| Title |
Genetic Variation in Human DNA Replication Timing
|
|---|---|
| Published in |
Cell, November 2014
|
| DOI | 10.1016/j.cell.2014.10.025 |
| Pubmed ID | |
| Authors |
Amnon Koren, Robert E. Handsaker, Nolan Kamitaki, Rosa Karlić, Sulagna Ghosh, Paz Polak, Kevin Eggan, Steven A. McCarroll |
| Abstract |
Genomic DNA replicates in a choreographed temporal order that impacts the distribution of mutations along the genome. We show here that DNA replication timing is shaped by genetic polymorphisms that act in cis upon megabase-scale DNA segments. In genome sequences from proliferating cells, read depth along chromosomes reflected DNA replication activity in those cells. We used this relationship to analyze variation in replication timing among 161 individuals sequenced by the 1000 Genomes Project. Genome-wide association of replication timing with genetic variation identified 16 loci at which inherited alleles associate with replication timing. We call these "replication timing quantitative trait loci" (rtQTLs). rtQTLs involved the differential use of replication origins, exhibited allele-specific effects on replication timing, and associated with gene expression variation at megabase scales. Our results show replication timing to be shaped by genetic polymorphism and identify a means by which inherited polymorphism regulates the mutability of nearby sequences. |
X Demographics
The data shown below were collected from the profiles of 83 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 27 | 33% |
| United Kingdom | 6 | 7% |
| France | 5 | 6% |
| Spain | 5 | 6% |
| Germany | 3 | 4% |
| Sweden | 2 | 2% |
| Hungary | 1 | 1% |
| Brazil | 1 | 1% |
| Israel | 1 | 1% |
| Other | 5 | 6% |
| Unknown | 27 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 41 | 49% |
| Members of the public | 39 | 47% |
| Practitioners (doctors, other healthcare professionals) | 2 | 2% |
| Science communicators (journalists, bloggers, editors) | 1 | 1% |
Mendeley readers
The data shown below were compiled from readership statistics for 369 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 11 | 3% |
| Korea, Republic of | 3 | <1% |
| United Kingdom | 2 | <1% |
| Norway | 1 | <1% |
| France | 1 | <1% |
| Netherlands | 1 | <1% |
| Germany | 1 | <1% |
| Lithuania | 1 | <1% |
| Sweden | 1 | <1% |
| Other | 5 | 1% |
| Unknown | 342 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 105 | 28% |
| Researcher | 86 | 23% |
| Student > Master | 28 | 8% |
| Student > Bachelor | 24 | 7% |
| Professor | 20 | 5% |
| Other | 63 | 17% |
| Unknown | 43 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 159 | 43% |
| Biochemistry, Genetics and Molecular Biology | 108 | 29% |
| Medicine and Dentistry | 22 | 6% |
| Computer Science | 11 | 3% |
| Neuroscience | 3 | <1% |
| Other | 19 | 5% |
| Unknown | 47 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 58. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 25 July 2019.
All research outputs
#744,607
of 25,793,330 outputs
Outputs from Cell
#3,225
of 17,292 outputs
Outputs of similar age
#7,923
of 271,439 outputs
Outputs of similar age from Cell
#48
of 153 outputs
Altmetric has tracked 25,793,330 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
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