Human Genetics

, Volume 109, Issue 5, pp 542–550

Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution

  • Marianne Hammarsund
  • William Wilson
  • Martin Corcoran
  • Mats Merup
  • Stefan Einhorn
  • Dan Grandér
  • Olle Sangfelt
Original Investigation

DOI: 10.1007/s00439-001-0610-5

Cite this article as:
Hammarsund, M., Wilson, W., Corcoran, M. et al. Hum Genet (2001) 109: 542. doi:10.1007/s00439-001-0610-5

Abstract.

Rapid progress in the sequencing of the genome of man and other species allows for the comparative analysis of their genetic structure and content. We have used a combined biochemical and computer-based approach to characterize a 146 kb human genomic bacterial artificial chromosome clone from chromosome 5q13 and discovered a novel human elongation-factor gene, hEFG2. The complete human EFG2 cDNA sequence is 3033 bp and contains 21 exons with conserved exon-intron splice junctions encompassing 45 kb of the genomic sequence with its 5'-end residing within a CpG island, characteristic of a housekeeping gene. The complete size of the hEFG2 cDNA was confirmed by Northern blot and reverse transcription/polymerase chain reaction analysis, which showed a single transcript of 3.2 kb ubiquitously expressed in various human tissues. The hEFG2 protein shows significant homology to several bacterial EF-G proteins, including that of Thermus thermophilus, and to the yeast Saccharomyces cerevisiae mitochondrial elongation factor-G (MEF2). Multiple alignments reveal a novel gene family of mitochondrial EF-G proteins that can by divided into two subgroups, EF-G1 and EF-G2, in several eukaryotic species including S. pombe, Caenorhabditis elegans and Drosophilamelanogaster. Using the information contained in the public databases, we also identified and cloned the complete coding sequence of the human EFG1 gene on chromosome 3q25. The cloning and characterization of these human mitochondrial elongation factor genes should permit us to address their role in the regulation of normal mitochondrial function and in various disease states.

Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Marianne Hammarsund
    • 1
  • William Wilson
    • 2
  • Martin Corcoran
    • 3
  • Mats Merup
    • 4
  • Stefan Einhorn
    • 1
  • Dan Grandér
    • 1
  • Olle Sangfelt
    • 1
  1. 1.Department of Oncology/Pathology, Cancer Center Karolinska, R8:03, Karolinska Hospital and Institute, 171 76 Stockholm, Sweden
  2. 2.Center for Genomics and Bioinformatics, KISAC, Karolinska Institute, Stockholm, Sweden
  3. 3.Molecular Biology Laboratory, Royal Bournemouth Hospital, Bournemouth, BH7 7DW, UK
  4. 4.Department of Medicine, Division of Hematology, Karolinska Institute at Huddinge University Hospital, Huddinge, Sweden

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