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.

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 July 31, 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 July 31, 2014).

Share This




More Health & Medicine News

Thursday, July 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Concern Grows Over Worsening Ebola Crisis

Concern Grows Over Worsening Ebola Crisis

AFP (July 30, 2014) Pan-African airline ASKY has suspended all flights to and from the capitals of Liberia and Sierra Leone amid the worsening Ebola health crisis, which has so far caused 672 deaths in Guinea, Liberia and Sierra Leone. Duration: 00:43 Video provided by AFP
Powered by NewsLook.com
At Least 20 Chikungunya Cases in New Jersey

At Least 20 Chikungunya Cases in New Jersey

AP (July 30, 2014) At least 20 New Jersey residents have tested positive for chikungunya, a mosquito-borne virus that has spread through the Caribbean. (July 30) Video provided by AP
Powered by NewsLook.com
Xtreme Eating: Your Daily Caloric Intake All On One Plate

Xtreme Eating: Your Daily Caloric Intake All On One Plate

Newsy (July 30, 2014) The Center for Science in the Public Interest released its 2014 list of single meals with whopping calorie counts. Video provided by Newsy
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:
from the past week

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