Navigation Links
The findings between DNMs and autism provides global view of mutability on human diseases
Date:12/21/2012

December 21, 2012, Shenzhen, China A study published online in Cell reports the latest investigation of de novo germline mutation by whole genome sequencing in autism patients. This study provides a global view of the landscape of mutability and its influence on genetic diversity and susceptibility in autism, and its implications on other human diseases. The work was a collaborative effort led by international teams comprised of the University of California, San Diego, BGI, and other institutes. The results are expected to shed new light on a deeper understanding of the mechanisms underlying genome evolution and human diseases.

Mutation plays an important role in human diseases, such as Autism Spectrum Disorders (ASDs). Many cases for ASDs are caused by de novo mutations that are not inherited, but arise spontaneously in the ovum, sperm or fertilized egg. Epidemiologists have reported a higher risk of autism in children with older fathers, but so far there has been few biological evidence to support this theory. To comprehensively explore the genetics of ASDs, it is vital to understand the mutational process and how the de novo germline mutation impacts ASDs.

In this study, researchers applied whole genome sequencing (WGS) approach to characterize patterns of de novo germline mutations (DNMs). A total of 581 DNMs were identified from ten monozygotic twins that suffered from ASDs by comparing with their unaffected parents. To better understand the paternal age effects on mutation rate, the twins were separated into two groups, one with younger fathers (<30 years old), and the other with older fathers (>40 years old). The results showed that paternal age accounted for a substantial portion of variability in mutation that happened in offspring, while maternal age has no significant effect.

Mutation is a random process. However, researchers in this study found DNMs displayed a remarkably non-random positioning in the genome and spaced more c
'/>"/>

Contact: Jia Liu
liujia@genomics.cn
BGI Shenzhen
Source:Eurekalert

Page: 1 2

Related biology news :

