ArticleHuman genetics1991
Mechanisms of insertional mutagenesis in human genes causing genetic disease.
Article in Human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35 citing papers in PubMed, 141 citations in OpenAlex.
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- Manganese Ions Individually Alter the Reverse Transcription Signature of Modified Ribonucleosides.Genes · 2020Article
- The first case report of double homozygous of 2 different mutations in theInternational journal of pediatrics & adolescent medicine · 2017Article
- Non-random distribution of homo-repeats: links with biological functions and human diseases.Scientific reports · 2016Article
- New clinical and molecular insights on Barth syndrome.Orphanet journal of rare diseases · 2013Article
- Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.Journal of clinical immunology · 2012Article
- Genetics and immunopathology of chronic granulomatous disease.Seminars in immunopathology · 2008Review
- Channel glass-based detection of human short insertion/deletion polymorphisms by tandem hybridization.Molecular biotechnology · 2008Article
- A novel frameshift mutation (+G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values.Journal of clinical pathology · 2005Article
- Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.Journal of human genetics · 2003Article
- Human diallelic insertion/deletion polymorphisms.American journal of human genetics · 2002Article
- Human gene mutation in pathology and evolution.Journal of inherited metabolic disease · 2002Review
- Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).Journal of medical genetics · 1998Article
- Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).Journal of inherited metabolic disease · 1998Article
- Characterization of mutations in patients with multiple endocrine neoplasia type 1.American journal of human genetics · 1998Article
- Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.American journal of human genetics · 1997Article
- Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.Molecular medicine (Cambridge, Mass.) · 1997Article
- Stability of an inverted repeat in a human fibrosarcoma cell.Nucleic acids research · 1996Article
- Molecular genetics of neurofibromatosis type 1 (NF1).Journal of medical genetics · 1996Review
- Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region.Human genetics · 1995Article
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Examples of the insertion of less than 10 bp of DNA sequence into human gene-coding regions causing genetic disease were collated in order to study the underlying causative mechanisms. The nature of these insertions was found to be consistent with several mechanisms of mutagenesis including: (1) slipped mispairing mediated by direct repeats or runs of identical bases and (2) the templated misincorporation of bases by secondary-structure intermediates whose formation is facilitated by palindromic (inverted repeat) sequences, quasi-palindromic sequences or symmetric elements. Both the size and position of insertions were found to be non-random and highly dependent upon the surrounding DNA sequence. Inferred mechanisms of insertional mutagenesis thus appear to be very similar to those involved in the causation of gene deletions.
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