Navigation Links
Tiny genetic differences have huge consequences: McGill researchers

This release is available in French.

A study led by McGill University researchers has demonstrated that small differences between individuals at the DNA level can lead to dramatic differences in the way genes produce proteins. These, in turn, are responsible for the vast array of differences in physical characteristics between individuals. The study, part of the Genome Regulators in Disease (GRID) Project funded by Genome Canada and Genome Quebec, was led by Dr. Jacek Majewski of McGill Universitys Department of Human Genetics and the McGill University and Genome Quebec Innovation Centre, and first-authored by his research associate Dr. Tony Kwan. It was published January 13 in the journal Nature Genetics.

The study was originally initiated by Dr. Tom Hudson, former director of the McGill University and Genome Quebec Innovation Centre, and drew upon the data collected by the vast HapMap (Haplotype Map) Project, a global comparative map of the human genome, which Hudson and his colleagues were instrumental in completing.

This study solves in part the mystery of how a relatively small number of differences within DNA protein coding sequences could be responsible for the enormous variety of phenotypic differences between individuals. It had previously been shown that individual differences reside in simple, relatively small variations in the DNA sequence called single nucleotide polymorphisms (SNPs, often pronounced snips), which exist primarily in the junk code of the DNA not previously known to have any profound genetic effect.

There are many SNPs, explained Dr. Majewski. If you add them all together, you'd expect that two individuals would differ at more than a million of those positions. So we have a million or more small differences that distinguish you and me, and yet it would be very hard to explain all the phenotypic differences in the way we look, grow, and behave just by the handful of these protein coding differences.

Majewski and his colleagues have demonstrated that the natural processing of messenger RNA (mRNA), via a process called splicing, is genetically controlled by these SNPs. The SNPs in certain individuals lead to changes in splicing and result in the production of drastically altered forms of the protein. These out-of-proportion consequences may lead to the development of genetic diseases such as cystic fibrosis and Type 1 diabetes.


Contact: Mark Shainblum
McGill University

Related biology news :

1. Genetic Alliance names Genetic Testing as its official journal
2. Should children be permitted to get genetic testing for BRCA 1/2 mutations?
3. Genetically modified carrots provide more calcium
4. UBC discovery unlocks tree genetics, gives new hope for pine beetle defense
5. New method developed to identify genetic determinants of Alzheimers disease
6. Study suggests genetic connection between short stature and arthritis
7. New genetic variants associated with lipid levels, risk for coronary artery disease
8. Scientists associate 6 new genetic variants with heart disease risk factor
9. Dissecting the genetic components of adaptation of E. coli to the mouse gut
10. Researchers move 2 steps closer to understanding genetic underpinnings of autism
11. Genetic breakthrough offers promise in tackling kidney tumors
Post Your Comments:
(Date:10/6/2015)... MATEO, Calif. , Oct. 6, 2015 /PRNewswire/ ... company, today announced enhancements to its software portfolio ... expression analysis kit for differential expression in eukaryotes. ... Platform, which is a cloud-based genomic analysis solution ... advance scientific discovery from next-generation sequencing efforts. ...
(Date:9/30/2015)... SACRAMENTO, Calif. , Sept. 30, 2015  With ... and the number of new SCIs estimated to reach ... like Southern California Resource Services for Independent Living ... 28 ILCs in California opening ... a range of programs and services, notably assistive technology ...
(Date:9/29/2015)... , Sept. 29, 2015  iDAvatars is excited to be ... its product to market. The official announcement was recently made ... event in San Francisco , where ... powered by IBM Watson. "It is both an ... 100 companies to bring to market the cognitive power of ...
Breaking Biology News(10 mins):
(Date:10/13/2015)... and TORONTO , Oct. 13, 2015 ... announced that it has entered into a non-binding Letter of ... private Israeli company that has developed a proprietary cooling technology ... to varicoceles. the United States ... between the ages of 25 and 44 diagnosed as infertile.  ...
(Date:10/13/2015)... ... October 13, 2015 , ... Clinovo recently appointed Jeff Parr and Ed ... growing clinical data solutions business. , Jeff Parr has spent the past decade providing ... Avery Dennison, Thermo Fisher, and Ab Sciex to name a few. He is ...
(Date:10/13/2015)... ... ... Proove Biosciences, a commercial and research leader ... Medicine of the University of Southern California (USC) Pain Center to study ... Clinical Objectives Linking Genotypic and Phenotypic Association with Pain Outcomes) is one of ...
(Date:10/13/2015)... the United States , Canada ... 14% of all new cases of kidney cancer.   --> ... and Europe .  PRCC represents about 14% ... Hutchison China MediTech Limited ("Chi-Med") (AIM: HCM) today announces that Hutchison ... ("AstraZeneca") have completed enrolment in a global Phase II study of ...
Breaking Biology Technology: