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:12/10/2014)... -- You,ve been here before: you desperately need to sign ... site key or the answer to your secret question. What,s ... Today, Hoyos Labs , a digital infrastructure ... put an end to the frustration that comes with usernames, ... leverages a user,s smartphone to acquire his or her biometrics ...
(Date:12/10/2014)... , Dec. 08, 2014 Research and Markets ... addition of the "Biometrics Market in Japan ... http://photos.prnewswire.com/prnh/20130307/600769 The ... such as rural banking and upgradation of the ... witnessed in the market. Besides the aforementioned projects, ...
(Date:12/4/2014)... PALM BEACH GARDENS, Fla. , Dec. 3, ... identity management solutions, today announced that its DigitalPersona ... 4500 fingerprint readers have been deployed throughout ... Carolina , South Carolina ... network headquartered in Southern Pines, North ...
Breaking Biology News(10 mins):The Password is Finally Dead: Launch of 1U Mobile App Eliminates Need for All Usernames and Passwords 2The Password is Finally Dead: Launch of 1U Mobile App Eliminates Need for All Usernames and Passwords 3Biometrics Market in Japan 2014-2018: Key Vendors are DDS, Fujitsu, Hitachi and NEC 2First Bank Partners with Crossmatch to Increase Log In Security 2First Bank Partners with Crossmatch to Increase Log In Security 3
... food becomes scarce, animal populations exploit a wider range ... at different sites in California,s coastal waters were not ... population is higher where food is limited. But this ... sea otters, which instead showed dietary specialization in response ...
... some of the genetic secrets that enable pine ... disease, uncovering critical new information about forests natural ... this genetic analysis will allow forest stewardship programs ... that could in time repel insects such as ...
... --- Mother Nature regulates critical cellular activities in plants ... specific biochemical reactions. Looking to learn from nature, a ... million grant from the Air Force Office of Scientific ... for military and civilian applications. The grant ...
Cached Biology News:Sea otter study reveals striking variability in diets and feeding strategies 2Sea otter study reveals striking variability in diets and feeding strategies 3UBC discovery unlocks tree genetics, gives new hope for pine beetle defense 2Team of chemists receives $5 million grant to develop enzyme mimics 2
(Date:12/19/2014)... iLab Solutions, the global leader in core ... as the new Director of Institutional Implementations and Sarah ... two new leadership positions were created to support iLab’s ... iLab continues to meet the needs of its growing ... has been deployed at over 450 core facilities across ...
(Date:12/19/2014)... Diego, CA (PRWEB) December 18, 2014 ... a limited time special on Sartorius Biohit products ... Free on mLINE pipettes, Picus Electronic Pipette Trade-in Program, ... by Health and Safety officers around the world. They ... manual pipetting. Other features include:, ,     Full ...
(Date:12/19/2014)... ISN has released its third annual U.S. ... series. With data aggregated from over eight billion U.S. ... online contractor management platform, ISNetworld, this three-part series provides ... The Contractor Performance Benchmarking ... in two industry specific volumes: Oil & Gas, ...
(Date:12/17/2014)... December 17, 2014 Based on ... overall surgical imaging market is dominated by four ... surgical imaging market. These players include GE Healthcare ... Imaging (Germany). , Full Report Copy at ... GE Healthcare can be attributed to its strong ...
Breaking Biology Technology:iLab Solutions Announces Two New Leadership Positions to Meet the Needs of Its Growing Customer Base 2Major Pipette Distributor Pipette.com Announces Sartorius Year End Specials 2ISN Releases Third Edition of US Contractor Health & Safety Performance Indicators Publication Series 2ISN Releases Third Edition of US Contractor Health & Safety Performance Indicators Publication Series 3Global Refurbished Surgical Imaging Market by Product & Application is Estimated to Reach $1.25 Billion by 2019 - New Research Report by MarketsandMarkets 2Global Refurbished Surgical Imaging Market by Product & Application is Estimated to Reach $1.25 Billion by 2019 - New Research Report by MarketsandMarkets 3Global Refurbished Surgical Imaging Market by Product & Application is Estimated to Reach $1.25 Billion by 2019 - New Research Report by MarketsandMarkets 4
... Inc. (Nasdaq: EMIS ) has agreed to ... LLY ) to settle the pending litigation ... submit a Stipulation of Dismissal with,Prejudice of their ... the,Southern District of Indiana. Additional terms and conditions ...
... Morria Biopharmaceuticals Plc, a,private biopharmaceutical company ... announced it has appointed Dr.,Johnson Lau and ... directors. Dr. Johnson Lau (MBBS, MD, ... the,medical, pharmaceutical and corporate fields, having a ...
... f-star, an antibody,engineering company developing novel antibodies ... Antibody Technology, today announced the,appointment of Dr. ... Mudde has,over 20 years of experience in ... research and development. He comes to f-star,from ...
Cached Biology Technology:Emisphere Technologies, Inc. and Eli Lilly and Company Settle Ongoing Litigation 2Morria Biopharmaceuticals Plc Appoints Dr. Johnson Lau and Dr. David Sidransky to Board of Directors 2Antibody Engineering Company f-Star Appoints Geert Mudde as Chief Scientific Officer 2
... StabilZyme HRP Conjugate Stabilizer is an aqueous ... and other non-toxic stabilizing chemicals in a ... 6.7. This product contains a ... 20 ppm Proclin 300 (Rohm and Haas ...
Preparation Note: Prepared by method of Wimmer, E., et al., Biochemistry, 7, 2623 (1968). Quality Clarifier: Acceptor Activity: approx. 1000 picomoles phenylalanine per A 260 unit (not determined b...
This buffer is Specifically formulated to be used with Endogen's Poly-HRP Streptavidin...
... V-106 voice-coil scanning and positioning system ... samples have to be positioned or ... resolution. It provides superior responsiveness compared ... The mechanics (X or XY stage) ...
Biology Products: