Navigation Links
CSHL-led team discovers rare mutation dramatically increasing schizophrenia risk
Date:10/25/2009

An international team of researchers led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL), has identified a mutation on human chromosome 16 that substantially increases risk for schizophrenia.

The mutation in question is what scientists call a copy number variant (CNV). CNVs are areas of the genome where the number of copies of genes differs between individuals. The CNV is located in a region referred to by scientists as 16p11.2. By studying the genomes of 4,551 patients and 6,391 healthy individuals, Sebat's team has shown that having one extra copy of this region is associated with schizophrenia. The study appears online today ahead of print in the journal Nature Genetics.

The mutation identified in this study is a potent risk factor. "In the general population this duplication is quite rare, occurring in roughly one in 5,000 persons", says Sebat, "but for people that carry the extra copy, the risk of developing schizophrenia is increased by more than eight-fold". This finding is the latest in a series of studies that have pinpointed rare CNVs that confer substantial risk of schizophrenia. Others include deletions on chromosomes 1, 15 and 22.

Schizophrenia and autism: two sides of the same coin?

"This is not the first time that the 16p11.2 region has caught our eye," says Sebat. It was previously spotted in a 2007 study with Professor Michael Wigler at CSHL -- a deletion of the identical region was identified in a girl with autism. Studies by several other groups have shown that losing one copy of 16p11.2 confers high risk of autism and other developmental disorders in children.

Taken together these studies suggest that some genes are shared between schizophrenia and autism, according to Sebat and colleagues. "In some ways, we might consider the two disorders to be at opposite ends of the same neurobiological process" says Shane McCarthy, Ph.D., the lead author of the st
'/>"/>

Contact: Peter Tarr
tarr@cshl.edu
516-367-8455
Cold Spring Harbor Laboratory
Source:Eurekalert

Page: 1 2

Related biology news :

