Human Genetics

, Volume 88, Issue 6, pp 603–607

Molecular basis of group A xeroderma pigmentosum: A missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene

  • Ichiro Satokata
  • Kiyoji Tanaka
  • Yoshio Okada
Original Investigations

DOI: 10.1007/BF02265282

Cite this article as:
Satokata, I., Tanaka, K. & Okada, Y. Hum Genet (1992) 88: 603. doi:10.1007/BF02265282

Summary

The molecular basis of group A xeroderma pigmentosum (XP) was investigated, and 3 mutations located in a zinc finger consensus sequence (nucleotide 313–387) of the XP group A complementing (XPAC) gene were identified in 2 Caucasian patients GM2990 and GM2009 who had typical symptoms of group A XP. The first mutation was a C deletion at nucleotide 374. Patient GM2990 was a homozygote for this mutation. The second mutation was a 5-bp deletion (CTTAT) at nucleotides 349–353. The third mutation was a G to T transversion at nucleotide 323 that alters the Cys-108 codon (TGT) to a Phe codon (TTT). Patient GM2009 was a compound heterozygote for the 5-bp deletion and the missense mutation. Both deletions introduce frameshifts with premature translation terminations resulting in instability of the XPAC mRNA and disruption of the putative zinc finger domain of the XPAC protein. The missense mutation also predicts disruption of the zinc finger domain of the XPAC protein. The expression study showed that the missense mutation does indeed causes loss of repair activity of the XPAC protein. We conclude that these 3 mutations are responsible for group A XP.

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • Ichiro Satokata
    • 1
  • Kiyoji Tanaka
    • 1
  • Yoshio Okada
    • 1
  1. 1.Institute for Molecular and Cellular BiologyOsaka UniversityOsakaJapan