Abstract
Human cells express five DNA helicases that are paralogs of Escherichia coli RecQ and which constitute the family of human RecQ helicases. Disease-causing mutations in three of these five human DNA helicases, BLM, WRN, and RECQL4, cause rare severe human genetic diseases with distinct clinical phenotypes characterized by developmental defects, skin abnormalities, genomic instability, and cancer susceptibility. Although biochemical and genetic evidence support roles for all five human RecQ helicases in DNA replication, DNA recombination, and the biological responses to DNA damage, many questions concerning the various functions of the human RecQ helicases remain unanswered. Researchers investigating human and non-human RecQ helicases held a workshop on May 27-28, 2008, at the University of Chicago Gleacher Center, during which they shared insights, discussed recent progress in understanding the biochemistry, biology, and genetics of the RecQ helicases, and developed research strategies that might lead to therapeutic approaches to the human diseases that result from mutations in RecQ helicase genes. Some workshop sessions were held jointly with members of a recently formed advocacy and support group for persons with Bloom's syndrome and their families. This report describes the outcomes and main discussion points of the workshop.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 681-691 |
| Number of pages | 11 |
| Journal | Mechanisms of Ageing and Development |
| Volume | 129 |
| Issue number | 11 |
| DOIs | |
| State | Published - Nov 2008 |
| Externally published | Yes |
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Keywords
- Aging
- Cancer
- Crossing over
- DNA replication
- Genomic instability
- Holliday junction resolution
- Homologous recombination
ASJC Scopus subject areas
- Aging
- Developmental Biology
Cite this
Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases. / Ellis, Nathan; Sander, Miriam; Harris, Curtis C.; Bohr, Vilhelm A.
In: Mechanisms of Ageing and Development, Vol. 129, No. 11, 11.2008, p. 681-691.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases
AU - Ellis, Nathan
AU - Sander, Miriam
AU - Harris, Curtis C.
AU - Bohr, Vilhelm A.
PY - 2008/11
Y1 - 2008/11
N2 - Human cells express five DNA helicases that are paralogs of Escherichia coli RecQ and which constitute the family of human RecQ helicases. Disease-causing mutations in three of these five human DNA helicases, BLM, WRN, and RECQL4, cause rare severe human genetic diseases with distinct clinical phenotypes characterized by developmental defects, skin abnormalities, genomic instability, and cancer susceptibility. Although biochemical and genetic evidence support roles for all five human RecQ helicases in DNA replication, DNA recombination, and the biological responses to DNA damage, many questions concerning the various functions of the human RecQ helicases remain unanswered. Researchers investigating human and non-human RecQ helicases held a workshop on May 27-28, 2008, at the University of Chicago Gleacher Center, during which they shared insights, discussed recent progress in understanding the biochemistry, biology, and genetics of the RecQ helicases, and developed research strategies that might lead to therapeutic approaches to the human diseases that result from mutations in RecQ helicase genes. Some workshop sessions were held jointly with members of a recently formed advocacy and support group for persons with Bloom's syndrome and their families. This report describes the outcomes and main discussion points of the workshop.
AB - Human cells express five DNA helicases that are paralogs of Escherichia coli RecQ and which constitute the family of human RecQ helicases. Disease-causing mutations in three of these five human DNA helicases, BLM, WRN, and RECQL4, cause rare severe human genetic diseases with distinct clinical phenotypes characterized by developmental defects, skin abnormalities, genomic instability, and cancer susceptibility. Although biochemical and genetic evidence support roles for all five human RecQ helicases in DNA replication, DNA recombination, and the biological responses to DNA damage, many questions concerning the various functions of the human RecQ helicases remain unanswered. Researchers investigating human and non-human RecQ helicases held a workshop on May 27-28, 2008, at the University of Chicago Gleacher Center, during which they shared insights, discussed recent progress in understanding the biochemistry, biology, and genetics of the RecQ helicases, and developed research strategies that might lead to therapeutic approaches to the human diseases that result from mutations in RecQ helicase genes. Some workshop sessions were held jointly with members of a recently formed advocacy and support group for persons with Bloom's syndrome and their families. This report describes the outcomes and main discussion points of the workshop.
KW - Aging
KW - Cancer
KW - Crossing over
KW - DNA replication
KW - Genomic instability
KW - Holliday junction resolution
KW - Homologous recombination
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UR - http://www.scopus.com/inward/citedby.url?scp=56849086801&partnerID=8YFLogxK
U2 - 10.1016/j.mad.2008.09.005
DO - 10.1016/j.mad.2008.09.005
M3 - Article
VL - 129
SP - 681
EP - 691
JO - Mechanisms of Ageing and Development
JF - Mechanisms of Ageing and Development
SN - 0047-6374
IS - 11
ER -