HOME >> BIOLOGY >> NEWS
Cataloging the structural variations in human genetics

A major new effort to uncover the medium- and large-scale genetic differences between humans may soon reveal DNA sequences that contribute to a wide range of diseases, according to a paper by Howard Hughes Medical Institute investigator Evan Eichler and 17 colleagues published in the May 10, 2007, Nature. The undertaking will help researchers identify structural variations in DNA sequences, which Eichler says amount to as much as five to ten percent of the human genome.

Past studies of human genetic differences usually have focused on the individual "letters or bases of a DNA sequence. But the genetic differences between humans amount to more than simple spelling errors. "Structural changes -- insertions, duplications, deletions, and inversions of DNA -- are extremely common in the human population, says Eichler. "In fact, more bases are involved in structural changes in the genome than are involved in single-base-pair changes.

In some cases, individual genes appear in multiple copies because of duplications of DNA segments. In other cases, segments of DNA appear in some people but not others, which means that the "reference human genome produced by the Human Genome Project is incomplete. "Were finding new sequence in the human genome that is not in the reference sequence, Eichler says.

These structural changes can influence both disease susceptibility and the normal functioning and appearance of the body. Color-blindness, increased risk of prostate cancer, and susceptibility to some forms of cardiovascular disease result from deletions of particular genes or parts of genes. Extra copies of a gene known as CC3L1 reduce a persons susceptibility to HIV infection and progression to AIDS. Lower than normal quantities of other genes can lead to intestinal or kidney diseases.

Variation in the number of genes or in gene regulation caused by structural rearrangements may also contribute to more common diseases. "The million dol
'"/>

Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
9-May-2007


Page: 1 2 3

Related biology news :

1. BCM, Rice make major advance in structural biology
2. Scripps research study reveals structural dynamics of single prion molecules
3. New technology used to construct the first map of structural variation in the human genome
4. Study details structural changes of a key catalytic enzyme
5. Researchers image molecular motor structural changes
6. A new window into structural plasticity in the adult visual cortex
7. Columbia University awards 2005 Horwitz Prize to Israeli structural biologist
8. Conserved amino acids play both structural and mechanistic roles in sandwich-like protein
9. Gene variations directly link inflammation to an increased risk for lung cancer
10. Fever after smallpox vaccination tied to individual genetic variations
11. Study fails to verify gene variations as risk factors for certain cardiovascular problems

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:8/12/2020)... , ... August 12, 2020 , ... ... monitoring systems that are ideal for public health agencies of all sizes. With ... diseases and helping at-risk individuals find appropriate health care, Mosio helps public health ...
(Date:8/3/2020)... , ... August 03, 2020 , ... ... announced a new partnership with medical equipment manufacturer, Spectrum Solutions, to provide COVID-19 ... to strengthen their laboratory supply chain for more than 10 years. Early in ...
(Date:7/18/2020)... ANTONIO (PRWEB) , ... July 16, 2020 , ... ... ONE that demonstrates the effectiveness of the Invictus Medical Neoasis™ active noise control ... environment. The study reported that the Neoasis™ device attenuated the alarm sounds from ...
Breaking Biology News(10 mins):
(Date:8/3/2020)... , ... August 03, 2020 , ... ... today announced Jim Corrigan, President and CEO has been named one of the ... cross-section of industry sectors, PharmaVoice 100 honorees are selected based on how they ...
(Date:7/31/2020)... (PRWEB) , ... July 29, 2020 , ... ... that can combine up to three different materials for use with CRM, neurostimulation, ... up to three materials to meet specific design requirements, performance, and cost criteria; ...
(Date:7/22/2020)... , ... July 22, 2020 , ... Join experts from ... Lorenc, Sr. Manager Regulatory Solutions, in a one hour live webinar on ... regulating body in China for drugs and medical devices. Specifically, for medical devices, the ...
(Date:7/10/2020)... ... July 08, 2020 , ... Bode Technology, ... expansion of laboratory operations through its COVID-19 testing service, Bode-CARES . Bode-CARES ... , Bode-CARES provides a turnkey solution that includes a comprehensive collection ...
Breaking Biology Technology:
Cached News: