Genomics: Digital DNA

Summary of newsworhty papers: Genomics: Digital DNA; Genetics: The genetics of impulsivity; Genomes: Functional elements on the fly


This press release is copyright Nature.

VOL.468 NO.7327 DATED 23 DECEMBER 2010

This press release contains:

• Summaries of newsworthy papers:

Genomics: Digital DNA

Genetics: The genetics of impulsivity

Genomes: Functional elements on the fly

• Mention of papers to be published at the same time with the same embargo

• Geographical listing of authors

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[1] Genomics: Digital DNA (pp 1053-1060; N&V)

The nuclear genome of an ancient hominin from southern Siberia has been sequenced using DNA extracted from a finger bone. The results are published this week in Nature and provide evidence of no gene flow between these hominins and Eurasians, although the group contributed 4-6% of its genetic material to the genomes of present-day Melanesians.

The bone, found in Denisova Cave, had previously had its mitochondrial sequence published. Mitochondrial DNA is maternally inherited as a single unit without recombination, and therefore is subject to chance events such as genetic drift, as well as gene flow and positive selection. David Reich, Svante Pääbo and colleagues sequenced the nuclear genome, which comprises tens of thousands of unlinked, mostly neutrally evolving loci. This allows for analyses of genetic relationships that are robust to the randomness of genetic drift, and are much less affected by positive selection.

The group to which this individual belonged shares a common origin with Neanderthals. A tooth that was also found in Denisova Cave has a similar mitochondrial genome to that of the finger bone and a morphology very different from that of Neanderthals and modern humans, indicating that the Denisova hominins are an evolutionarily distinct group.


David Reich (Harvard Medical School, Boston, MA, USA)

Tel: +1 617 432 6548; E-mail: [email protected]

Svante Pääbo (Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany)

Tel: +49 173 355 1938; E-mail: [email protected]

Carlos Bustamante (Stanford University, CA, USA) N&V author

Tel: +1 650 723 6361; E-mail: [email protected]

[2] Genetics: The genetics of impulsivity (pp 1061-1066; N&V)

A mutation that may predispose towards severe impulsive behaviour is revealed in this week’s Nature. However, the authors of the study caution that carrying the mutation is not sufficient to cause impulsive behaviour nor predictive of it.

The mutation, which lies within the serotonin receptor gene HTR2B, was discovered by sequencing and comparing DNA from severely impulsive Finnish criminal offenders and matched controls. The mutation occurs more frequently among violent offenders than controls. David Goldman and colleagues also report that it is common and apparently exclusive to Finns.

The team also show that mice lacking the gene act impulsively. But they caution that genetics is one factor in a complicated puzzle of predisposing factors that probably includes gender, stress levels and alcohol consumption.


David Goldman (National Institute on Alcohol Abuse and Alcoholism, Rockville, MD, USA)

Tel: +1 301 443 0059; E-mail: [email protected]

John Kelsoe (University of California, San Diego, CA, USA) N&V author

Tel: +1 858 534 5927; E-mail: [email protected]

[3] & [4] Genomes: Functional elements on the fly (AOP)
DOI: 10.1038/nature09725
DOI: 10.1038/nature09715

These papers will be published electronically on Nature's website on 22 December at 1800 London time / 1300 US Eastern Time as part of our AOP (ahead of print) programme. Although we have included them on this release to avoid multiple mailings they will not appear in print on 23 December, but at a later date.

Large-scale functional genomic analyses of the fruitfly are reported this week in two Nature papers. The studies, which are part of the modENCODE initiative, considerably expand the number of known ‘building blocks’ that constitute a fly.

The fruitfly (Drosophila melanogaster) is one of the most well-studied genetic model organisms, but a full map of the chromatin and transcript structures is necessary to understand important biological functions, such as transcription regulation, splicing and RNA editing.

Peter Kharchenko, Peter Park, Gary Karpen and colleagues present a genome-wide chromatin map of the fruitfly based on 18 histone modifications, summarized by nine combinatorial patterns of chromatin. This systematic characterization of the transcriptional properties of fruitfly cells has great potential for the identification of functional elements in both well-studied and new genomes.

A second team, led by Brenton Graveley, Susan Celniker and colleagues use sequencing techniques to explore the transcriptome at 30 distinct stages of fruitfly development. They report thousands of new genes, coding and non-coding transcripts and splice junctions, providing a useful resource for the study of fruitfly biology and development.


Peter Park (Harvard Medical School, Boston, MA, USA) Author paper [3]

Tel: +1 617 432 7373; E-mail: [email protected]

Gary Karpen (Lawrence Berkeley National Laboratory and University of California, Berkeley, CA, USA) Author paper [3]

Tel: +1 510 486 5034; E-mail: [email protected]

Brenton Graveley (University of Connecticut, Farmington, CT, USA) Author paper [4]

Tel: +1 860 679 2090; E-mail: [email protected]

Susan Celniker (Lawrence Berkeley National Laboratory and University of California, Berkeley, CA, USA) Author paper [4]

Tel: +1 510 486 6258; E-mail: [email protected]

Please note:

This relates to two papers in the Science press package: “Integrative analysis of the Caenorhabditis elegans genome by the modENCODE Project" by M.B. Gerstein et al. (DOI: 10.1126/science.1196914); and "Identification of functional elements and regulatory circuits by
Drosophila modENCODE" by The modENCODE Consortium et al. (DOI: 10.1126/science.1198374).

Journalists can find a copy of these papers at and should contact [email protected] or +1 202 326 6440 for further information. After the embargo lifts, these papers can be found at:


The following list of places refers to the whereabouts of authors on the papers numbered in this release. For example, London: 4 – this means that on paper number four, there will be at least one author affiliated to an institute or company in London. The listing may be for an author's main affiliation, or for a place where they are working temporarily. Please see the PDF of the paper for full details.

Vancouver: 1

Beijing: 1

Helsinki: 2
Kellokoski: 2

Paris: 2

Leipzig: 1
Tübingen: 1

Pisa: 2

Novosibirsk: 1

Barcelona: 1

Umea: 3


Berkeley: 1, 3, 4
Foster City: 4
Santa Clara: 4
Santa Cruz: 1, 4
South San Francisco: 4

Farmington: 4

Atlanta: 1

Chicago: 2

Bloomington: 2, 4

Kansas City: 4

Rockville: 2

Boston: 1, 3, 4
Cambridge: 1, 3

Kansas City: 4
St Louis: 3, 4

Missoula: 1

New Jersey
New Brunswick: 3
Piscataway: 3

New York
Cold Spring Harbor: 4

North Carolina
Durham: 3

Scranton: 3

Rhode Island
Providence; 3

Seattle: 1, 3


From North America and Canada

Neda Afsarmanesh, Nature New York

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From Japan, Korea, China, Singapore and Taiwan

Mika Nakano, Nature Tokyo

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From the UK

Rebecca Walton, Nature, London

Tel: +44 20 7843 4502; E-mail: [email protected]

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Published: 22 Dec 2010

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