1. Mercury releases contaminate ocean fish: Dartmouth-led effort publishes major findings
2. Verinata Health Announces New Findings At The American Society Of Human Genetics
3. New findings on gene regulation and bone development
4. New findings on protein misfolding
5. Blue Ribbon Panel unveils findings on logistical improvements to support Antarctic science
6. ACRG and BGI report findings from genomics research on recurrent hepatitis B virus integration
7. New menhaden study will help identify balance between fishing and preserving Bay forage fish
8. Dark Ages scourge enlightens modern struggle between man and microbes
9. Multiple sclerosis immune exchange between brain and blood is uncovered
10. Researchers study links between conflict and fisheries in East Africa
11. Mongolia and the Altai Mountains: Origins of genetic blending between Europeans and Asians
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/25/2014)... factor characterized by the existence of numerous isoforms ... to the protein deeply different characteristics. NRG1 plays ... during development and the different phases occurring after ... regrowth, remyelination and target reinnervation, Researchers at the ... soluble NRG1 upregulation observed in Schwann cells immediately ...
(Date:7/25/2014)... PITTSBURGH -- The routine use of a molecular ... likelihood of performing the correct initial surgery for ... from the University of Pittsburgh Cancer Institute (UPCI), ... the UPMC/UPCI Multidisciplinary Thyroid Center and other diagnostic ... the correct initial surgery by 30 percent, according ...
(Date:7/24/2014)... Keryx Biopharmaceuticals, Inc. (Nasdaq:KERX) (the "Company") announced the publication ... 3 study of Zerenex (ferric citrate), the Company,s investigational ... hyperphosphatemia in patients with end-stage renal disease (ESRD) on ... with FErric CiTrate in EsrD) was published online today ... Nephrology ( JASN ). , This ...
Breaking Biology News(10 mins):Test increases odds of correct surgery for thyroid cancer patients 2Test increases odds of correct surgery for thyroid cancer patients 3Zerenex™ (ferric citrate) long-term Phase 3 study results published in JASN 2Zerenex™ (ferric citrate) long-term Phase 3 study results published in JASN 3Zerenex™ (ferric citrate) long-term Phase 3 study results published in JASN 4
... DALLAS May 20, 2008 Mutations in two ... the brain involved in sleep create a human-like insomnia ... found. The findings may help scientists better understand the ... This is one of the most dramatic ...
... exposure to chemicals is on the increase. From food ... with potentially-toxic substances could be affecting our health ... Nottingham are set to take part in one of ... on female mammals. Part of the Reproductive Effects of ...
... CITY Researchers have been unable to build an ... dream of ultrafast optical computers. But now, University of ... photonic crystals with the ideal, diamond-like structure: They are ... beetle from Brazil. It appears that a simple ...
Cached Biology News:Gene mutations in mice mimic human-like sleep disorder, UT Southwestern researchers find 2Do chemicals in the environment affect fertility? 2The photonic beetle 2The photonic beetle 3The photonic beetle 4The photonic beetle 5
(Date:7/28/2014)... PA & Boston, MA (PRWEB) July 28, 2014 ... collaboration agreements with two researchers to further develop potential ... deadly malignant brain tumor, in combination with their patented ... by ITI and Duke University, are based on the ... Chief, Division of Neurosurgery at The Preston Robert Tisch ...
(Date:7/28/2014)... July 28, 2014   Propeller Health , the ... the hire of Brad Towle as Senior ... responsible for driving the company,s sales growth, customer acquisition ... healthcare, and specifically his past role in the development ... company at this pivotal time in the industry," said ...
(Date:7/28/2014)... Appistry, Inc. , a leading ... power of genomics to next-generation medicine, announced today its ... . , Two Appistry staff will be joined ... for Genome Resources, and Mr. Neil Miller, director of ... City. Rounding out the panel are Appistry’s Dr. Richard ...
(Date:7/28/2014)... (PRWEB) July 28, 2014 It’s a hard ... Bill benefits to further their post-secondary education are failing to ... study released this year. And according to an analysis by ... shortfall is veteran students’ uninformed choice of college majors, which ... details of the study: Some 51.7 percent of post-9/11 veterans ...
Breaking Biology Technology:String of Collaborations Launch Immunomic Therapeutics’ Brain Tumor Program Pipeline 2String of Collaborations Launch Immunomic Therapeutics’ Brain Tumor Program Pipeline 3String of Collaborations Launch Immunomic Therapeutics’ Brain Tumor Program Pipeline 4Propeller Health Hires Brad Towle as Senior Vice President of Business and Client Development 2Appistry Names Industry Experts from the National Center for Genome Resources and Mercy Children's, Kansas City, to Judge Pipeline Challenge Competition 2Resume Place: To Choose the Best College Majors, Veterans Need Early Career Counseling, Data Shows 2Resume Place: To Choose the Best College Majors, Veterans Need Early Career Counseling, Data Shows 3Resume Place: To Choose the Best College Majors, Veterans Need Early Career Counseling, Data Shows 4
... 2008 Lentigen Corporation today,announced an exclusive ... for licensing technologies from the University of,Cambridge ... area of lentiviral vector,technology. The technology was ... at the University of Cambridge., "The ...
... Vice President of Finance -, HOPKINTON, Mass., April ... ) today announced the promotion of Peter F.,McAree to ... as Vice President of Finance at Caliper. Effective April,4, ... CFO., McAree has more than 20 years of ...
... Chairman and CEO Honors the Anniversary by Ringing The Closing Bell(R) ... ... Calif., April 3, 2008 Edwards,Lifesciences Corporation (NYSE: EW ), ... today announced its,50th anniversary of partnering with clinicians to develop life-saving,innovations. ...
Cached Biology Technology:Lentigen Licenses Fundamental Lentiviral Vector Technology Patent From the University of Cambridge 2Lentigen Licenses Fundamental Lentiviral Vector Technology Patent From the University of Cambridge 3Caliper Life Sciences Appoints Peter F. McAree Senior Vice President and Chief Financial Officer 2Edwards Lifesciences Celebrates 50 Years of Life-Saving Innovations 2Edwards Lifesciences Celebrates 50 Years of Life-Saving Innovations 3
... Rabbit polyclonal antibody to human XAB2 ... was first identified through its interaction with ... a fraction of XAB2 interacts with the ... well as with RNA polymerase II. Microinjection ...
... provide custom microplate coating using advanced automated high throughput microplate ... formats. We can also accommodate virtually any lot size of ... , 8 and 12 ... 384 well microplate, ...
...
Mynox is intended for research use only. Mynox is used for the elimination of Mycoplasma and Acholeplasma in cell and virus cultures, and other biologicals....
Biology Products: