RecQ family DNA helicases are defined by amino acid sequence similarities to Escherichia coli RecQ which has been known to act in homologous recombination and tosuppress illegitimate recombination, particularly during the repair of DNA doublestrand breaks. Five RecQ family genes have been...

Down’s syndrome (DS) is an autosomal recessive human disorder caused by an extracopy of chromosome 21. DS patients are characterized by dwarfism and mental retardation accompanied by an increased incidence of cancer development in varioustissues and organs. DS patients also show signs of...

Studies on cancer-prone and rare human genetic disorders often lead to significantadvances in our understanding of the complex network of genome stability and DNArepair pathways that have evolved in the human genome to prevent the harmful effectsof exposure to DNA damaging agents. One such...

Xeroderma pigmentosum (XP),1 Cockayne syndrome (CS)2,3 and xerodermapigmentosum-Cockayne syndrome (XP-CS)4,5 are rare disorders with autosomal recessiveinheritance, characterized by extreme sensitivity to sunlight. This sensitivity reflectsthe inadequate removal and/or repair of UV-induced...

Ataxia telangiectasia (AT) is an autosomal recessive multisystem human disorder andpatients are characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, chromosomal instability and radio sensitivity with an increased predispositionto lymphoid cancer in childhood....

Loss of telomere homeostasis via chromosome-genomic instability might effectively promote tumour progression. Telomere function may have contrasting roles: inducing replicative senescence and promoting tumourigenesis and these roles may vary between celltypes depending on the expression of...

Since the cloning of the BRCA1 and BRCA2 genes less than 10 years ago, a great deal ofeffort has been expended in attempting to uncover the functions of the encoded proteins.BRCA1 and BRCA2 have now been linked to a wide variety of cellular functionsthrough binding or colocalization with...

Werner’s syndrome (WS) and Cockayne syndrome (CS) are rare human autosomalrecessive disorders classified as segmental progeroid disorders. WS is marked bypremature onset of age-related phenotypic changes (such as cataract and greying ofhair etc) and genome instability. Cells derived from...

Trichothiodystrophy (TTD) is a rare autosomal recessive multisystem disorder characterizedby sulfur-deficient brittle hair, mental and physical retardation, ichthyosis, and,in many patients, cutaneous photosensitivity but no cancer incidence. All sun-sensitiveTTD cases appear to be...

Reactive oxygen species (ROS) are produced during the respiratory cycle in mitochon- dria,1 as well as normal cellular and xenobiotic metabolism. Exposure to various noxious insults can also lead to ROS production. In addition, ROS are also generated through metal-catalyzed reactions. A...