- High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia
- Alternative end joining during switch recombination in patients with ataxia-telangiectasia.
- Ataxia-telangiectasia.
- Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.
Table of Contents
1
UI - 11714443
AU - Tachibana A; Tatsumi K; Furuno-Fukushi I; Sasaki MS
TI -
High frequency of deletions at the hypoxanthine-guanine
phosphoribosyltransferase locus in an ataxia-telangiectasia
lymphoblastoid cell line irradiated with gamma-rays.
SO - Jpn J Cancer Res 2001 Nov;92(11):1190-8
AD - Radiation Biology Center, Kyoto University, Yoshida-Konoecho, Sakyo-ku,
Kyoto 606-8501. atachibana@house.rbc.kyoto-u.ac.jp
The molecular nature of gamma-ray-induced mutations at the
hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus in an
ataxia-telangiectasia (A-T) lymphoblastoid cell line was investigated.
Twelve of 15 gamma-ray-induced HPRT-deficient mutants showed deletions.
Eight of them had lost the entire HPRT gene, one showed a 1.9-kb
deletion, and three had deletions of about 40-150 base pairs. Of the
eight mutants that lost the entire gene, five had also lost both DXS79
and DXS86, flanking markers of the HPRT locus. The spectrum of mutations
induced by gamma-irradiation in the A-T cells showed a high frequency of
deletions in comparison with that in a control cell line, WIL2-NS.
Sequence analysis of breakpoint junctions in four mutants revealed that
three of them had junctions between short identical sequences at each
breakpoint, leaving one copy at the junction. These results suggest that
non-homologous end-joining is the major mechanism for deletion formation
in A-T cells.
2
UI - 11981817
AU - Pan Q; Petit-Frere C; Lahdesmaki A; Gregorek H; Chrzanowska KH;
TI -
Hammarstrom L
Alternative end joining during switch recombination in patients with
ataxia-telangiectasia.
SO - Eur J Immunol 2002 May;32(5):1300-8
AD - Division of Clinical Immunology, IMPI, Karolinska Institutet at Huddinge
Hospital, and Center for Biotechnology and Center for Oral Biology,
NOVUM, Huddinge, Sweden.
Ataxia-Telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are
recessive genetic diseases with similar cellular phenotypes that are
caused by mutations in the recently described ATM (encoding ATM) and
NBS1 (encoding p95) genes, respectively. Both disorders are accompanied
by immunodeficiency in a majority of patients, but the mechanism
involved has as yet not been established. We demonstrate that in cells
from A-T patients, the switch (S) recombination junctions are aberrant
and characterized by a strong dependence on short sequence homologies
and devoid of normally occurring mutations around the breakpoint. A low
number of S fragments were generated in cells from NBS patients and
showed only limited dependence on sequence identity and mutation
frequencies were similar to those observed in normal controls. We
propose that ATM and p95 are both involved in the final step(s) in class
switch recombination with related, but disparate, functional roles.
Thus, the general pathway involved in DNA repair also has a major
influence on the immunoglobulin isotype switching process.
3
UI - 11774566
AU - Becker-Catania SG; Gatti RA
TI -
Ataxia-telangiectasia.
SO - Adv Exp Med Biol 2001;495():191-8
AD - Department of Psychiatry and Biobehavioral Science, UCLA School of
Medicine, Los Angeles, CA 90095, USA.
4
UI - 11481721
AU - Klein C; Stewart GS; Quinn NP; Taylor AM
TI -
Ataxia without telangiectasia revisited: update on genetic findings in
two brothers with an ataxia-telangiectasia-like disorder.
SO - Mov Disord 2001 Jul;16(4):788-9
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