TY - JOUR
T1 - Revisiting the mouse mitochondrial DNA sequence
AU - Bayona-Bafaluy, María Pilar
AU - Acín-Pérez, Rebeca
AU - Mullikin, James C.
AU - Park, Jeong Soon
AU - Moreno-Loshuertos, Raquel
AU - Hu, Peiqing
AU - Perez-Martos, Acisclo
AU - Fernández-Silva, Patricio
AU - Bai, Yidong
AU - Enríquez, José Antonio
N1 - Funding Information:
We would like to thank Dr Lluis Montoliu, Dr Allan Bradley and Dr Giuseppe Attardi for their help in establishing this collaborative effort. We also would like to thank Erika Fernández-Vizarra and Santiago Morales for their technical assistance. Our research was supported by Spanish Ministry of Education (PM-99-0082) and Instituto de Salud Carlos III (REDEMETH G03/05) grants to J.A.E., an Instituto de Salud Carlos III (REDCIEN C03/06-Grupo RC-N34-3) grant to A.P.-M., a Ramón y Cajal 2001 grant to P.F.S., a Research Resources Program for Medical Schools of the Howard Hughes Medical Institute grant to Y.B., and a Wellcome Trust grant to J.C.M. R.A.-P. and R.M.-L. are recipients of a Spanish Ministry of Education F.P.U. and, respectively, Spanish Ministry of Science and Technology F.P.I. fellowships.
PY - 2003/9/15
Y1 - 2003/9/15
N2 - The existence of reliable mtDNA reference sequences for each species is of great relevance in a variety of fields, from phylogenetic and population genetics studies to pathogenetic determination of mtDNA variants in humans or in animal models of mtDNA-linked diseases. We present compelling evidence for the existence of sequencing errors on the current mouse mtDNA reference sequence. This includes the deletion of a full codon in two genes, the substitution of one amino acid on five occasions and also the involvement of tRNA and rRNA genes. The conclusions are supported by: (i) the resequencing of the original cell line used by Bibb and Clayton the LA9 cell line, (ii) the sequencing of a second L-derivative clone (L929), and (iii) the comparison with 12 other mtDNA sequences from live mice, 10 of them maternally related with the mouse from which the L cells were generated. Two of the latest sequences are reported for the first time in this study (Balb/cJ and C57BL/6J). In addition, we found that both the LA9 and L929 mtDNAs also contain private clone polymorphic variants that, at least in the case of L929, promote functional impairment of the oxidative phosphorylation system. Consequently, the mtDNA of the strain used for the mouse genome project (C57BL/6J) is proposed as the new standard for the mouse mtDNA sequence.
AB - The existence of reliable mtDNA reference sequences for each species is of great relevance in a variety of fields, from phylogenetic and population genetics studies to pathogenetic determination of mtDNA variants in humans or in animal models of mtDNA-linked diseases. We present compelling evidence for the existence of sequencing errors on the current mouse mtDNA reference sequence. This includes the deletion of a full codon in two genes, the substitution of one amino acid on five occasions and also the involvement of tRNA and rRNA genes. The conclusions are supported by: (i) the resequencing of the original cell line used by Bibb and Clayton the LA9 cell line, (ii) the sequencing of a second L-derivative clone (L929), and (iii) the comparison with 12 other mtDNA sequences from live mice, 10 of them maternally related with the mouse from which the L cells were generated. Two of the latest sequences are reported for the first time in this study (Balb/cJ and C57BL/6J). In addition, we found that both the LA9 and L929 mtDNAs also contain private clone polymorphic variants that, at least in the case of L929, promote functional impairment of the oxidative phosphorylation system. Consequently, the mtDNA of the strain used for the mouse genome project (C57BL/6J) is proposed as the new standard for the mouse mtDNA sequence.
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U2 - 10.1093/nar/gkg739
DO - 10.1093/nar/gkg739
M3 - Article
C2 - 12954771
AN - SCOPUS:10744232965
SN - 0305-1048
VL - 31
SP - 5349
EP - 5355
JO - Nucleic acids research
JF - Nucleic acids research
IS - 18
ER -