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

Down’s syndrome (DS) is an autosomal recessive human disorder caused by an extra copy of chromosome 21. DS patients are characterized by dwarfism and mental re tardation accompanied by an increased incidence of cancer development in various tissues and organs. DS patients also show signs of...

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

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

Ataxia telangiectasia (AT) is an autosomal recessive multisystem human disorder and patients are characterized by cerebellar ataxia, oculocutaneous telangiectasia, immuno deficiency, chromosomal instability and radio sensitivity with an increased predisposition to lymphoid cancer in childhood....

Loss of telomere homeostasis via chromosome-genomic instability might effectively pro mote tumour progression. Telomere function may have contrasting roles: inducing rep licative senescence and promoting tumourigenesis and these roles may vary between cell types depending on the expression of...

Since the cloning of the BRCA1 and BRCA2 genes less than 10 years ago, a great deal of effort 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 functions through binding or colocalization with...

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

Trichothiodystrophy (TTD) is a rare autosomal recessive multisystem disorder characterized by sulfur-deficient brittle hair, mental and physical retardation, ichthyosis, and, in many patients, cutaneous photosensitivity but no cancer incidence. All sun-sensitive TTD 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...