Human Genetics

, Volume 104, Issue 1, pp 99–105

Mapping and genomic characterization of the gene encoding diacylglycerol kinase γ (DAGK3): assessment of its role in dominant optic atrophy (OPA1)

  • Heidi Stöhr
  • Jörg Klein
  • Andrea Gehrig
  • Michael R. Koehler
  • Bernhard Jurklies
  • Ulrich Kellner
  • Beate Leo-Kottler
  • Michael Schmid
  • B. H. F. Weber
Original investigation

DOI: 10.1007/s004390050917

Cite this article as:
Stöhr, H., Klein, J., Gehrig, A. et al. Hum Genet (1999) 104: 99. doi:10.1007/s004390050917

Abstract

The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene encoding a novel member of the human DAGK family, termed DAGK3, was cloned and demonstrated to be abundantly expressed in the human retina. Based on these findings we reasoned that DAGK3 might be an excellent candidate gene for a human eye disease. In the present study, we report the genomic organization of the human DAGK3 gene, which spans over 30 kb of genomic DNA interrupted by 23 introns. In addition, we have mapped the gene locus by fluorescence in situ hybridization to 3q27–28, overlapping the chromosomal region known to contain the gene underlying dominant optic atrophy (OPA1), the most common form of hereditary atrophy of the optic nerve. Mutational analysis of the entire coding region of DAGK3 in 19 unrelated German OPA1 patients has not revealed any disease-causing mutations, therefore excluding DAGK3 as a major cause underlying OPA1.

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • Heidi Stöhr
    • 1
  • Jörg Klein
    • 1
  • Andrea Gehrig
    • 1
  • Michael R. Koehler
    • 1
  • Bernhard Jurklies
    • 2
  • Ulrich Kellner
    • 3
  • Beate Leo-Kottler
    • 4
  • Michael Schmid
    • 1
  • B. H. F. Weber
    • 1
  1. 1.Institut für Humangenetik, Biozentrum, Universität Würzburg, Am Hubland, D-97074 Würzburg, Germany e-mail: bweb@biozentrum.uni-wuerzburg.de, Tel.: +49-931-888-4062, Fax: +49-931-888-4069DE
  2. 2.Universitäts-Augenklinik Essen, GermanyDE
  3. 3.Universitäts-Klinikum Benjamin Franklin, Berlin, GermanyDE
  4. 4.Eberhard-Karls-Universität, Augenklinik, Tübingen, GermanyDE