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:7/11/2014)... Recent evidence has demonstrated that transplantation of mesenchymal stem ... rat or mouse models of Alzheimer,s disease (AD) and ... cerebral ischemia. Few studies are reported on the therapeutic ... with AD and on the effect on oxidative injury ... Yufang Yan and her team, School of Life Sciences, ...
(Date:7/11/2014)... 1 can inhibit voltage-gated calcium channel, decrease ... However, some scholars demonstrated that cannabinoid receptor ... and increase neurotransmitter release. Dr. Yi Zhang ... Tongji Medical College, Huazhong University of Science ... and calcium imaging in cultured trigeminal ganglion ...
(Date:7/11/2014)... Rio de Janeiro, Brazil- In the brains of ... mechanism that allows an electric or chemical signal ... another. Chemical synapses, which are the most abundant ... inhibitory. Synapse formation is crucial for learning, memory, ... and inhibitory synapses critical for brain function. ...
Breaking Biology News(10 mins):Blame it on the astrocytes 2
... Nov. 14, 2013  Inovio Pharmaceuticals, Inc. (NYSE MKT: INO) ... J. Joseph Kim , has been selected to receive ... from the Korean American Society in Biotech and Pharmaceuticals ... of drug discovery and development through collaborations and information ...
... which fills in a significant gap in the fossil record ... today. A skull from the new species, named Panthera ... Jack Tseng a PhD student at the USC Dornsife College ... and now a postdoctoral fellow at the American Museum of Natural ...
... UC San Diego and their colleagues are unraveling the ... dazzling bioluminescent display in the form of puffs of ... world in muddy environments, from shallow bays to deeper ... marine wormcommonly known as the "parchment tube worm" due ...
Cached Biology News:Inovio Pharmaceuticals CEO Receives 2013 Drug Discovery & Achievement Award 2Inovio Pharmaceuticals CEO Receives 2013 Drug Discovery & Achievement Award 3Inovio Pharmaceuticals CEO Receives 2013 Drug Discovery & Achievement Award 4Inovio Pharmaceuticals CEO Receives 2013 Drug Discovery & Achievement Award 5Fossil of new big cat species discovered; oldest ever found 2Nature's glowing slime: Scientists peek into hidden sea worm's light 2Nature's glowing slime: Scientists peek into hidden sea worm's light 3
(Date:7/10/2014)... -- Kainos Capital, a firm specializing in acquiring and managing ... acquired the Slim-Fast brand from Unilever. Unilever will retain ... transaction were not disclosed. Slim-Fast is a ... ready-to-drink shakes, powders, bars and snacks to retail customers ... the United Kingdom and Ireland.  ...
(Date:7/10/2014)... , July 10, 2014 Research and ... of the "International Photonic Integrated Circuit (Monolithic ... to 2019" report to their offering. ... The concept of photonic integration traces its roots ... The promise of photonic integration went unexplored and ...
(Date:7/10/2014)... -- According to the International Atomic Energy Agency ... from terrorists acquiring sufficient quantities of plutonium or ... nuclear explosive device. The IAEA also notes that ... gram-level quantities, which can be challenging to detect ... new study appearing this week in the ...
(Date:7/10/2014)... 17, 2014 Using microscopic polymer light resonators ... researchers at MIT,s Quantum Photonics Laboratory have developed ... the parts-per-billion range. Optical sensors are ideal for ... signal-to-noise ratio, compact, lightweight nature, and immunity to ... had been developed before, the MIT team conceived ...
Breaking Biology Technology:Kainos Capital Acquires Slim-Fast From Unilever 2International Photonic Integrated Circuit (Monolithic Integration, Hybrid Integration, Module Integration) Market - Forecasts to 2019 2Sensitive detection method may help impede illicit nuclear trafficking 2Swell new sensors 2
... /PRNewswire-FirstCall/ - AEterna Zentaris Inc.,(NASDAQ: AEZS , ... therapy and oncology, will announce its second quarter ... Tuesday, August 12,2008. The Company will host a ... that same day at 4:30 p.m., Eastern Time., ...
... BOSTON and BEECH ISLAND, S.C., Aug. 6 ... will invest up to $60 million in ... into a,value-added high-nitrogen fertilizer product capable of ... will fund the,construction of multiple biosolids-to-fertilizer manufacturing ...
... VANCOUVER, Aug. 6 /PRNewswire-FirstCall/ - Ondine Biopharma ... company developing,photodisinfection-based products, today announced that its ... to present at the 28th Annual,Canaccord Adams ... in,Boston, on Tuesday August 12th, 2008 at ...
Cached Biology Technology:Denham Capital to Invest $60 Million in VitAG, Recycler of Municipal Biosolids 2Ondine to Present at Canaccord Adams 28th Annual Global Growth Conference 2
... protein assay reagents package is used for determining ... and detergents. The RC DC protein assay is ... for 500 standard assays: 250 ml RC reagent ... alkaline copper tartrate solution, 2 L dilute Folin ...
... SureLINK Bioconjugation Kit provides a powerful ... carbohydrates and nuceleic acids. The kit provides ... with reagents for quantifying conjugation efficiencies. It ... fluorophores, biotin and other tags with a ...
...
MAb to HLA, Class II-DR+DP Dry Ice: No Preservative: NaN3 Availability When Not in Inventory: 14-21 Business Days...
Biology Products: