A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene

Human Molecular Genetics
V Oron-KarniA Oppenheim

Abstract

A novel mechanism generating short deletion/insertions is described based on a mutation in the human alpha2-globin gene. A deletion of 9 bp (codons 39-41) is replaced by an eight nucleotide insertion, duplicating the adjacent downstream sequence. We propose that the mutation arose by slipped strand mispairing (SSM), creating a single-stranded loop, followed by DNA elongation, strand breathing and the formation of a mismatch bubble. An extensive literature search has revealed six additional deletion/insertion mutations in humans in which the inserted nucleotides come from the same DNA strand. Our model explains all six mutations, suggesting that rearrangement of a mismatch loop or bubble during DNA replication may be not uncommon.

References

Aug 1, 1991·Human Genetics·D N Cooper, M Krawczak
May 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·S L TheinD J Weatherall
Feb 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·T TaharaL E Rosenberg
Mar 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·R A GibbsC T Caskey
Jul 1, 1987·Molecular and Cellular Biology·N BaranH Manor
Jul 20, 1988·Journal of Molecular Biology·B S Singer, J Westlye
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jan 1, 1981·Methods in Enzymology·M Goossens, Y Y Kan
Oct 1, 1980·Cell·A EfstratiadisN J Proudfoot
Nov 1, 1994·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·P Karran, M Bignami
Sep 1, 1994·Nature Genetics·E E EichlerD L Nelson
Apr 1, 1994·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·G Bates, H Lehrach
Feb 1, 1994·Nature Genetics·R WoosterO D Wiestler
Mar 1, 1993·Baillière's Clinical Haematology·D R Higgs
Mar 1, 1993·Baillière's Clinical Haematology·S L Thein
Oct 1, 1995·Human Molecular Genetics·N TatsumiM Taniike

❮ Previous
Next ❯

Citations

Nov 14, 2000·American Journal of Hematology·V Oron-KarniD Rund
Aug 22, 2000·Parasitology Today·S M RichF J Ayala
Jul 21, 1998·Annals of the New York Academy of Sciences·D RundA Oppenheim
Jun 22, 2000·Proceedings of the National Academy of Sciences of the United States of America·S M Rich, F J Ayala
Jan 17, 2012·Hemoglobin·Hai-Shen TangDong-Zhi Li
Sep 16, 2006·Human Mutation·Kelly D GonzalezSteve S Sommer
Jun 8, 2011·Haemophilia : the Official Journal of the World Federation of Hemophilia·C Silva PintoM Letícia Ribeiro
Feb 19, 2002·Clinical Endocrinology·S Faisal Ahmed, Ieuan A Hughes
Feb 6, 2017·European Journal of Haematology·Oded GiladHannah Tamary

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.