Chapter title |
Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites
|
---|---|
Chapter number | 21 |
Book title |
DNA Replication
|
Published in |
Advances in experimental medicine and biology, January 2017
|
DOI | 10.1007/978-981-10-6955-0_21 |
Pubmed ID | |
Book ISBNs |
978-9-81-106954-3, 978-9-81-106955-0
|
Authors |
Wenyi Feng, Arijita Chakraborty, Feng, Wenyi, Chakraborty, Arijita |
Abstract |
Chromosome fragile sites are a fascinating cytogenetic phenomenon now widely implicated in a slew of human diseases ranging from neurological disorders to cancer. Yet, the paths leading to these revelations were far from direct, and the number of fragile sites that have been molecularly cloned with known disease-associated genes remains modest. Moreover, as more fragile sites were being discovered, research interests in some of the earliest discovered fragile sites ebbed away, leaving a number of unsolved mysteries in chromosome biology. In this review we attempt to recount some of the early discoveries of fragile sites and highlight those phenomena that have eluded intense scrutiny but remain extremely relevant in our understanding of the mechanisms of chromosome fragility. We then survey the literature for disease association for a comprehensive list of fragile sites. We also review recent studies addressing the underlying cause of chromosome fragility while highlighting some ongoing debates. We report an observed enrichment for R-loop forming sequences in fragile site-associated genes than genomic average. Finally, we will leave the reader with some lingering questions to provoke discussion and inspire further scientific inquiries. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Australia | 1 | 25% |
Spain | 1 | 25% |
Unknown | 2 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 52 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 12 | 23% |
Student > Doctoral Student | 6 | 12% |
Student > Bachelor | 6 | 12% |
Student > Ph. D. Student | 6 | 12% |
Student > Master | 5 | 10% |
Other | 8 | 15% |
Unknown | 9 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 20 | 38% |
Agricultural and Biological Sciences | 7 | 13% |
Nursing and Health Professions | 5 | 10% |
Medicine and Dentistry | 5 | 10% |
Environmental Science | 1 | 2% |
Other | 3 | 6% |
Unknown | 11 | 21% |