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:3/18/2015)... 2015 As mobile payments become more ... wallets and apps continue to be introduced into the market ... mobile payment industry in focus today are:  NXT-ID, Inc. (NASDAQ: ... BABA ), Apple Inc. (NASDAQ: AAPL ), ... (NASDAQ: FB ) NXT-ID, Inc. (NASDAQ: ...
(Date:3/16/2015)... HANOVER, Germany , March 16, 2015 /PRNewswire/ ... DERMALOG Identification Systems GmbH will present groundbreaking innovations ... Hanover, Germany . ... DERMALOG,s latest biometric innovation is well at ... the next generation e-gate made in ...
(Date:3/12/2015)... MOUNTAIN VIEW, Calif. , March 12, 2015 ... EDTLOCATION:Online, with Complimentary Registration here: http://bit.ly/1G7Os0L . ... Program Manager Aravind SeshagiriPhoto - http://photos.prnewswire.com/prnh/20150311/181111 ... future in order to compete in several different ... the market is currently witnessing an uptrend. ...
Breaking Biology News(10 mins):Revolutionary Smart Wallet & Mobile Payment Choices Change the Game for Consumers - Company Begins Shipping Newest Digital Wallet to Customers 2Revolutionary Smart Wallet & Mobile Payment Choices Change the Game for Consumers - Company Begins Shipping Newest Digital Wallet to Customers 3Revolutionary Smart Wallet & Mobile Payment Choices Change the Game for Consumers - Company Begins Shipping Newest Digital Wallet to Customers 4Revolutionary Smart Wallet & Mobile Payment Choices Change the Game for Consumers - Company Begins Shipping Newest Digital Wallet to Customers 5Revolutionary Smart Wallet & Mobile Payment Choices Change the Game for Consumers - Company Begins Shipping Newest Digital Wallet to Customers 6DERMALOG Presents its Latest Biometric Innovations at the Hannover CeBIT Exhibition, 16 - 20 March 2015 2DERMALOG Presents its Latest Biometric Innovations at the Hannover CeBIT Exhibition, 16 - 20 March 2015 3Biometrics Key to Future Growth in Healthcare, Retail and Financial Markets 2Biometrics Key to Future Growth in Healthcare, Retail and Financial Markets 3
... kind, researchers have used tools of paleontology to gain new ... shown that during the evolution of these compounds nature doesn,t ... synthesise forms, giving pointers that will help in the search ... has allowed the study of the evolution of the characteristic ...
... Complex traits that help plants adapt to environmental ... genes that are affected by both the plant,s growth ... at the University of California, Davis. The findings ... defense metabolism in Arabidopsis thaliana, a common research plant. ...
... FAIRFAX, Va.The Society of Interventional Radiology Foundation,s Discovery ... minimally invasive medicine into new areas of discovery, ... Sirtex Medical Inc.a medical devices company that researches, ... liver cancer using small particle technology and has ...
Cached Biology News:Nature reaches for the high-hanging fruit 2Genomewide mapping reveals developmental and environmental impacts 2
(Date:3/26/2015)... CINCINNATI , March 26, 2015 ... NASDAQ: SHPG ) and Cincinnati Children,s Hospital ... collaboration for rare diseases. The goal of the collaboration ... treat rare diseases with high unmet medical need ... Children,s research expertise. As a nationally ranked hospital, ...
(Date:3/26/2015)... 2015 "In America," the popular news television ... that is hosted by legendary film actor James Earl Jones, ... in an upcoming segment. , Botany is commonly described ... is actually quite a bit more complicated than that. Scientists ... of living organisms, from the smallest bacteria known to man ...
(Date:3/25/2015)... (PRWEB) March 26, 2015 Agnition announced ... episode of American Farmer, airing for the first time ... segment of American Farmer will explore the extremely important ... crop producers with a patented Microbial Catalystâ„¢ technology that ... greater yields. The segment will air again on April ...
(Date:3/25/2015)... YORK , March 25, 2015  S&P ... commenced Factual Stock Report coverage on Abattis ... (OTCQX: ATTBF; CSE: ATT): is a specialty biotechnology ... of cultivating, licensing and marketing proprietary ingredients, bio-similar ... markets in North America . ...
Breaking Biology Technology:Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 2Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 3Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 4Shire and Cincinnati Children's Establish Rare Disease Research Collaboration 5Agnition to be Featured In Upcoming Episode of American Farmer on RFD-TV 2S&P Capital IQ Initiates Coverage on Abattis Bioceuticals Corp. in S&P Capital IQ Factual Stock Reports 2S&P Capital IQ Initiates Coverage on Abattis Bioceuticals Corp. in S&P Capital IQ Factual Stock Reports 3S&P Capital IQ Initiates Coverage on Abattis Bioceuticals Corp. in S&P Capital IQ Factual Stock Reports 4S&P Capital IQ Initiates Coverage on Abattis Bioceuticals Corp. in S&P Capital IQ Factual Stock Reports 5
... BEIJING, Sept. 8 /PRNewswire-Asia/ -- Sinovac ... of vaccines in China, today announced,that the first lot of ... China,s National Institute for the Control of Pharmaceutical and,Biological Products ... means the released vaccines are ready for delivery. , ...
... Both ... ... Ensuring food security for a growing world population is a moral imperative and plant ... and techniques to meet future demands, William S. Niebur , vice president - ...
... , NEW BRUNSWICK, N.J., Sept. 8 ... SNT ) today announced that the Company will be presenting at ... held at the New York Palace Hotel from September 9th - ... will deliver the Company,s corporate presentation on Friday, September 11th, at ...
Cached Biology Technology:Sinovac Obtains Lot Release Certificate for Its First Batch of H1N1 Vaccine 2DuPont Leader Says Increasing Food Production a Moral Imperative 2DuPont Leader Says Increasing Food Production a Moral Imperative 3Senesco Technologies to Present at 11th Annual Rodman & Renshaw Healthcare Conference 2
... The Rapid-Screen cDNA Library Panels were designed ... three sets of PCRs to identify the ... is performed in a 96-well "Master Plate," ... 5,000 clones. Having identified the positive well(s) ...
... is integrated informatics solution for the ... drug response modeling. This web-based software ... knowledge base of biological networks, and ... capable of extracting pathway-related information from ...
Application: For use as a carrier in nucleic acid purification and precipitation. Physical form: Solution in 10 mM Tris HCl, pH 7.4, 1 mM EDTA Concentration: 9-11 mg/mL Physical Form: buffered aqu...
... Unique, compact measuring instrument for calibrating ... compact design and the robust carrying case, ... both in the laboratory and on-site at ... easy to use because the individual channels ...
Biology Products: