Search PubMed⌕ Search
Home/Archive/PubMed

PubMed · 8791513

Practical methods of mutation detection.

R D Mashal·J Sklar
View original source ↗Export metadata ↓

Abstract

The past few years have seen a marked increase in the demand for practical methods of mutation detection. Over this period of time, both the development of new methods and improvements in existing methods have made mutation detection in the research setting a less cumbersome task. Nevertheless, all of the commonly used approaches to this problem are labor intensive, and truly practical mutation detection methods in the clinical setting will depend on the development of more fully automated technology.

Explore related subjects

DNA Mutational AnalysisForecastingGenetic TechniquesHumansMutationNucleic Acid ConformationSequence Analysis, DNAJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

R D Mashal, J Sklar. 1996. Practical methods of mutation detection.. https://doi.org/10.1016/s0959-437x(96)80002-5

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed1999

Mutational analysis of p73 and p53 in human cancer cell lines.

p73 is a candidate tumor suppressor gene with substantial DNA and protein homology to the p53 tumor suppressor gene. We have investigated two hypotheses: (a) p73 is mutated in diverse types of human cancer, and (b) p73 is functionally redundant with p53 in carcinogenesis so that mutations would be exclusive in these two genes. The entire coding region and intronic splice junctions of p73 were examined in 54 cancer cell lines. Three lung cancer cell lines contained mutations that affected the amino acid sequence. One amino acid substitution was in a region with homology to the specific DNA binding region of p53 and two microdeletions were outside the region of homology. Two of the cell lines with p73 mutations also carried p53 mutations. Although our results are inconsistent with the two hypotheses tested, p73 mutations may contribute infrequently to the molecular pathogenesis of human lung cancer.

DNA Mutational Analysis↗
PubMed1999

Merlin: the neurofibromatosis 2 tumor suppressor.

In recent years, it has become clear that the ERMs occupy a crucial position as protein linkers that both respond to and participate in reorganization of membrane-cytoskeletal interactions. With the identification of new binding partners, the ERMs are also implicated in linked regulation of the activities of particular membrane proteins. Thus, they reside at a junction in a complex web of interactions that must respond to stimuli from both outside and inside the cell. As expected from its structural motifs, merlin behaves in a manner similar to the ERM proteins, but with some notable differences. Chief among these is the absence of intramolecular interaction to mask intermolecular interaction domains in isoform 2. The full range of merlin's intermolecular interactions remains to be delineated, but it can be expected from the comparison to ERMs that merlin also sits within a web of interactions that may involve multiple partners and signaling pathways, some of which it shares with the ERMs. Defining merlin's tumor suppressor function will likely require identifying those differences that are peculiarly important in the target cell types of NF2. However, the fact that inactivation of merlin in the mouse by targeted mutagenesis produces a variety of malignant tumors with a high rate of metastasis [33] suggests that merlin's suppression of tumor formation may involve different partners and pathways in different cell types and genetic backgrounds. Consequently, the disruptions due to merlin inactivation in the progression of malignant mesothelioma may represent a tumor suppressor role operating by a different pathway than that in schwannoma or meningioma.

DNA Mutational Analysis↗