Truncated XPA protein detected in atypical group A xeroderma pigmentosum.
XPA protein from a patient with typical group A xeroderma pigmentosum (XP) and three atypical group-A XP patients were analysed. Immunoblot analysis of XPA proteins revealed that a typical group-A XP patient showed no XPA protein band, while a smaller, truncated XPA protein, which appears to be responsible for mid skin lesions and minimal neurological abnormalities, was detected in cells from three atypical group-A XP patients. Furthermore, the difference in the amount of truncated XPA protein correlated with the mildness of neurological manifestations in these three atypical group-A XP patients. The results suggest a correlation between clinical manifestations and qualitative and quantitative abnormalities of XPA protein products.
Mimaki
T
T
Department of Paediatrics, Osaka Medical College, National Sanatorium Yakumo Hospital, Japan.
Nitta
M
M
Saijo
M
M
Tachi
N
N
Minami
R
R
Tanaka
K
K
D000293:Adolescent; D015153:Blotting, Western; D004268:DNA-Binding Proteins / Q000032:analysis*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D012720:Severity of Illness Index; D014983:Xeroderma Pigmentosum / Q000145:classification / Q000235:genetics / Q000473:pathology*; D051760:Xeroderma Pigmentosum Group A Protein
D004268:DNA-Binding Proteins; C497314:XPA protein, human; D051760:Xeroderma Pigmentosum Group A Protein