellular biology</subject><subject>Molecular Sequence Data</subject><subject>Motor Activity - physiology</subject><subject>Mutation - genetics</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous System - pathology</subject><subject>Nervous System - physiopathology</subject><subject>Nervous System - ultrastructure</subject><subject>Neurology</subject><subject>Neurotransmitter Agents - secretion</subject><subject>Organ Specificity</subject><subject>RNA Interference</subject><subject>Saccharomyces cerevisiae - metabolism</subject><subject>Seizures - complications</subject><subject>Seizures - genetics</subject><subject>Sequence Homology, Amino Acid</subject><subject>Synapses - metabolism</subject><subject>Synapses - ultrastructure</subject><subject>Wolf-Hirschhorn Syndrome - complications</subject><subject>Wolf-Hirschhorn Syndrome - genetics</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0E9rFDEYx_Egil2rF1-A5CJC6dgnySSZHEvbdQsrClZavIRs_nSjM5MxmQHrq3fKrtWTnnLIh98DX4ReEnhLQLGTbXd74tzABXuEFqQWUFFo2GO0ACXqSigQB-hZKV8BiKiZfIoOKAAVnIsFuj7F5zmVNGxja3A3jaYfcQp4fXH1nhxjg63pXXRm9PjW9x6HlHHx8eeUfcGxx9epDdUq5mK325R7XO56l1Pnn6MnwbTFv9i_h-jz8uLqbFWtP7y7PDtdV5aTZqwkd4pz3ghFKQmSOWhACGKC5KqxGyYFODt_NOCZs6wJnlLOGZdeBW83ih2iN7vdIafvky-j7mKxvm1N79NUtKwFESAb8X_JGJ2X6_vNo520c5mSfdBDjp3Jd5qAvi-u5-J6V3zGr_az06bz7oH-TjyD13tgijVtyKa3sfxxtJa0kX-5NA3_PljtXCyj__EgTf6mhWSS69XNF_2JL-Hmo1pqYL8AD8OjaA</recordid><startdate>20100315</startdate><enddate>20100315</enddate><creator>McQuibban, Angus G.</creator><creator>Joza, Nicholas</creator><creator>Megighian, Aram</creator><creator>Scorzeto, Michele</creator><creator>Zanini, Damiano</creator><creator>Reipert, Siegfried</creator><creator>Richter, Constance</creator><creator>Schweyen, Rudolf J.</creator><creator>Nowikovsky, Karin</creator><general>Oxford University Press</general><scope>BSCLL</scope><scope>IQODW</scope><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>7X8</scope><scope>7SS</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20100315</creationdate><title>A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome</title><author>McQuibban, Angus G. ; Joza, Nicholas ; Megighian, Aram ; Scorzeto, Michele ; Zanini, Damiano ; Reipert, Siegfried ; Richter, Constance ; Schweyen, Rudolf J. ; Nowikovsky, Karin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c518t-75d9555869221f73d080661af7598cb3760dc1f780e3dc38fe2255357e9fecb93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Antiporters - chemistry</topic><topic>Antiporters - genetics</topic><topic>Antiporters - metabolism</topic><topic>Biological and medical sciences</topic><topic>Calcium-Binding Proteins - chemistry</topic><topic>Calcium-Binding Proteins - genetics</topic><topic>Calcium-Binding Proteins - metabolism</topic><topic>Down-Regulation</topic><topic>Drosophila melanogaster</topic><topic>Drosophila melanogaster - genetics</topic><topic>Drosophila melanogaster - growth & development</topic><topic>Drosophila melanogaster - ultrastructure</topic><topic>Drosophila Proteins - chemistry</topic><topic>Drosophila Proteins - genetics</topic><topic>Drosophila Proteins - metabolism</topic><topic>Eye - pathology</topic><topic>Eye - ultrastructure</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Knockdown Techniques</topic><topic>Genetic Complementation Test</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Mitochondria - metabolism</topic><topic>Mitochondria - ultrastructure</topic><topic>Mitochondrial Proteins - chemistry</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Mitochondrial Proteins - metabolism</topic><topic>Molecular and cellular biology</topic><topic>Molecular Sequence Data</topic><topic>Motor Activity - physiology</topic><topic>Mutation - genetics</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous System - pathology</topic><topic>Nervous System - physiopathology</topic><topic>Nervous System - ultrastructure</topic><topic>Neurology</topic><topic>Neurotransmitter Agents - secretion</topic><topic>Organ Specificity</topic><topic>RNA Interference</topic><topic>Saccharomyces cerevisiae - metabolism</topic><topic>Seizures - complications</topic><topic>Seizures - genetics</topic><topic>Sequence Homology, Amino Acid</topic><topic>Synapses - metabolism</topic><topic>Synapses - ultrastructure</topic><topic>Wolf-Hirschhorn Syndrome - complications</topic><topic>Wolf-Hirschhorn Syndrome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>McQuibban, Angus G.</creatorcontrib><creatorcontrib>Joza, Nicholas</creatorcontrib><creatorcontrib>Megighian, Aram</creatorcontrib><creatorcontrib>Scorzeto, Michele</creatorcontrib><creatorcontrib>Zanini, Damiano</creatorcontrib><creatorcontrib>Reipert, Siegfried</creatorcontrib><creatorcontrib>Richter, Constance</creatorcontrib><creatorcontrib>Schweyen, Rudolf J.</creatorcontrib><creatorcontrib>Nowikovsky, Karin</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>McQuibban, Angus G.</au><au>Joza, Nicholas</au><au>Megighian, Aram</au><au>Scorzeto, Michele</au><au>Zanini, Damiano</au><au>Reipert, Siegfried</au><au>Richter, Constance</au><au>Schweyen, Rudolf J.</au><au>Nowikovsky, Karin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2010-03-15</date><risdate>2010</risdate><volume>19</volume><issue>6</issue><spage>987</spage><epage>1000</epage><pages>987-1000</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><abstract>Human Wolf-Hirschhorn syndrome (WHS) is a multigenic disorder resulting from a hemizygous deletion on chromosome 4. LETM1 is the best candidate gene for seizures, the strongest haploinsufficiency phenotype of WHS patients. Here, we identify the Drosophila gene CG4589 as the ortholog of LETM1 and name the gene DmLETM1. Using RNA interference approaches in both Drosophila melanogaster cultured cells and the adult fly, we have assayed the effects of down-regulating the LETM1 gene on mitochondrial function. We also show that DmLETM1 complements growth and mitochondrial K+/H+ exchange (KHE) activity in yeast deficient for LETM1. Genetic studies allowing the conditional inactivation of LETM1 function in specific tissues demonstrate that the depletion of DmLETM1 results in roughening of the adult eye, mitochondrial swelling and developmental lethality in third-instar larvae, possibly the result of deregulated mitophagy. Neuronal specific down-regulation of DmLETM1 results in impairment of locomotor behavior in the fly and reduced synaptic neurotransmitter release. Taken together our results demonstrate the function of DmLETM1 as a mitochondrial osmoregulator through its KHE activity and uncover a pathophysiological WHS phenotype in the model organism D. melanogaster.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>20026556</pmid><doi>10.1093/hmg/ddp563</doi><tpages>14</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Amino Acid Sequence Animals Antiporters - chemistry Antiporters - genetics Antiporters - metabolism Biological and medical sciences Calcium-Binding Proteins - chemistry Calcium-Binding Proteins - genetics Calcium-Binding Proteins - metabolism Down-Regulation Drosophila melanogaster Drosophila melanogaster - genetics Drosophila melanogaster - growth & development Drosophila melanogaster - ultrastructure Drosophila Proteins - chemistry Drosophila Proteins - genetics Drosophila Proteins - metabolism Eye - pathology Eye - ultrastructure Fundamental and applied biological sciences. Psychology Gene Knockdown Techniques Genetic Complementation Test Genetics of eukaryotes. Biological and molecular evolution Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Medical sciences Mitochondria - metabolism Mitochondria - ultrastructure Mitochondrial Proteins - chemistry Mitochondrial Proteins - genetics Mitochondrial Proteins - metabolism Molecular and cellular biology Molecular Sequence Data Motor Activity - physiology Mutation - genetics Nervous system (semeiology, syndromes) Nervous System - pathology Nervous System - physiopathology Nervous System - ultrastructure Neurology Neurotransmitter Agents - secretion Organ Specificity RNA Interference Saccharomyces cerevisiae - metabolism Seizures - complications Seizures - genetics Sequence Homology, Amino Acid Synapses - metabolism Synapses - ultrastructure Wolf-Hirschhorn Syndrome - complications Wolf-Hirschhorn Syndrome - genetics |
| title | A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome |
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