Navigation Links
Duke scientists map imprinted genes in human genome

DURHAM, NC Scientists at Duke University have created the first map of imprinted genes throughout the human genome, and they say a modern-day Rosetta stone a form of artificial intelligence called machine learning was the key to their success.

The study revealed four times as many imprinted genes as had been previously identified and is featured on the cover of the December 3 issue of Genome Research.

In classic genetics, children inherit two copies of a gene, one from each parent, and both actively shape how the child develops. But in imprinting, one of those copies is turned off by molecular instructions coming from either the mother or the father. This process of imprinting information on a gene is believed to happen during the formation of an egg or sperm, and it means that a child will inherit only one working copy of that gene. Thats why imprinted genes are so vulnerable to environmental pressures: If the only functioning copy is damaged or lost, theres no backup to jump in and help out.

Many of the newly-identified imprinted genes lie within genomic regions linked to the development of major diseases like cancer, diabetes, autism, and obesity. Researchers say that if some of these genes are later shown to be active in these disorders, they may offer clues to better disease prevention or management.

Imprinted genes have always been something of a mystery, partly because they dont follow the conventional rules of inheritance, says Dr. Randy Jirtle, a genetics researcher in the departments of radiation oncology and pathology at Duke and a senior author of the study. Were hoping this new roadmap will help us and others find more information about how these genes affect our health and well-being.

The technical wizardry needed to find the genes fell to Dr. Alexander Hartemink, the other senior author of the study and an assistant professor in Dukes department of computer science, and Philippe Luedi, the first author of the study. They fed sequence data from two types of genes ones known to be imprinted and ones believed not to be imprinted into a computer and asked it to discover the differences. This machine learning approach led to an algorithm, which was able like the original Rosetta stone to decode seemingly impenetrable data, in this case, specific DNA sequences that pointed to the presence of imprinted genes.

We cant say for certain that we identified all of them, but we think we found a large number, says Hartemink.

Jirtle, who has studied imprinting for years, notes that imprinting is an epigenetic event, meaning its something that can change a genes function without altering the sequence of its DNA. Imprinted genes are unusually vulnerable to pressures in our environment even what we eat, drink, and breathe. On top of that, epigenetic changes can be inherited. I dont think people realize that.

Several years ago, Jirtle showed that Agouti mice normally fat and yellow when fed certain dietary supplements, would produce brown, normal weight babies. The babies Agouti genes, the ones responsible for color, were the same as the mothers, yet they looked different. Thats epigenetics in action, says Jirtle.

Its estimated that imprinted genes comprise about 1 percent of the human genome, and until now, only several dozen had been identified. Using their new Rosetta stone, however, Jirtle and Hartemink found 156 new likely imprinted genes, and validated two particularly interesting ones on chromosome 8, where none had been found before. One of them, KCNK9, is mostly active in the brain, is known to cause cancer, and may also be linked to bipolar disorder and epilepsy. The second, DLGAP2, is a possible bladder cancer tumor suppressor gene.

Hartemink says experiments to confirm that all 156 new genes are truly imprinted and not just statistically likely candidates will be difficult, mostly because gene expression varies from tissue to tissue and most genes turn on and off over time. Weve certainly narrowed the field, but we have a whole lot of work ahead of us.


Contact: Michelle Gailiun
Duke University Medical Center  

Related biology news :

1. UK scientists working to help cut ID theft
2. Scientists show that mitochondrial DNA variants are linked to risk factors for type 2 diabetes
3. Comet probes reveal evidence of origin of life, scientists claim
4. Scientists link fragile X tremor/ataxia syndrome to binding protein in RNA
5. Male elephants get photo IDs from scientists
6. Scientists retrace evolution with first atomic structure of an ancient protein
7. Muscle mass: Scientists identify novel mode of transcriptional regulation during myogenesis
8. Carnegie Mellon scientists develop nanogels that enable controlled delivery of carbohydrate drugs
9. Clemson scientists shed light on molecules in living cells
10. Scientists tackle mystery mountain illness
11. T. rex quicker than Becks, say scientists
Post Your Comments:
Related Image:
Duke scientists map imprinted genes in human genome
(Date:10/29/2015)... Va. , Oct. 29, 2015 Daon, ... today that it has released a new version of ... customers in North America have ... IdentityX v4.0 also includes a FIDO UAF certified ... are already preparing to activate FIDO features. These customers ...
(Date:10/29/2015)... NXTD ) ("NXT-ID" or ... the growing mobile commerce market and creator of ... leading marketplace to discover and buy innovative technology ... on StackSocial for this holiday season.   ... a biometric authentication company focused on the growing ...
(Date:10/27/2015)... -- Munich, Germany , October ... automatically maps data from mobile eye tracking videos created ... that they can be quantitatively analyzed with SMI,s analysis ... , October 28-29, 2015. SMI,s Automated Semantic Gaze ... tracking videos created with SMI,s Eye Tracking Glasses ...
Breaking Biology News(10 mins):
(Date:11/24/2015)... ... 24, 2015 , ... This fall, global software solutions leader SAP and AdVenture ... develop and pitch their BIG ideas to improve health and wellness in their schools. ... to win the title of SAP's Teen Innovator, an all-expenses paid trip to Super ...
(Date:11/24/2015)... 24, 2015  Tikcro Technologies Ltd. (OTCQB: TIKRF) today announced that its ... at 11:00 a.m. Israel time, at the law ... Allon Street, 36 th Floor, Tel Aviv, Israel ... and Izhak Tamir to the Board of Directors; ... directors; , approval of an amendment to certain terms of options ...
(Date:11/24/2015)... ... November 24, 2015 , ... InSphero AG, the leading supplier of ... has promoted Melanie Aregger to serve as Chief Operating Officer. , Having ... management team and was promoted to Head of InSphero Diagnostics in 2014. ...
(Date:11/24/2015)... , Nov. 24, 2015 HemoShear ... on discovering drugs for metabolic disorders, announced today ... to its Board of Directors (BOD). Mr. Watkins ... of Human Genome Sciences (HGS), and also served ... Jim Powers , Chairman and CEO ...
Breaking Biology Technology: