Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy.

Abstract

The predicted consequence of this mutation is the loss of the guanosine triphosphatase (GTPase) activity of OPA1. Alu insertions have been reported in the literature as causing human genetic disease. However, this is the first report of a pathogenic OPA1 gene mutation resulting from an Alu insertion.

References

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	Year	Citations
OPA1 Controls Apoptotic Cristae Remodeling Independently from Mitochondrial Fusion Christian Frezza, Sara Cipolat, Olga Martins de Brito, Cell Signal TransductionMitochondrial FunctionMedicineCell DeathMitochondrial Fusion	2006	1.6K
Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons Jerzy Jurka Proceedings of the National Academy of Sciences	1997	562
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes Patrizia Amati‐Bonneau, Maria Lucia Valentino, Pascal Reynier, Brain Opa1 GeneGenome InstabilityMitochondrial BiogenesisOphthalmologyMitochondrial Function	2007	510
A de novo Alu insertion results in neurofibromatosis type 1 Margaret R. Wallace, Lone B. Andersen, Ann M. Saulino, Nature PathologyNeurofibromatosis Type 1NeurologyNeuropathologyMedicine	1991	451
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy Carmel Toomes Human Molecular Genetics Ocular DiseaseMendelian DisorderDoa PatientsOphthalmologyGenetic Disorder	2001	176
Dominant optic atrophy mapped to chromosome 3q region Birgit Kjer, Hans Eiberg, P Kjer, Acta Ophthalmologica Scandinavica	1996	176
Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia�A Arupa Ganguly, Tanya Dunbar, Peiqin Chen, Human Genetics GeneticsHematologyPathologyIntronic InsertionMolecular Genetics	2003	76
Dominant optic atrophy: correlation between clinical and molecular genetic studies Anu Puomila, Kirsi Huoponen, Maija Mäntyjärvi, Acta Ophthalmologica Scandinavica	2005	67
Whole genome computational comparative genomics: A fruitful approach for ascertaining Alu insertion polymorphisms Jianxin Wang, Lei Song, Mary Katherine Gonder, Gene Comparative GenomicsGeneticsEvolutionary BiologyComputational GenomicsStatistical Genetics	2006	65
Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome Patrick J. Tighe, S. Edward Stevens, Sean Dempsey, Genes and Immunity Autoimmune DiseaseFas GeneAutoantibody ProductionGenetic DisorderGenetics	2002	48

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