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:2/24/2015)... This report analyzes the worldwide markets for Iris ... for the US, Canada , ... Asia-Pacific , Middle East , and ... are provided for the period 2013 through 2020. Also, a ... and analytics are derived from primary and secondary research. Company ...
(Date:2/24/2015)... Feb. 24, 2015 Research and Markets ... of the "Global 2D Gesture Recognition Market ... The analysts forecast the Global 2D Gesture ... 32.12% over the period 2014-2019 The ... sectors is one of the major trends in ...
(Date:2/19/2015)... --Research and Markets ( http://www.researchandmarkets.com/research/kx9zp8/military ) ... Electro-Optical / Infrared Systems Market by Type, by ... to 2020" report to their offering. ... expected to reach $16.35 billion by 2020, to ... report segments the military electro-optical/infrared systems market on ...
Breaking Biology News(10 mins):World Iris Biometrics Industry 2World Iris Biometrics Industry 3World Iris Biometrics Industry 4World Iris Biometrics Industry 5World Iris Biometrics Industry 6World Iris Biometrics Industry 7World Iris Biometrics Industry 8World Iris Biometrics Industry 9World Iris Biometrics Industry 10World Iris Biometrics Industry 11Global 2D Gesture Recognition Market 2015-2019 with Cognitec Systems, CogniVue, eyeSight Mobile Technologies & PointGrab Dominating 2Military Electro-Optical / Infrared Systems (Image Intensification, Laser, Infrared) Market - Forecast to 2020: Featuring Profiles of the Market Leaders on this $16 Billion market 2Military Electro-Optical / Infrared Systems (Image Intensification, Laser, Infrared) Market - Forecast to 2020: Featuring Profiles of the Market Leaders on this $16 Billion market 3
... team of researchers, including scientists from Woods Hole Oceanographic ... ice-covered Arctic waters. Until now, sea ice was thought ... marine plants living under the ice. The amount ... times greater than the amount found in neighboring ice-free ...
... scientists have been working to produce a biodegradable alternative ... researcher is giving the quest for environmentally friendly plastics ... than ever before. Prof. Moshe Kol of ... one of the world,s most commonly used plastics ...
... , A recent report released by the National Science ... grew substantially in the past decade. Approximately 632,700 ... programs in the United States as of fall 2010. ... in 2000, according to the National Science Foundation,s Survey ...
Cached Biology News:Scientists discover huge phytoplankton bloom in ice-covered waters 2Scientists discover huge phytoplankton bloom in ice-covered waters 3Steel-strength plastics -- and green, too! 2Steel-strength plastics -- and green, too! 3
(Date:3/3/2015)... DUBLIN , Mar. 03, 2015 Research ... announced the addition of Jain PharmaBiotech,s new report ... to their offering. , ... is to match the right drug to the ... design the appropriate treatment for a patient according ...
(Date:3/3/2015)... 03, 2015 Research and Markets ... Jain PharmaBiotech,s new report "Gene Therapy - ... , Gene therapy technologies are ... and cell therapy with genetically modified vectors. Gene ... and various routes of administration as well as ...
(Date:3/3/2015)... Elsevier,s DirectCourse online curricula provides states ... comply with new CMS requirements   ... crosswalk tool to help providers of Home and ... workers as a means to comply with new Centers ... CMS amended the regulations, effective March 17, 2015, to ...
(Date:3/3/2015)...  Synthetic Biologics, Inc. (NYSE MKT: SYN), a developer of ... on protecting the microbiome, announced today that Jeffrey Riley ... 27th Annual ROTH Conference being held on March 8-11, 2015 ... Dana Point, CA. Mr. Riley is ... p.m. (Pacific Time). A live webcast of Synthetic ...
Breaking Biology Technology:Global Personalized Medicine Market Report 2015 - Scientific and Commercial Aspects 2014-2024 2Global Personalized Medicine Market Report 2015 - Scientific and Commercial Aspects 2014-2024 3Gene Therapy Market Report 2014-2024 - Technologies, Markets and Companies 2Gene Therapy Market Report 2014-2024 - Technologies, Markets and Companies 3Elsevier's DirectCourse Can Help States Meet and Exceed New CMS Requirements for Home and Community-Based Services 2Elsevier's DirectCourse Can Help States Meet and Exceed New CMS Requirements for Home and Community-Based Services 3Synthetic Biologics to Present at the 27th Annual ROTH Conference 2
... among Midwestern states when it comes to health-care venture ... Venture Investment Report. , ,Released by BioEnterprise, it looked ... in the Midwest area. Minnesota topped the list with ... ,These aren't comprehensive numbers, since not all firms report ...
... with headquarters in Madison, said it has agreed to trade ... ,In exchange for acquiring most of the customers Integra Telecom ... Fargo and Grand Forks in North Dakota, and Little Falls, ... state approval, the deal is expected to close within 90 ...
... long weekend at the Santa Fe Workshops , the renowned ... full disclosure, I was the guest of a very gracious Kodak. ... group of us who write and talk about digital imaging to ... while along the way becoming more familiar with the Kodak ...
Cached Biology Technology:Photography is in the seeing, not the technology 2Photography is in the seeing, not the technology 3
Phospho-TAO2 (S181) Affinity Purified Polyclonal Ab Protein Family: Other Intracellular Kinases...
PEG 8000, Molecular Biology Grade...
... Histone Deacetylase (HDAC) Antibody Sampler Kit ... (HDAC1) Antibody, Catalog #2062, 40 ul Histone ... ul Histone Deacetylase 4 (HDAC4) Antibody, Catalog ... Antibody, Catalog #2082, 40 ul Histone Deacetylase ...
Immunogen: Synthetic Peptide: C N(185) D G T E F G G S I Y Q K(197) Storage: -20 C, Avoid Freeze/Thaw Cycles...
Biology Products: