Navigation Links
Trisomy 21: How an extra little chromosome throws the entire genome off balance
Date:4/17/2014

Occurring in about one per eight hundred births, Down syndrome - or trisomy 21 - is the most frequent genetic cause of intellectual disability. It results from a chromosomal abnormality where cells of affected individuals contain a third copy of chromosome 21 (1% of the human genome). A study conducted by Stylianos Antonarakis and his team in the Department of Genetic Medicine and Development at the University of Geneva (UNIGE) Faculty of Medicine, published in Nature, shed light on how the extra chromosome 21 upsets the equilibrium of the entire genome, causing a wide variety of pathologies.

Despite much research, the exact mechanisms causing the various symptoms associated with Down syndrome remain a mystery. According to a hypothesis called gene dosage disequilibrium, the presence of a third chromosome 21 could influence the expression of all the other genes in the genome. That is, this extra genetic material could disrupt the process through which information carried in the genes is decoded, therefore modifying the cellular function.

Based on this hypothesis, several research groups have tried, so far without success, to identify changes in gene expression within trisomic cells and link them with symptoms seen in patients. However, as the level of most gene expression varies from one person to another, it is extremely difficult to discriminate between changes exclusively linked to trisomy 21 and those due to natural variation between individuals.

Comparing Identical Twins

At UNIGE, Stylianos Antonarakis's team has the unique opportunity to examine the genomes of two identical twins with the exact same genetic makeup, except for an extra chromosome 21 present in one of them. Indeed, the chromosome 21 distribution error can take place during an early cellular division, after the original fertilized egg splits in two.

To compare gene expression levels between the twins, UNIGE researchers used recent, high-throu
'/>"/>

Contact: Stylianos Antonarakis
stylianos.antonarakis@unige.ch
41-223-795-708
Universit de Genve
Source:Eurekalert  

Page: 1 2 3

Related biology news :

1. Complex genetic architectures: Some common symptoms of trisomy 21
2. Plant extract offers hope for infant motor neuron therapy
3. Garcinia Cambogia Extract Review Company Garcinia Ex Announces the Launch of its Updated Website
4. A magnetic nanoparticles-based method for DNA extraction from the saliva after stroke
5. Wayne State cholesterol study shows algal extracts may counter effects of high fat diets
6. A universal RNA extraction protocol for land plants
7. Tailored methane measurement services are to be developed for shale gas extraction, municipal waste
8. Study investigates extraordinary trout with tolerance to heavily polluted water
9. Herbal extract boosts fruit fly lifespan by nearly 25 percent, UCI study finds
10. Quit smoking? Vitamin E may give extra boost to heart health
11. Scientists decode genome of painted turtle, revealing clues to extraordinary adaptations
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Trisomy 21: How an extra little  chromosome throws the  entire genome off balance
(Date:8/21/2014)... published in the journal Carcinogenesis by researchers ... for the protein adenomatous polyposis coli (APC) in suppressing ... in the U.S. , Lead author Kristi Neufeld, associate ... of the Cancer Biology program at the KU Cancer ... trying to understand the various activities of APC, a ...
(Date:8/21/2014)... in severe abdominal pain, vomiting and systemic inflammation. Every ... with the disease resulting in 1000 deaths. There is ... fluid and nutritional support. , Dr Jason Bruce, ... research, said "The major causes of pancreatitis include bile ... combined with a high fat diet. In fact, the ...
(Date:8/20/2014)... 2014 /CNW/ -  Issue Serious allergic ... become life threatening for some children.    What ... Canadians have food allergies and this number may be increasing, ... are estimated to have food allergies.  The ... and hives to breathing difficulties and loss of consciousness. Symptoms ...
Breaking Biology News(10 mins):Research offers insight into cellular biology of colorectal cancer 2Research offers insight into cellular biology of colorectal cancer 3Insulin offers new hope for the treatment of acute pancreatitis 2Information Update - Allergens and food safety at school - What's in your child's lunch? 2Information Update - Allergens and food safety at school - What's in your child's lunch? 3
... in six will get prostate cancer during his lifetime, making ... a new partnership with Areva Med, UC researchers will investigate ... of prostate cancer tumors. In the study, UC researchers ... efficacy of a new agent targeted against a specific protein ...
... researchers from the Johns Hopkins University School of Medicine ... by European scientific institutions. Andrew P. Feinberg, M.D., ... of the Center for Epigenetics, will receive the honorary ... ceremony in the Stockholm City Hall on May 7. ...
... Researchers in China are reporting that they have found a ... cells -- that have been reprogrammed into a primordial, embryonic-like ... a paper published online last week by the Journal ... the Chinese Academy of Sciences point to a marker they ...
Cached Biology News:UC to test targeted treatment for prostate cancer 22 Hopkins scientists awarded European honorary doctorates 2Chinese scientists discover marker indicating the developmental potential of stem cells 2
(Date:8/20/2014)... , Aug. 20, 2014 Clintrax ... services located in Raleigh, NC ... Evans as Vice President of Administration. ... will oversee all corporate processes, including their alignment ... Clintrax Global, Brad worked as an HR executive, ...
(Date:8/20/2014)... Livermore, California (PRWEB) August 20, 2014 ... to develop and apply the most complete climate ... challenging and demanding climate change issues. , Eight ... combining forces with the National Center for Atmospheric ... in the new effort. Other participating national laboratories ...
(Date:8/20/2014)... Calif. , Aug. 20, 2014 /PRNewswire-iReach/ -- ... the transformative collaboration between the school,s bioengineering department ... part of the Intel® Software Academic Program, UCSD,s ... sciences and the human body.  ... The study exhibits the work of Dr. ...
(Date:8/19/2014)... August 19, 2014 Shimadzu Scientific ... systems, Prominence-i and Nexera-i, adding to the company’s ... excellent functionality, an intuitive operating environment, and full ... more efficient workflow for conventional to ultra-high-speed analysis. ... intuitive and intelligent design so users can begin ...
Breaking Biology Technology:Clintrax Global, Inc. Announces Addition to Executive Team 2New Project Is the ACME of Addressing Climate Change 2New Project Is the ACME of Addressing Climate Change 3Intel and University of San Diego Bioengineering Department Release Case Study on Health Sciences Research 2Shimadzu’s New i-Series Integrated Liquid Chromatography Systems Provide Laboratories Wider Range of Analytical Capabilities 2Shimadzu’s New i-Series Integrated Liquid Chromatography Systems Provide Laboratories Wider Range of Analytical Capabilities 3
... Roche (SWX: ROG.VX; RO.S; OTCQX; RHHBY) today announced that ... accepted for payment all shares validly tendered and not ... shares of common stock of Memory Pharmaceuticals Corp. (Nasdaq: ... cash.As of the expiration of the tender offer, a ...
... Inc.,(Nasdaq: BNVI ) announced today results ... to identify estrogenic drugs that are,safer. The data, ... new regulatory elements can distinguish the estrogenic,pharmacological activity ... prediction of specific tissue effect. , ...
... CHICAGO, Dec. 31 A landmark study published today ... that use of a specially-designed machine to store kidneys ... function when compared to those stored in a traditional ... the LifePort(R) Kidney Transporter monitors the temperature and vascular ...
Cached Biology Technology:Roche Purchases Shares in Tender Offer For Memory Pharmaceuticals Corp. 2Roche Purchases Shares in Tender Offer For Memory Pharmaceuticals Corp. 3Roche Purchases Shares in Tender Offer For Memory Pharmaceuticals Corp. 4Bionovo Publishes Discoveries in Predictable Tissue Selectivity for Selective Estrogen Receptor Modulators Platform 2Bionovo Publishes Discoveries in Predictable Tissue Selectivity for Selective Estrogen Receptor Modulators Platform 3Study Shows Machine Perfusion Significantly Improves Transplant Results 2Study Shows Machine Perfusion Significantly Improves Transplant Results 3
... Taq DNA Polymerase is a thermostable recombinant ... in primer extension and other molecular biology ... which provides easy and quick identification of ... allows confirmation of complete mixing. The inert ...
... The EnzChek Lysozyme Assay Kit (E-22013) ... measure levels of lysozyme,activity in solution. ... down to 20 U/mL (Figure 1). ... lysodeikticus cell,walls, which are labeled to ...
RNA oligomers from 10 to 50 bases purified by PAGE and MS-checked. RNAs are supplied dried and fully deprotected....
... (Cap Analog) is used for the synthesis ... vitro transcription reactions. Substitution of cap analog ... in an in vitro transcription reaction results ... into a large fraction of the transcripts. ...
Biology Products: