{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T23:45:56Z","timestamp":1793663156358,"version":"4.5.1"},"reference-count":53,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,3,8]],"date-time":"2012-03-08T00:00:00Z","timestamp":1331164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Plant Journal"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Defects in complex\u2003I (NADH:ubiquinone oxidoreductase (EC 1.6.5.3)) are the most frequent cause of human respiratory disorders. The pathogenicity of a given human mitochondrial mutation can be difficult to demonstrate because the mitochondrial genome harbors large numbers of polymorphic base changes that have no pathogenic significance. In addition, mitochondrial mutations are usually found in the heteroplasmic state, which may hide the biochemical effect of the mutation. We propose that the unicellular green alga <jats:italic>Chlamydomonas<\/jats:italic> could be used to study such mutations because (i) respiratory complex\u2010deficient mutants are viable and mitochondrial mutations are found in the homoplasmic state, (ii) transformation of the mitochondrial genome is feasible, and (iii) <jats:italic>Chlamydomonas<\/jats:italic> complex\u2003I is similar to that of humans. To illustrate this proposal, we introduced a Leu157Pro substitution into the <jats:italic>Chlamydomonas<\/jats:italic> ND4 subunit of complex\u2003I in two recipient strains by biolistic transformation, demonstrating that site\u2010directed mutagenesis of the <jats:italic>Chlamydomonas<\/jats:italic> mitochondrial genome is possible. This substitution did not lead to any respiratory enzyme defects when present in the heteroplasmic state in a patient with chronic progressive external ophthalmoplegia. When present in the homoplasmic state in the alga, the mutation does not prevent assembly of whole complex\u2003I (950\u2003kDa) and the NADH dehydrogenase activity of the peripheral arm of the complex is mildly affected. However, the NADH:duroquinone oxidoreductase activity is strongly reduced, suggesting that the substitution could affect binding of ubiquinone to the membrane domain. The <jats:italic>in vitro<\/jats:italic> defects correlate with a decrease in dark respiration and growth rate <jats:italic>in vivo<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/j.1365-313x.2012.04912.x","type":"journal-article","created":{"date-parts":[[2012,1,23]],"date-time":"2012-01-23T11:35:01Z","timestamp":1327318501000},"page":"759-768","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Reconstruction of a human mitochondrial complex\u2003I mutation in the unicellular green alga <i>Chlamydomonas<\/i>"],"prefix":"10.1111","volume":"70","author":[{"given":"V\u00e9ronique","family":"Larosa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Coosemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Motte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Bonnefoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Remacle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,3,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.02.001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2007.01.009"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2005.04779.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00434084"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(76)90527-3"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/yea.320100406"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2011.06.015"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(02)00407-2"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1104\/pp.103.028076"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2004.06.001"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2008.01.001"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2009.08.017"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(98)00719-4"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:PRES.0000015384.24958.a9"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10540-007-9032-5"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1392"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001128"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1105\/tpc.11.1.115"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09066"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.108.2.499"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.plaphy.2004.09.010"},{"key":"e_1_2_6_23_1","first-page":"103","article-title":"Proteomic analysis of the subunit composition of complex\u2003I (NADH:ubiquinone oxidoreductase) from bovine heart mitochondria","volume":"357","author":"Fearnley I.M.","year":"2007","journal-title":"Methods Mol. 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