Featured Research

from universities, journals, and other organizations

Researchers Uncover Surprising Degree Of Large-scale Variation In The Human Genome

Date:
July 23, 2004
Source:
Cold Spring Harbor Laboratory
Summary:
A new study by Michael Wigler's group at Cold Spring Harbor Laboratory has revealed surprising differences in the DNA of normal cells from different people.

A new study by Michael Wigler's group at Cold Spring Harbor Laboratory has revealed surprising differences in the DNA of normal cells from different people.

Related Articles


The study, which appears this week in the journal Science, used a powerful new DNA profiling technique, originally developed by Wigler's group, called ROMA (representational oligonucleotide microarray analysis). The technique was initially developed to detect the genetic differences between normal cells and cancer cells. This application of ROMA has revealed several chromosomal amplifications (excess copies of DNA segments) and deletions (missing DNA segments) associated with a variety of human cancers in individual patients (see http://www.cshl.edu/public/releases/revealing.html ).

However, in the course of that work, the researchers were greatly surprised to have detected several large-scale, previously unidentified differences in human DNA when they carried out "normal to normal" control comparisons of DNA from different individuals.

In the new study, Wigler's group created an extensive profile of such genetic variation in normal human DNA. The researchers sampled blood and multiple tissues from 20 individuals from a variety of geographic backgrounds. Differences in the chromosomal DNA purified from these samples were detected by ROMA.

The researchers detected 76 large-scale "copy number polymorphisms" or CNPs. Among the 70 genes associated with the newly-identified CNPs were those involved in Cohen syndrome and neurological development, and others implicated in leukemia and drug resistant forms of breast cancer. In addition, some CNPs identified genes with known influence on 'normal' human phenotypes including one—neuropeptide-Y4 receptor—that is directly involved in the regulation of food intake and body weight.

According to the study, a relationship between CNPs and susceptibility to health problems such as neurological disease, cancer, and obesity is an intriguing possibility. The study revealed considerable structural variation in the human genome, most of which was not previously apparent by other methods of genomic analysis.

Previous studies by others using different methods had identified only a handful of such large-scale copy number polymorphisms in human DNA. The increased CNP detection frequency in the new study stems from the greater resolving power of the ROMA technology (which currently employs one probe every 35 kb) relative to other methods. Moreover, several features of ROMA result in a signal-to-background ratio superior to that which can be obtained by hybridization of total genomic DNA to an array of BACs. Further refinements of ROMA, which promise to reveal more information about large-scale polymorphisms in the human genome, are underway.

###

Among Wigler's colleagues from Cold Spring Harbor Laboratory, Columbia University, the Broad Institute, the Karolinska Institute, the Fred Hutchinson Cancer Research Center, and Stony Brook University, Jonathan Sebat was the first author of the study.


Story Source:

The above story is based on materials provided by Cold Spring Harbor Laboratory. Note: Materials may be edited for content and length.


Cite This Page:

Cold Spring Harbor Laboratory. "Researchers Uncover Surprising Degree Of Large-scale Variation In The Human Genome." ScienceDaily. ScienceDaily, 23 July 2004. <www.sciencedaily.com/releases/2004/07/040723093056.htm>.
Cold Spring Harbor Laboratory. (2004, July 23). Researchers Uncover Surprising Degree Of Large-scale Variation In The Human Genome. ScienceDaily. Retrieved October 25, 2014 from www.sciencedaily.com/releases/2004/07/040723093056.htm
Cold Spring Harbor Laboratory. "Researchers Uncover Surprising Degree Of Large-scale Variation In The Human Genome." ScienceDaily. www.sciencedaily.com/releases/2004/07/040723093056.htm (accessed October 25, 2014).

Share This



More Health & Medicine News

Saturday, October 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

IKEA Desk Converts From Standing to Sitting With One Button

IKEA Desk Converts From Standing to Sitting With One Button

Buzz60 (Oct. 24, 2014) IKEA is out with a new convertible desk that can convert from a sitting desk to a standing one with just the push of a button. Jen Markham explains. Video provided by Buzz60
Powered by NewsLook.com
Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) Video provided by AP
Powered by NewsLook.com
Doctor in NYC Quarantined With Ebola

Doctor in NYC Quarantined With Ebola

AP (Oct. 24, 2014) An emergency room doctor who recently returned to the city after treating Ebola patients in West Africa has tested positive for the virus. He's quarantined in a hospital. (Oct. 24) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins