Increase of sister chromatid exchanges in excision repair deficient xeroderma pigmentosum

1989 ◽  
Vol 81 (3) ◽  
Author(s):  
Rosa Aledo ◽  
Georges Renault ◽  
Marguerite Prieur ◽  
MarieFran�oise Avril ◽  
Bertrand Chr�tien ◽  
...  
Keyword(s):  
Sister Chromatid ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Sister Chromatid Exchanges ◽  
Chromatid Exchanges

scholarly journals SISTER CHROMATID EXCHANGE IN XERODERMA PIGMENTOSUM CELLS THAT ARE DEFECTIVE IN DNA EXCISION REPAIR OR POST-REPLICATION REPAIR

Genetics ◽  
1975 ◽  
Vol 81 (2) ◽  
pp. 349-355
Author(s):  
Sheldon Wolff ◽  
Judy Bodycote ◽  
G H Thomas ◽  
James E Cleaver
Keyword(s):  
Dna Repair ◽  
Sister Chromatid ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Sister Chromatid Exchanges ◽  
Normal Limits ◽  
Repair Enzymes ◽  
Sister Chromatids ◽  
Post Replication Repair ◽  
Chromatid Exchanges

ABSTRACT The formation of sister chromatid exchanges has been postulated to depend upon the action of DNA repair enzymes. Our experiments with various human cell lines show that the yield of sister chromatid exchanges is within normal limits in both excision-repair-defective and post-replication-repair-defective cells from the autosomal recessive disease, xeroderma pigmentosum. These results indicate that hypotheses invoking known DNA repair processes to account for the recombination of sister chromatids are inadequate and that the exact enzymatic processes are as yet unknown.

scholarly journals Molecular mechanism in a rare autosomal recessive case of xeroderma pigmentosum - a case report

2014 ◽  
Vol 03 (03) ◽  
pp. 178-183
Author(s):  
Vijaya Ramanathan ◽  
Anand Ramanathan
Keyword(s):  
Case Report ◽  
Xeroderma Pigmentosum ◽  
Chromosomal Instability ◽  
Autosomal Recessive ◽  
Excision Repair ◽  
Sister Chromatid Exchanges ◽  
Ocular Manifestations ◽  
Nucleotide Excision ◽  
Chromosomal Breaks ◽  
Chromatid Exchanges

AbstractChromosomal instability syndromes are a special group of disorders of cytogenetic interest which comprises of several rare, autosomal recessive conditions. Following exposure to sunlight, excessive chromosomal instability, breakage, defective nucleotide excision repair in DNA, defective apoptosis and increased susceptibility to neoplasia occurs. Xeroderma pigmentosum (XP) is characterised by the presence of chromosomal breakages, associated with increased frequency of sister chromatid exchanges. This is a case report of a 6 year old, male child having XP with dermal and ocular manifestations. Chromosomal breaks in chromosomal spread are seen. If it occurs in families, consanguinous marriages should be avoided; appropriate genetic counselling suggested and simple sun guarding techniques with appropriate protection from UV exposure can reduce the morbidity in these patients.

Sister chromatid exchanges in cells defective in mismatch, post-replication and excision repair

Mutagenesis ◽  
1995 ◽  
Vol 10 (5) ◽  
pp. 457-462 ◽  
Author(s):  
Veena Afzal ◽  
Luzviminda Feeney ◽  
Greg H. Thomas ◽  
John P. G. Volpe ◽  
James E. Cleaver
Keyword(s):  
Sister Chromatid ◽  
Excision Repair ◽  
Sister Chromatid Exchanges ◽  
Chromatid Exchanges ◽  
In Cells
Sign in / Sign up

Export Citation Format

Share Document