Fragile sites in chromosomes: possible model for the study of spontaneous chromosome breakage

Science ◽  
1983 ◽  
Vol 220 (4592) ◽  
pp. 69-70 ◽  
Author(s):  
P. Jacky ◽  
B Beek ◽  
G. Sutherland
Keyword(s):  
Chromosome Breakage ◽  
Fragile Sites ◽  
Spontaneous Chromosome

Riyadh Chromosome Breakage Syndrome: Mental Retardation With Depigmentation of the Skin and Hair

1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S79-S82 ◽  
Author(s):  
Pinar T. Ozand ◽  
Manjula Waghray ◽  
Jay D. Cook ◽  
Kirtikant Sheth ◽  
Generoso G. Gascon
Keyword(s):  
Mental Retardation ◽  
Sister Chromatid ◽  
Chromosome Breakage ◽  
Hair Color ◽  
Γ Irradiation ◽  
Exchange Frequency ◽  
Chromosome Breaks ◽  
Chromosome Breakage Syndrome ◽  
Sister Chromatid Exchange Frequency ◽  
Spontaneous Chromosome

A 20-month-old infant with "silvery-blond" hair color, widespread confettilike depigmentation of the skin, and mental retardation was found to have, in lymphocytes and fibroblast cultures, increased spontaneous chromosome breaks and breaks induced by both mitomycin and γ-irradiation. The sister chromatid exchange frequency was normal. This child probably represents a new chromosome breakage syndrome. (J Child Neurol 1992;7(Suppl):S79-S82.)

Spontaneous chromosome breakage in hybrid endosperms

Chromosoma ◽  
1956 ◽  
Vol 8 (1) ◽  
pp. 317-340 ◽  
Author(s):  
Alfred Rutishauser ◽  
L. F. La Cour
Keyword(s):  
Chromosome Breakage ◽  
Spontaneous Chromosome

scholarly journals Spontaneous chromosome breakage in natural populations of Najas marina

Hereditas ◽  
2009 ◽  
Vol 88 (2) ◽  
pp. 279-283 ◽  
Author(s):  
Yrjö Viinikka ◽  
Maija Kotimäki ◽  
Kirsi Litmanen
Keyword(s):  
Natural Populations ◽  
Chromosome Breakage ◽  
Najas Marina ◽  
Spontaneous Chromosome

scholarly journals Palindromes in DNA—A Risk for Genome Stability and Implications in Cancer

2021 ◽  
Vol 22 (6) ◽  
pp. 2840
Author(s):  
Marina Svetec Miklenić ◽  
Ivan Krešimir Svetec
Keyword(s):  
Human Genome ◽  
Genome Stability ◽  
Molecular Mechanisms ◽  
Genetic Recombination ◽  
Chromosome Breakage ◽  
Fragile Sites ◽  
Cis Acting ◽  
Underlying Mechanisms ◽  
Palindromic Sequences ◽  
Genetic Rearrangements

A palindrome in DNA consists of two closely spaced or adjacent inverted repeats. Certain palindromes have important biological functions as parts of various cis-acting elements and protein binding sites. However, many palindromes are known as fragile sites in the genome, sites prone to chromosome breakage which can lead to various genetic rearrangements or even cell death. The ability of certain palindromes to initiate genetic recombination lies in their ability to form secondary structures in DNA which can cause replication stalling and double-strand breaks. Given their recombinogenic nature, it is not surprising that palindromes in the human genome are involved in genetic rearrangements in cancer cells as well as other known recurrent translocations and deletions associated with certain syndromes in humans. Here, we bring an overview of current understanding and knowledge on molecular mechanisms of palindrome recombinogenicity and discuss possible implications of DNA palindromes in carcinogenesis. Furthermore, we overview the data on known palindromic sequences in the human genome and efforts to estimate their number and distribution, as well as underlying mechanisms of genetic rearrangements specific palindromic sequences cause.

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