Open AccessHuman DNA repair diseases: From genome instability to cancer
Author(s) -
Carlos Renato Machado,
C. F. M. Menck
Publication year - 1997
Publication title -
brazilian journal of genetics
Language(s) - English
Resource type - Journals
eISSN - 1678-4502
pISSN - 0100-8455
DOI - 10.1590/s0100-84551997000400032
Subject(s) - xeroderma pigmentosum , biology , dna repair , human genome , genome instability , genetics , dna , genome , cancer , dna damage , computational biology , gene
Several human genetic syndromes have long been recognized to be defective in DNA repair mechanisms. This was first discovered by Cleaver (1968), who showed that cells from patients with xeroderma pigmentosum (XP) were defective for the ability to remove ultraviolet (UV)-induced lesions from their genome. Since then, new discoveries have promoted DNA repair studies to one of the most exciting areas of molecular biology. The present work intends to give a brief summary of the main known human genetic diseases related to DNA repair and how they may be linked to acquired diseases such as cance