Navigation Links
Stowers Institute researchers identify gene linked to vertebral defects in patient populations
Date:5/15/2008

Stowers Institute researchers Karen Staehling-Hampton, Ph.D., Managing Director of Molecular Biology, and Olivier Pourqui, Ph.D., Investigator, collaborated with colleagues from around the world to show that genes known to cause spinal mutations in chick and mouse model systems also play an important role in human patients with congenital vertebral abnormalities.

The discovery was published today on the Web site of the American Journal of Human Genetics.

Working with samples from 31 patients at Boston Childrens Hospital with various congenital vertebral defects, the team sequenced five genes thought to be involved in the malformations. In a patient of Puerto Rican descent, the team discovered a mutation in the MESP2 gene a mutation that completely disrupted the function of the gene.

The affected patient had Spondylothoracic Dysostosis, also known as Jarcho-Levin Syndrome. Spondylothoracic Dysostosis is a rare genetic disorder characterized by distinctive malformations of the vertebrae and ribs, respiratory problems, and other abnormalities. Infants born with Spondylothoracic Dysostosis have short necks, limited neck motion, and are short in stature. Spondylothoracic Dysostosis is prevalent in the Puerto Rican population.

Sequencing of samples from additional Spondylothoracic Dysostosis patients of Puerto Rican descent demonstrated the same mutation in the MESP2 gene.

Spondylothoracic Dysostosis was first characterized in the Puerto Rican population 70 years ago, said Dr. Staehling-Hampton, co-equal first author on the paper, but the gene mutation causing the condition was not isolated until now. The MESP2 mutation can be detected by a simple assay, so identification of this mutation will allow people who have a family history of Spondylothoracic Dysostosis to determine if they carry the mutation and whether they are at risk of passing the disorder on to future generations.

After working for many ye
'/>"/>

Contact: Marie Jennings
mfj@stowers-institute.org
816-926-4015
Stowers Institute for Medical Research
Source:Eurekalert

Page: 1 2

Related biology news :

