Gene: [09q223/XPA2] xeroderma pigmentosum, complementation group A2; fast complementation DNA repair in xeroderma (group A2); [XPA XP1 XPAC ]
COM | MIM, with reference to the data of Takebe-1989 (personal communication) on the cloning of this gene and results of in situ hybridization on chromosome, indicates its regional location as 9q22, while Henning-1989, basing on results of blot hybridization with somatic hybrid DNA, reported the localization to 9q34. Possibly different forms and genes of xeroderma pigmentosum are dealt with." |
MOP | Fast kinetic is characteristic for the complementation. |
HET | This form of xerodeerma pigmentosum was previously (Keijzer-1984,1987) mapped to Chr 1 (GEM:01q4/XPA1). However, in 1989 (see Comment) it was demonstrated that a similar (with respect to clinical genetic features) mutation is related to a gene in Chr 9q. This suggests a genetic heterogeneity in complementation group A of reparation mutations; more than ten forms of xeroderma pigmentosum are currently known; for more details, see GEM:01q4/XPA1." |
REF | REV,MOP,EXP,LOC "Cleaver JE: Carcinogenesis, 11, 875-882,
1990 LIN,PAT "El-Hefnawi &: Ann Hum Genet, 28, 273-290, 1965 LOC,CYG "Henning &: J Cell Biochem Suppl, 13, (D), 53, 1989 LOC,CYG "Kaur GP, Athwal: PNAS, 86, N22, 8872-8876, 1989 COM,LOC,CYG,MEB "Keijzer W &: Exp Cell Res, 169, 490-501, 1987 COM,LOC,CYG,MEB "Keijzer W &: CCG, 37, (HGM7), 508, 1984 PHE "Keijzer W &: Exp Cell Res, 140, 119-125, 1982 REV,PAT,PHE "Kraemer &: Arch Derm, 123, 241-250, 1987 |
SWI | SWISSPROT: P23025 |
KEY | derm, neu, repr |
CLA | coding, basic |
LOC | 09 q22.3 |
MIM | MIM: 278700 |
SYN | XPA XP1 XPAC |
