Title |
Deletions of chromosomal regulatory boundaries are associated with congenital disease
|
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Published in |
Genome Biology, September 2014
|
DOI | 10.1186/s13059-014-0423-1 |
Pubmed ID | |
Authors |
Jonas Ibn-Salem, Sebastian Köhler, Michael I Love, Ho-Ryun Chung, Ni Huang, Matthew E Hurles, Melissa Haendel, Nicole L Washington, Damian Smedley, Christopher J Mungall, Suzanna E Lewis, Claus-Eric Ott, Sebastian Bauer, Paul N Schofield, Stefan Mundlos, Malte Spielmann, Peter N Robinson |
Abstract |
Recent data from genome-wide chromosome conformation capture analysis indicate that the human genome is divided into conserved megabase-sized self-interacting regions called topological domains. These topological domains form the regulatory backbone of the genome and are separated by regulatory boundary elements or barriers. Copy-number variations can potentially alter the topological domain architecture by deleting or duplicating the barriers and thereby allowing enhancers from neighboring domains to ectopically activate genes causing misexpression and disease, a mutational mechanism that has recently been termed enhancer adoption. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 6 | 26% |
Germany | 4 | 17% |
France | 2 | 9% |
Australia | 1 | 4% |
Belgium | 1 | 4% |
Canada | 1 | 4% |
Unknown | 8 | 35% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 15 | 65% |
Members of the public | 7 | 30% |
Science communicators (journalists, bloggers, editors) | 1 | 4% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 1% |
United Kingdom | 2 | <1% |
Germany | 1 | <1% |
Switzerland | 1 | <1% |
South Africa | 1 | <1% |
Hungary | 1 | <1% |
Canada | 1 | <1% |
Italy | 1 | <1% |
Unknown | 190 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 55 | 27% |
Researcher | 40 | 20% |
Student > Bachelor | 20 | 10% |
Student > Master | 18 | 9% |
Professor | 9 | 4% |
Other | 25 | 12% |
Unknown | 34 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 69 | 34% |
Agricultural and Biological Sciences | 66 | 33% |
Medicine and Dentistry | 12 | 6% |
Computer Science | 7 | 3% |
Engineering | 3 | 1% |
Other | 7 | 3% |
Unknown | 37 | 18% |