1. Stowers Proteomics Center devises method for assigning probabilities to human protein interactions
2. Stowers Institutes Hawley Lab identifies factors responsible for restart of meiotic cycle
3. Stowers Institutes Xie Lab demonstrates dual intrinsic and extrinsic control of stem cell aging
4. Brown opens institute for molecular and nanoscale innovation
5. Beijing Genomics Institute adds AB SOLiD system to its next generation sequencing technologies
6. Autism Speaks collaborates on grant with the Allen Institute for Brain Science and autism expert
7. Pew Institute teams with Chantecaille Cosmetics to protect global marine life
8. Mechanisms of plant-fungi symbiosis characterized by DOE Joint Genome Institute
9. Pew Institute for Ocean Science awards 5 fellowships in support of global marine conservation
10. Lupus Research Institute strategy delivers $30 million in national funding
11. Baker Institute finds increased domestic production wont make US self-sufficient in natural gas
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/10/2015)... DUBLIN , April 10, 2015 ... the addition of the "Security Competitive Profiles - ... (Logo: http://photos.prnewswire.com/prnh/20130307/600769) , NEC will continue to ... solutions to the market, with a company focus on ... solution anticipated. Winning opportunities in the ...
(Date:4/6/2015)... 2015 NXT-ID, Inc. (NASDAQ: NXTD ) ... focused on the growing mobile commerce market, announced ... for MINIATURE, MULTI-PURPOSE ANTENNA METHOD AND SYSTEM ... NXT-ID introduces a new revolutionary method and system ... use of miniature antenna modules for multiple purposes ...
(Date:4/2/2015)... April 2, 2015 According to ... attributed to somewhat higher than 125 MSEK. This exceeds ... report 2014 that revenues for Q1 2015 would be ... reported for Q4 2014. The operating result for the ... The complete interim report will as previously communicated be ...
Breaking Biology News(10 mins):NEC Security Competitive Profile 2015 2NXT-ID Patents Miniature, Low Power Wireless Magnetic Stripe 2NXT-ID Patents Miniature, Low Power Wireless Magnetic Stripe 3NXT-ID Patents Miniature, Low Power Wireless Magnetic Stripe 4Fingerprint Cards Revises Revenues for Q1 2015 2
... the tale of your family line. It carries the genetic ... a Tel Aviv University researcher, it,s also possible to use ... Eran Halperin of TAU,s Blavatnik School of Computer Science and ... of researchers from University of California, Los Angeles, are giving ...
... flock together and according to a new analysis so ... heritage of avian feather lice indicates that their louse ancestors first ... and then "radiated" to different habitats on those birds to ... species. This finding surprised the researchers because wing lice from many ...
... injured themselves during leisurely deep-sea diving trips and not from ... identified bone deformities on the fossilized remains of Ichthyosarians ... 245 million years ago. The lesions were similar ... in body pressure, and suggest the reptiles suffered from a ...
Cached Biology News:A GPS in your DNA 2Bird louse study shows how evolution sometimes repeats itself 2'Dinosaur bends' caused by prolonged diving 2
(Date:4/27/2015)... Corporation (NYSE: HAE ) today reported revenue ... million, down 6%.  Excluding currency impact, revenue was ... a fourth quarter GAAP net loss of $2.9 ... exclusive of transformation, restructuring and deal amortization expenses ... adjusted earnings per share were $0.47, up 2%. ...
(Date:4/27/2015)... 2015 DryLet, LLC a biotechnology ... such as animal waste reduction, bioremediation, wastewater treatment, ... wastewater treatment plants and restaurant kitchen settings, announced ... Texas Commission on Environmental Quality (TCEQ) Environmental Trade ... , The company will highlight three of its ...
(Date:4/27/2015)... tru Shrimp™ Systems announced today that it ... for the exclusive worldwide rights to commercialize Tidal Basin™ ... license agreement for the patented technology, developed by world-renowned ... as China, Taiwan, France, Germany, Italy, Spain, the Netherlands ... inquires from all over the world for our Tidal ...
(Date:4/27/2015)...  Together with its customers, Elekta raised EUR 30,575 ... Barcelona . The funds will be donated ... to improve cancer care, specifically radiation oncology care, around ... patient should be denied potentially life-saving treatment simply because ... hospitals and clinics around the world to take care ...
Breaking Biology Technology:Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 2Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 3Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 4Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 5Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 6Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 7Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 8Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 9Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 10Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 11Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 12Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 13Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 14Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 15Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 16Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 17Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 18Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 19Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 20Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 21Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 22Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 23Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 24Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 25Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 26Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 27Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 28Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 29Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 30Haemonetics Reports 4th Quarter Fiscal 2015 Revenue of $226 Million and Adjusted EPS of $0.47; Full Year Revenue of $910 Million and Adjusted EPS of $1.85; Provides Fiscal 2016 Guidance 31DryLet to Showcase Multiple Products at Texas Commission on Environmental Quality Trade Fair and Conference May 5-6 in Austin, Texas 2tru Shrimp™ Systems Acquires Global Patent for Tidal Basin™ Shrimp Production 2Elekta helps raise $33,000 to bring radiation treatment to developing countries 2Elekta helps raise $33,000 to bring radiation treatment to developing countries 3
... of protein precipitation with the selectivity of ... and proteins from biological samples prior to ... a division of Sigma-Aldrich (Nasdaq: ... chromatography products for analysis and purification, announces ...
... Champions Biotechnology, Inc. (OTC Bulletin Board: ... preclinical platforms and tumor specific data to enhance the ... Champions Biotechnology UK Ltd. (CBUK), to expand its personalized ... Manager of the UK subsidiary, which will also have ...
... German . , Leipzig: Research and industry ... as their application in research, medical diagnosis and treatment, ... for use in environmental analysis because their characteristics enable ... as a key fits a lock. In a new ...
Cached Biology Technology:HybridSPE(TM)-Precipitation Technology Wins SelectScience.net 2009 Scientists' Choice Award for Best New Separations Product in 2008 2HybridSPE(TM)-Precipitation Technology Wins SelectScience.net 2009 Scientists' Choice Award for Best New Separations Product in 2008 3Champions Biotechnology, Inc. Establishes UK Subsidiary and Retains General Manager to Expand Its Personalized Oncology Business 2Champions Biotechnology, Inc. Establishes UK Subsidiary and Retains General Manager to Expand Its Personalized Oncology Business 3Champions Biotechnology, Inc. Establishes UK Subsidiary and Retains General Manager to Expand Its Personalized Oncology Business 4Fitting pieces for biosensors 2Fitting pieces for biosensors 3Fitting pieces for biosensors 4
... The wide and long ... of Polaroid gel documentation systems. ... holds the camera in place ... that allows photography on the ...
... from frozen embedded tissue blocks, which are ... ensure the highest quality. Tissues of each ... sectioned at a thickness of 7 microns ... large (3-5 mm in diameter) in comparison ...
... are derived from frozen embedded tissue blocks, ... procedures to ensure the highest quality. Tissues ... one block, sectioned at a thickness of ... are large (3-5mm in diameter) in comparison ...
... tissue microarrays are derived from Paraffin embedded ... quality control procedures to ensure the highest ... assembled in one block, sectioned at a ... coated slides. Sections are large (3-5mm in ...
Biology Products: