PMID- 10398605
OWN - NLM
STAT- MEDLINE
DCOM- 19990727
LR  - 20190619
IS  - 0036-8075 (Print)
IS  - 0036-8075 (Linking)
VI  - 285
IP  - 5425
DP  - 1999 Jul 9
TI  - hRAD30 mutations in the variant form of xeroderma pigmentosum.
PG  - 263-5
AB  - Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by a
      high incidence of skin cancers. Yeast RAD30 encodes a DNA polymerase involved in 
      the error-free bypass of ultraviolet (UV) damage. Here it is shown that XP
      variant (XP-V) cell lines harbor nonsense or frameshift mutations in hRAD30, the 
      human counterpart of yeast RAD30. Of the eight mutations identified, seven would 
      result in a severely truncated hRad30 protein. These results indicate that
      defects in hRAD30 cause XP-V, and they suggest that error-free replication of UV 
      lesions by hRad30 plays an important role in minimizing the incidence of
      sunlight-induced skin cancers.
FAU - Johnson, R E
AU  - Johnson RE
AD  - Sealy Center for Molecular Science, University of Texas Medical Branch at
      Galveston, 6.104 Medical Research Building, 11th and Mechanic Streets, Galveston,
      TX 77555-1061, USA.
FAU - Kondratick, C M
AU  - Kondratick CM
FAU - Prakash, S
AU  - Prakash S
FAU - Prakash, L
AU  - Prakash L
LA  - eng
SI  - GENBANK/AF158185
GR  - GM19261/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Science
JT  - Science (New York, N.Y.)
JID - 0404511
RN  - 0 (DNA, Complementary)
RN  - 0 (Pyrimidine Dimers)
RN  - EC 2.7.7.- (DNA polymerase iota)
RN  - EC 2.7.7.7 (DNA-Directed DNA Polymerase)
RN  - EC 2.7.7.7 (Rad30 protein)
SB  - IM
CIN - Science. 1999 Jul 9;285(5425):212-3. PMID: 10428720
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Cell Line
MH  - DNA Damage
MH  - DNA Repair
MH  - *DNA Replication
MH  - DNA, Complementary
MH  - DNA-Directed DNA Polymerase/chemistry/*genetics/physiology
MH  - Frameshift Mutation
MH  - Humans
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Neoplasms, Radiation-Induced
MH  - Protein Biosynthesis
MH  - Pyrimidine Dimers/metabolism
MH  - Saccharomyces cerevisiae/genetics
MH  - Sequence Alignment
MH  - Sequence Deletion
MH  - Skin Neoplasms/etiology
MH  - Ultraviolet Rays
MH  - Xeroderma Pigmentosum/*genetics/metabolism
EDAT- 1999/07/10 00:00
MHDA- 1999/07/10 00:01
CRDT- 1999/07/10 00:00
PHST- 1999/07/10 00:00 [pubmed]
PHST- 1999/07/10 00:01 [medline]
PHST- 1999/07/10 00:00 [entrez]
AID - 7658 [pii]
AID - 10.1126/science.285.5425.263 [doi]
PST - ppublish
SO  - Science. 1999 Jul 9;285(5425):263-5. doi: 10.1126/science.285.5425.263.