𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Splicing mutations at the HPRT locus in human T-lymphocytes in vivo

✍ Scribed by Anne-May Österholm; Sai-Mei Hou

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
183 KB
Volume
32
Category
Article
ISSN
0893-6692

No coin nor oath required. For personal study only.

✦ Synopsis

We studied 58 splicing mutations originating in observed. The predicted change in three of the base vivo at the hypoxanthine guanine phosphoribosyl-substitutions would be a stop codon. The tandem transferase (HPRT) locus in T-cells of 30 nonsmoking mutation (CC r TT) occurred at position 550-551, males. A nonrandom distribution of skipped exons a possible hotspot for splicing mutations (five of nine was seen after cDNA sequence analysis, with 71% previously reported base substitutions at position involving exons 2-3 (15), 4 (11), and 8 (15). The 551, all C r T, resulted in abnormal splicing). Four mutations likely to have caused the aberrant splic-of the base substitutions were new HPRT mutations, ing were identified in 36 mutants by genomic se-two in splice sites (IVS7-3T r G and IVS8 / 3A r quencing. The most frequently observed mutations C) and two in the coding sequence (307A r T and were simple base substitutions ( 27) and small dele-594C r G). All the small deletions (ú1 bp) affected tions (7). Among the base substitutions, 23 occurred the acceptor sites. The only three identified mutain the splice consensus sequences, mainly at the tions related to skipping of exons 2 and 3 were highly conserved dinucleotides (21), and preferen-located within exon 3, suggesting a frequent tially in the acceptor sites (15). The remaining four involvement of unknown splicing elements distant base substitutions occurred in the coding sequence from these exons.

📜 SIMILAR VOLUMES

Deletion and insertion in vivo somatic m
Deletion and insertion in vivo somatic mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene of human T-lymphocytes
✍ Karolyn J. Burkhart-Schultz; Irene M. Jones 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 2 views

Deletion and insertion mutations have been found to be a major component of the in vivo somatic mutation spectrum in the hypoxanthine phosphoribosyltransferase (hprt) gene of T-lymphocytes. In a population of 172 healthy people (average age, 34; mutant frequency, 10.3 x 10(-6)), deletion/insertion m

Transition mutations at CpG dinucleotide
Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-base substitution mutation in the human HPRT gene
✍ J. Patrick O'Neill; Barry A. Finette 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 1 views

of CpG dinucleotides within the HPRT gene and the fre-Studies of human genetic disorders have suggested that quency of mutations at these sites. 5-methylcytosine moieties in DNA may act as endoge-Germ cell mutations in the X-chromosome HPRT gene nous mutagens due to the increased deamination of C cl

Detection of cyclophosphamide-induced mu
Detection of cyclophosphamide-induced mutations at the Hprt but not the lacI locus in splenic lymphocytes of exposed mice
✍ Vernon E. Walker; Julie L. Andrews; Patricia B. Upton; Thomas R. Skopek; Johan G 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB 👁 1 views

The relative sensitivities and specificities of the endogenous Hprt gene and the lacI transgene as mutational targets were evaluated in splenic lymphocytes from male standard B6C3F1 mice (only Hprt assayed) and from lacI transgenic B6C3F1 mice treated at 6 -7 weeks-of-age with the indirectacting age

Lack of response to multiple genotoxic a
Lack of response to multiple genotoxic agents at the hprt locus in peripheral blood T-lymphocytes of cynomolgus monkeys
✍ D.M. Zimmer; P.R. Harbach; S.S. Mattano; R.L. Yu; W.B. Mattes; C.S. Aaron 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB 👁 2 views

We tested the ability of a series of known genotoxic agents to cause mutations at the hprt locus in peripheral blood T-lymphocytes of cynomolgus monkeys as measured by the ability to form clones in the presence of 6-thioguanine. Ethylmethane sulfonate (EMS, 300 mg/kg IP), chloroethylmethane sulfonat

Nature of mutation in the human hprt gen
Nature of mutation in the human hprt gene following in vivo exposure to ionizing radiation of cesium-137
✍ A. D. da Cruz; B. W. Glickman 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 2 views

The current study comprises the analysis of muta-assay with genomic DNA. Missense mutations were tions in 10 individuals accidentally exposed to ce-the most frequent event recovered, comprising 40% sium-137 during the 1987 radiological accident in (23/57) of the spectral sample. An excess of events

A new T-lymphocyte cloning assay for det
A new T-lymphocyte cloning assay for detection of in vivo mutations in the human hypoxanthine-guanine phosphoribosyltransferase gene
✍ Kazutsugu Uematsu; Jun Yasuda; Teruaki Sekine; Kokichi Sugano; Shoji Kudoh; Taka 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB 👁 2 views

The X-linked hypoxanthine-guanine phosphoribosyl-respectively. These data were similar to the reported transferase (hprt) gene is a target of analyses of in values. The mean MFs in the nine colon cancer pavivo mutation frequencies in circulating T-lympho-tients (10.6 { 7.3 1 10 06 ) were not signifi