Featured Research

from universities, journals, and other organizations

UT Southwestern Researchers Define Regions Of Human Genes Highly Prone To Mutation

Date:
July 15, 2003
Source:
University Of Texas Southwestern Medical Center At Dallas
Summary:
UT Southwestern Medical Center at Dallas researchers have taken the first step in defining the sites in human genes most prone to mutation, which eventually could lead to discovery of the genetic bases of many human diseases.

DALLAS – July 14, 2003 – UT Southwestern Medical Center at Dallas researchers have taken the first step in defining the sites in human genes most prone to mutation, which eventually could lead to discovery of the genetic bases of many human diseases.

Their work will appear in an upcoming issue of the journal Gene and is currently available online.

Dr. Harold "Skip" Garner, professor of biochemistry and internal medicine, and his colleagues made their discovery while mining databases of coding single nucleotide polymorphisms (cSNPs) held by the National Center for Biotechnology Information, the SNP Consortium, the National Cancer Institute and the Institute of Medical Genetics at Cardiff, Wales. Single nucleotide polymorphisms (SNPs) are the most common and simplest form of genetic mutation in the human genome.

In their analysis, the researchers showed that a large fraction of human cSNPs occur at only a few distinctive and usually recurrent DNA sequence patterns. However, such events within the genome account for a disproportionate amount of all gene point mutations.

Developing an association between phenotype (the outward, physical manifestation) and genotype (the internally coded, inheritable information) is vital toward understanding and identifying indications of disease.

"This discovery can be used to essentially define the likelihood of one gene to mutate relative to others as a function of both time and environment," said Monica M. Horvath, molecular biophysics graduate student and co-author. "cSNP trends are critical to quantify in order to develop hypotheses regarding the complexity and range of mutational mechanisms that generate both genome diversity and disease."

The next phase, Ms. Horvath said, is to employ both experimental and computational tests to benchmark how well these trends can predict mutations not yet found in the human genome.

"What I like the most about this work is that it shows that as proteins evolve, natural selection has considerable latitude, not only in determining the amino acid sequence of a protein, but also in determining how frequently and severely to break it," said John W. Fondon III, molecular biophysics graduate student and contributing author.

"What Ms. Horvath has done is to essentially crack the code within the code – to reveal how selection exploits redundancy within the genetic code to specify whether a particular amino acid letter in a protein is written in stone, with ink, or in wet sand at low tide."

An important application of this research is that with enhanced knowledge of where mutations are most likely to occur, medical geneticists can take more aggressive approaches to discover the genetic basis of many human diseases.

"We know the genome is very big, and there currently is no technology to remeasure every single letter of this 3-billion-letter code," said Dr. Garner.

"A very significant byproduct of this research into the complex interplay between mutation and selection is that Ms. Horvath has revealed some clear rules that can contribute to the design and execution of genetic association studies. This will become an important component of the solution to the currently intractable problems presented by complex diseases that involve many genes."

The research was supported by a National Institute of Health grant, Program in Genomic Applications grant, the Biological Chemical Countermeasures program of The University of Texas and the state of Texas Advanced Technology Program.


Story Source:

The above story is based on materials provided by University Of Texas Southwestern Medical Center At Dallas. Note: Materials may be edited for content and length.


Cite This Page:

University Of Texas Southwestern Medical Center At Dallas. "UT Southwestern Researchers Define Regions Of Human Genes Highly Prone To Mutation." ScienceDaily. ScienceDaily, 15 July 2003. <www.sciencedaily.com/releases/2003/07/030715090420.htm>.
University Of Texas Southwestern Medical Center At Dallas. (2003, July 15). UT Southwestern Researchers Define Regions Of Human Genes Highly Prone To Mutation. ScienceDaily. Retrieved July 29, 2014 from www.sciencedaily.com/releases/2003/07/030715090420.htm
University Of Texas Southwestern Medical Center At Dallas. "UT Southwestern Researchers Define Regions Of Human Genes Highly Prone To Mutation." ScienceDaily. www.sciencedaily.com/releases/2003/07/030715090420.htm (accessed July 29, 2014).

Share This




More Health & Medicine News

Tuesday, July 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Generics Eat Into Pfizer's Sales

Generics Eat Into Pfizer's Sales

Reuters - Business Video Online (July 29, 2014) Pfizer, the world's largest drug maker, cut full-year revenue forecasts because generics could cut into sales of its anti-arthritis drug, Celebrex. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Nigeria Ups Ebola Stakes on 1st Death

Nigeria Ups Ebola Stakes on 1st Death

Reuters - Business Video Online (July 29, 2014) Nigerian authorities have shut and quarantined a Lagos hospital where a Liberian man died of the Ebola virus, the first recorded case of the highly-infectious disease in Africa's most populous economy. David Pollard reports Video provided by Reuters
Powered by NewsLook.com
Running 5 Minutes A Day Might Add Years To Your Life

Running 5 Minutes A Day Might Add Years To Your Life

Newsy (July 29, 2014) According to a new study, just five minutes of running or jogging a day could add years to your life. Video provided by Newsy
Powered by NewsLook.com
Ebola Outbreak Poses Little Threat To U.S.: CDC

Ebola Outbreak Poses Little Threat To U.S.: CDC

Newsy (July 29, 2014) The Ebola outbreak in West Africa poses little threat to Americans, according to officials with the Centers for Disease Control and Prevention. 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