Results 251 to 260 of about 132,731 (277)

Two New α-Thalassemia Frameshift Mutations

Hemoglobin, 2007
alpha-Thalassemia (thal) is common all over the world. Most of the mutations encountered are of the deletional type. We now report two frameshift alpha-thal mutations: a novel alpha1-globin gene deletion at codon 62 (GTG -->-TG) found in an African American man, and a second report on an alpha2-globin gene deletion at codon 22 (GGC-->GG -) found in a ...
Hong-Yuang, Luo, Adeboye H, Adewoye, Monika, Pilichowska, Michael Yunlong, Li, Raveen K, Basran, Martin H, Steinberg, David H K, Chui   +6 more
openaire   +2 more sources

Frameshift mutation events in β-glucosidases

Gene, 2003
Compensated frameshift mutation is a modification of the reading frame of a gene that takes place by way of various molecular events. It appears to be a widespread event that is only observed when homologous amino acid and nucleodotide sequences are compared. To identify these mutation events, the sequence analysis rationale was based on the search for
Antonio, Rojas, Santiago, Garcia-Vallvé, Miguel A, Montero, Lluís, Arola, Antoni, Romeu   +4 more
openaire   +2 more sources

Stabilization of the intermediate in frameshift mutation

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 1999
A mismatch repair, proofreading deficient mutant of Escherichia coli lost a C from a C8 run at a rate 10 times higher than the loss of A from an A8 sequence in the same double mutant. This greater frameshift instability of a homopolymeric run of C's may be due to stabilization of a stacked intermediate.
D, Sagher, A, Hsu, B, Strauss
openaire   +2 more sources

Polymerase Infidelity and Frameshift Mutation

1982
Mutant T4 DNA polymerases which alter mutation rates in vivo have been used to approach questions of replication fidelity. Most studies have characterized “mutator” or “antimutator” polymerases by their influence upon base-pair substitution mutation, particularly transitions.
L S, Ripley, N B, Shoemaker
openaire   +2 more sources

Functional divergence of proteins through frameshift mutations

Trends in Genetics, 2005
Frameshift mutations are generally considered to be deleterious and of little importance for the evolution of novel gene functions. However, by screening an exhaustive set of vertebrate gene families, we found that, when a second transcript encoding the original gene product compensates for this mutation, frameshift mutations can be retained for ...
Jeroen, Raes, Yves, Van de Peer
openaire   +2 more sources

FRAMESHIFT MUTATION: DETERMINANTS OF SPECIFICITY

Annual Review of Genetics, 1990
I NTRODUCTION 189 A REPERTOIRE OF FRAMESHIFT M ODELS 190 Additions or Deletions Mediated by a Single Misalignment. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 191 Mutations Mediated by Multiple Misalignments . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 197 Frameshifts at Nicks: A Role for Misiigation . . . . . .
openaire   +2 more sources

Suppressors of frameshift mutations in Salmonella typhimurium

Journal of Molecular Biology, 1970
Abstract Suppressors specific for frameshift mutations have been studied. Of 21 frameshift mutations of the histidine operon selected for study, 13 gave rise to ICR † -induced external suppressors. Five of these mutants also gave rise to nitrosoguanidine-induced suppressors.
D L, Riddle, J R, Roth
openaire   +2 more sources

MEN1 family with a novel frameshift mutation

Journal of Endocrinological Investigation, 2006
Multiple endocrine neoplasm type 1 (MEN1) syndrome predisposes to the development of endocrine and non-endocrine tumors with an autosomal dominant pattern of inheritance. Different mutations have been found throughout the gene with a variable phenotype expression.
Nuzzo, V, Tauchmanová, L, Falchetti, A, Faggiano, A, Marini, F, Piantadosi, S, Brandi, M L, Leopaldi, L, Colao, A   +8 more
openaire   +5 more sources

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

Human Molecular Genetics, 1993
The rare lysosomal storage disease, fucosidosis results from an almost complete deficiency of alpha-L-fucosidase (EC 3.2.1.51). We have identified six new potential disease causing mutations detected by PCR amplification and sequencing of all 8 exons of the alpha-L-fucosidase gene FUCA1.
Seo, Hee-Chan, Willems, Patrick J., O'Brien, John S.   +2 more
openaire   +3 more sources

Frameshift mutation, microsatellites and mismatch repair

Mutation Research/Reviews in Mutation Research, 1999
The structure of eukaryotic DNA, with its repeated sequences, makes base addition and loss a major obstacle to the maintenance of genetic stability. As compared to the bacteria, much of the mismatch repair capacity of the eukaryotic cell must be devoted to the surveillance of frameshift changes.
openaire   +2 more sources