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

Stöhr, Heidi; Klein, Jörg; Gehrig, Andrea; Köehler, Michael; Jurklies, Bernhard; Kellner, Ulrich; Leo-Kottler, Beate; Schmid, Michael; Weber, Bernhard H. F.

doi:10.1007/s004390050917

Cited by 9 publications

(4 citation statements)

References 29 publications

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“…Moreover, we found that five out of the 14 genes were certainly involved in the function of the camera eyes of humans and octopuses. For example, diacylglycerol kinase ␥, which is expressed in the rod outer segment of the retina, was found in humans and octopuses, but not in the invertebrates examined except octopus (Stohr et al 1999). For another example, dihydroxyacetonephosphate acyltransferase is the peroxisomal key enzyme of plasmalogen biosynthesis in eye-lens epithelial cells (Thai et al 1999).…”

Section: The Function Of Camera Eye-specific Genesmentioning

confidence: 99%

Comparative Analysis of Gene Expression for Convergent Evolution of Camera Eye Between Octopus and Human

Ogura¹,

Ikeo²,

Gojobori³

2004

Genome Res.

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Although the camera eye of the octopus is very similar to that of humans, phylogenetic and embryological analyses have suggested that their camera eyes have been acquired independently. It has been known as a typical example of convergent evolution. To study the molecular basis of convergent evolution of camera eyes, we conducted a comparative analysis of gene expression in octopus and human camera eyes. We sequenced 16,432 ESTs of the octopus eye, leading to 1052 nonredundant genes that have matches in the protein database. Comparing these 1052 genes with 13,303 already-known ESTs of the human eye, 729 (69.3%) genes were commonly expressed between the human and octopus eyes. On the contrary, when we compared octopus eye ESTs with human connective tissue ESTs, the expression similarity was quite low. To trace the evolutionary changes that are potentially responsible for camera eye formation, we also compared octopus-eye ESTs with the completed genome sequences of other organisms. We found that 1019 out of the 1052 genes had already existed at the common ancestor of bilateria, and 875 genes were conserved between humans and octopuses. It suggests that a larger number of conserved genes and their similar gene expression may be responsible for the convergent evolution of the camera eye

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Section: The Function Of Camera Eye-specific Genesmentioning

confidence: 99%

Comparative Analysis of Gene Expression for Convergent Evolution of Camera Eye Between Octopus and Human

Ogura¹,

Ikeo²,

Gojobori³

2004

Genome Res.

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“…For mutational analysis, amplification of each of 24 exons of DAGK3 gene was conducted using PCR primer sets as reported previously (14). Direct sequencing was conducted in a conventional manner.…”

Section: Methodsmentioning

confidence: 99%

A New Locus for a Dominant Form of Multinodular Goiter on 3q26.1-q26.3

Takahashi

Nozaki

Komatsu

et al. 2001

Biochemical and Biophysical Research Communications

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“…In this region, genes which have some impact on signal transduction are located, e.g. the diacylglycerol kinase 3 (DAGK3) gene, the PIKCA3 gene, and cytokins like the thrombopoietin gene [38, 39, 40, 41]. Furthermore, overrepresentations on 3q27–28 are common cytogenetic findings in severe dysplasias/carcinoma in situ, which may be a key event occurring early during carcinogenesis [42, 43].…”

Section: Discussionmentioning

confidence: 99%

Molecular Biologic Characteristics of Seven New Cell Lines of Squamous Cell Carcinomas of the Head and Neck and Comparison to Fresh Tumor Tissue

Welkoborsky

Jacob²,

Riazimand³

et al. 2003

Oncology

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Background: Squamous cell carcinoma (SCC) is the most frequent malignant tumor of the upper aerodigestive tract. Cell lines of these tumors facilitate the investigation of various tumor biological parameters. This study was conducted to compare molecular biologic characteristics between cell lines and fresh tumor tissue. Methods: In seven SCC-derived cell lines, cytokeratin 5/6 and cytokeratin 19 expression, DNA content, chromosome aberrations and tumorigenicity were assessed in nude rats. Unbalanced numerical and structural chromosomal aberrations were investigated by comparative genomic hybridization (CGH), and results were compared to those obtained in fresh tumor tissues of the same patients. Results: All cell lines expressed cytokeratins 5/6 and 19, indicating their epidermoid origin. Tumor growth after transplantation into nude rats occurred in five of seven cell lines. Routine histology and immunohistochemical examinations confirmed SCC. Aneuploidy was detected in all cell lines, with a 2c deviation index ranging from 1.9 through 9.5 and a 5c exceeding rate ranging from 2.6 through 36.7%. The most frequent chromosomal aberrations in cell lines were overrepresentations of chromosomal material on chromosomes 15q, 7p (5 cases each), 3q, 5p (4 cases each), and 11q and 17q (3 cases each) and losses of chromosomal material on chromosomes 3p, 18q (3 cases each), and 19p and 7q (2 cases each). Comparing these results to CGH analysis of fresh tumor tissue from the same patients, overrepresentations of chromosomal material on 10q, 20q and 21q, along with loss of chromosomal material on 4q was detected more frequently in primary tumors, whereas overrepresentations on 7p and loss of chromosomal material on 7q were more frequently detected in cell lines. Nevertheless, there was a high degree of similarity of chromosomal alterations in cell lines and corresponding fresh tumor tissue. Conclusion: The data suggest a high degree of genetic similarity between tumor cells of cell lines and the tumors from which they were derived. Therefore, these cell lines can serve as an accurate model to investigate cell biology of SCC in vitro.

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

Cited by 9 publications

References 29 publications

Comparative Analysis of Gene Expression for Convergent Evolution of Camera Eye Between Octopus and Human

Comparative Analysis of Gene Expression for Convergent Evolution of Camera Eye Between Octopus and Human

A New Locus for a Dominant Form of Multinodular Goiter on 3q26.1-q26.3

Molecular Biologic Characteristics of Seven New Cell Lines of Squamous Cell Carcinomas of the Head and Neck and Comparison to Fresh Tumor Tissue

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