PMID- 10612394
OWN - NLM
STAT- MEDLINE
DCOM- 20000118
LR  - 20220330
IS  - 0092-8674 (Print)
IS  - 0092-8674 (Linking)
VI  - 99
IP  - 6
DP  - 1999 Dec 10
TI  - The DNA double-strand break repair gene hMRE11 is mutated in individuals with an 
      ataxia-telangiectasia-like disorder.
PG  - 577-87
AB  - We show that hypomorphic mutations in hMRE11, but not in ATM, are present in
      certain individuals with an ataxia-telangiectasia-like disorder (ATLD). The
      cellular features resulting from these hMRE11 mutations are similar to those seen
      in A-T as well as NBS and include hypersensitivity to ionizing radiation,
      radioresistant DNA synthesis, and abrogation of ATM-dependent events, such as the
      activation of Jun kinase following exposure to gamma irradiation. Although the
      mutant hMre11 proteins retain some ability to interact with hRad50 and Nbs1,
      formation of ionizing radiation-induced hMre11 and Nbs1 foci was absent in hMRE11
      mutant cells. These data demonstrate that ATM and the hMre11/hRad50/Nbs1 protein 
      complex act in the same DNA damage response pathway and link hMre11 to the
      complex pathology of A-T.
FAU - Stewart, G S
AU  - Stewart GS
AD  - The University of Birmingham CRC Institute for Cancer Studies, The Medical School
      Edgbaston, United Kingdom.
FAU - Maser, R S
AU  - Maser RS
FAU - Stankovic, T
AU  - Stankovic T
FAU - Bressan, D A
AU  - Bressan DA
FAU - Kaplan, M I
AU  - Kaplan MI
FAU - Jaspers, N G
AU  - Jaspers NG
FAU - Raams, A
AU  - Raams A
FAU - Byrd, P J
AU  - Byrd PJ
FAU - Petrini, J H
AU  - Petrini JH
FAU - Taylor, A M
AU  - Taylor AM
LA  - eng
GR  - GM56888/GM/NIGMS NIH HHS/United States
GR  - GM59413/GM/NIGMS NIH HHS/United States
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Cell
JT  - Cell
JID - 0413066
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (MRE11 protein, human)
RN  - 0 (NBN protein, human)
RN  - 0 (Nuclear Proteins)
RN  - EC 3.1.- (MRE11 Homologue Protein)
RN  - EC 3.6.- (Acid Anhydride Hydrolases)
RN  - EC 3.6.- (Rad50 protein, human)
RN  - EC 6.5.1.- (DNA Repair Enzymes)
SB  - IM
MH  - Acid Anhydride Hydrolases
MH  - Ataxia Telangiectasia/*genetics/metabolism/pathology
MH  - Cell Cycle Proteins/genetics/metabolism
MH  - Cell Line
MH  - DNA Damage/genetics
MH  - DNA Mutational Analysis
MH  - DNA Repair/*genetics
MH  - *DNA Repair Enzymes
MH  - DNA-Binding Proteins/*genetics/metabolism
MH  - Fibroblasts/metabolism/pathology/radiation effects
MH  - Gamma Rays
MH  - Humans
MH  - MRE11 Homologue Protein
MH  - Mutation, Missense/genetics
MH  - *Nuclear Proteins
EDAT- 1999/12/28 00:00
MHDA- 1999/12/28 00:01
CRDT- 1999/12/28 00:00
PHST- 1999/12/28 00:00 [pubmed]
PHST- 1999/12/28 00:01 [medline]
PHST- 1999/12/28 00:00 [entrez]
AID - S0092-8674(00)81547-0 [pii]
AID - 10.1016/s0092-8674(00)81547-0 [doi]
PST - ppublish
SO  - Cell. 1999 Dec 10;99(6):577-87. doi: 10.1016/s0092-8674(00)81547-0.