1. CSHL-led team identifies key decision-point at which cells with broken DNA repair themselves or die
2. Case Western Reserve University discovers Merkel cell originates from skin, not the neural crest
3. IU discovers stone tools, rare animal bones -- clues to Caribbeans earliest inhabitants
4. La Jolla Institute discovers novel tumor suppressor
5. NTU professor discovers method to efficiently produce less toxic drugs using organic molecules
6. Biologist discovers pink-winged moth in Chiracahua Mountains
7. UCSF discovers new glucose-regulating protein linked with diabetes
8. Stowers Institutes Workman Lab discovers novel histone demethylase protein complex
9. Texas A&M anthropologist discovers long-lost primate in Indonesia
10. International team discovers gene associated with epilepsy
11. UCR graduate student discovers, names bacterium linked to psyllid yellows
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/11/2014)... , Dec. 09, 2014 Research and ... ( http://www.researchandmarkets.com/research/9ql3kr/biometrics_market ) has ... in India 2015-2019" report to their offering. ... this market is the adoption of multimodal biometric ... characteristic of an individual for verification and identification ...
(Date:12/11/2014)... 10, 2014  Data Sciences International (DSI), the ... a new series of digital telemetry implants to ... M series, part of the PhysioTel™ Digital platform, ... possible physiologic data when incorporating functional endpoints into ... to toxicology studies has evolved from short ECG ...
(Date:12/10/2014)... N.C. , Dec. 9, 2014  Valencell, a ... it is seeing a staggering demand from its licensees ... the Company revealed, is not solely coming from fitness ... as well. "A wearable is only as ... result, accuracy is the ultimate driver in long-term mass ...
Breaking Biology News(10 mins):Biometrics Market in India 2015-2019: Key Vendors are 3M Cogent, NEC, Safran and Suprema 2New telemetry implants expected to change how large animal toxicology studies are conducted 2Wearable Technology Products Demand Highly Accurate Biometric Technology 2
... Ariz. , April 27 Katie Michaels , star of Barely ... series, has announced she is returning to Phoenix to attend game seven ... Wings. , , , ... , , ...
... AMSTERDAM , April 27, ... 2008 levels resulting in heightened focus on credit risk,management ... Practices,survey have expressed marginal improvement in payment behaviour of ... cases these improvements may,reflect the response to tighter, more ...
... LONDON , April 27, 2010 Dominio Amigo S.A.S , ... .CO domain name launch. , , ... Julio Camacho , CEO, Dominio Amigo S.A.S , commented, ... consistently performed,at both ccTLD and gTLD launches, securing the very best Internet real ...
Cached Biology News:Adult Star Katie Michaels Attending NHL Game 7 Red Wings vs. Coyotes 2Payment Default Risks Remain a Crucial Issue for Businesses Across Europe 2Payment Default Risks Remain a Crucial Issue for Businesses Across Europe 3Payment Default Risks Remain a Crucial Issue for Businesses Across Europe 4Dominio Amigo Announce Domainmonster as .CO Technical Partner 2Dominio Amigo Announce Domainmonster as .CO Technical Partner 3
(Date:12/19/2014)... 2014 Today, TiFiber, Inc. ... production facility and future company headquarters in Fort ... new materials that safely and effectively control dangerous ... of its historic, strong support for manufacturing, but ... leading edge, technology-based companies such as TiFiber. ...
(Date:12/19/2014)... Biddeford, ME (PRWEB) December 18, 2014 ... founding director of the Center for Excellence in the ... of New England, has been selected as a member ... He is the first neuroscientist from Maine to receive ... a nonprofit organization supported entirely by the Dana Foundation. ...
(Date:12/19/2014)... (PRWEB) December 18, 2014 iLab Solutions, ... the appointment of Siri Bryant as the new Director ... Director of Core Implementations. These two new leadership positions ... customer service by ensuring that iLab continues to meet ... the last four years, iLab has been deployed at ...
(Date:12/19/2014)... (PRWEB) December 19, 2014 The ... to the rising ageing population and technological innovations ... and nutraceutical industries are catalysing the growth of ... @ http://www.marketsandmarkets.com/Market-Reports/empty-capsules-market-218018190.html , Scope of Report ... as well as new entrants/smaller firms to gauge ...
Breaking Biology Technology:Technology Company TiFiber™ to Establish Production Facility in Fort Smith, Arkansas with Support from Local Investors 2Technology Company TiFiber™ to Establish Production Facility in Fort Smith, Arkansas with Support from Local Investors 3Technology Company TiFiber™ to Establish Production Facility in Fort Smith, Arkansas with Support from Local Investors 4UNE's Ed Bilsky Named Member of Dana Alliance for Brain Initiatives 2UNE's Ed Bilsky Named Member of Dana Alliance for Brain Initiatives 3iLab Solutions Announces Two New Leadership Positions to Meet the Needs of Its Growing Customer Base 2Empty Capsules Market Hit to Reach $1,820 Million by 2019 - New Research Report by MarketsandMarkets 2Empty Capsules Market Hit to Reach $1,820 Million by 2019 - New Research Report by MarketsandMarkets 3Empty Capsules Market Hit to Reach $1,820 Million by 2019 - New Research Report by MarketsandMarkets 4
... 28, 2011 Vestaron Corporation, a Kalamazoo-based company developing ... today that John Sorenson, Ph.D., will serve as interim ... thanks John McIntyre for his years of service leading ... "John,s scientific leadership has been just what Vestaron ...
... April 28, 2011 Genomatica , an ... , the eighth-largest chemical maker in the world, signed a ... collaboration.  These include: , Study of a j ... production in Asia :  Mitsubishi and Genomatica will explore ...
... 2011 Optimer Pharmaceuticals, Inc. (NASDAQ: OPTR ... 3 trials will be presented at the following medical ... 2011 Poster Presentation Information: Title: , Risk of Recurrence ... difficile Infection: Patient Characteristics and the ...
Cached Biology Technology:Vestaron Corporation Announces New Leadership 2Vestaron Corporation Announces New Leadership 3Mitsubishi Chemical Corporation Signs Memorandum of Understanding for Strategic Partnership With Genomatica for Sustainable Chemicals in Asia 2Mitsubishi Chemical Corporation Signs Memorandum of Understanding for Strategic Partnership With Genomatica for Sustainable Chemicals in Asia 3Optimer Pharmaceuticals and Clinical Investigators to Present Data at Upcoming Medical Meetings 2Optimer Pharmaceuticals and Clinical Investigators to Present Data at Upcoming Medical Meetings 3
...
... This CLS number is a ... easily match Cornings product number. ... please order under the old ... customer service for assistance. ...
... is a new product number, ... product number. If showing no ... the old Sigma-Aldrich number (R3776) ... assistance. Material: cap polystyrene ...
... simple and convenient method for the rapid, thorough ... optimized for use with S. cerevisiae and C. ... species that is susceptible to yeast lytic enzyme ... of yeast cells that are ideal for both ...
Biology Products: