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Scientists at the National Institute of Health (NIH)-[The Human Genome Project] have achieved 99% of high quality sequence of the human genome with 99.99% accuracy (April 2003).

A working draft sequence of the human genome has already been done by scientists at The Human Genome Project at NIH and Celera Genomics (6/27/2001).

(The above information was adapted from the Human Genome Project Information page).

About 97% of the Human Genome does not produce any protein. The non-coding pieces of DNA are known as introns. Only 3% of the DNA (about 30,000 to 40,000 genes) will code for proteins. The coding pieces of DNA are known as exons, since they produce proteins.

Other News

Source- HealthDay News

1/18/13

Genes Changes in Alzheimer's Is Seen in Infants

A new study has shown that certain gene variants linked to Alzheimer's disease, schizophrenia and autism can be found in brain scans of infants.

The DNA of 272 infants was screened for 10 variants in seven genes associated with neurological disorders. The variation in APOE (apolipoprotein E) gene that is associated with Alzheimer's disease was very similar to the brain changes in the infants with the same variants.

According to researchers, the prenatal brain development may influence psychiatric risk later in life.

This research was done at the University of North Carolina School of Medicine and the study was published in Cerebral Cortex journal.

Source- Sciencenews.org 

11/05/12

Effect of Rare Variants and Population Growth

Through the 1000 Genomes Project, scientists have recently discovered that humans carry far more rare genetic variants (a variant is a gene that is the same as another, except for mutational differences) than estimated. Scientists looked at the DNA samples from 1092 people in 14 different populations around the world. The researchers found 38 million single DNA unit changes known as SNPs (single nucleotide polymorphism-a variation in a single nucleotide). Many of these SNPs are found in less than 0.5% of the people tested. According to Nancy Cox, a scientist at the University of Chicago, human population growth has been ‘superexponential’. Interestingly, evolution has not had time to act against some of the newest variants.

Many scientists believe that these variations affect health and disease risk.  On average, each person carries between 76 to 190 of these rare variants, plus up to 20 more that either inactivate a protein, or stop making it or have already been linked with a disease. Moreover, variants were found in parts of the genome that control gene activity. Each person carries around 700 to 900 variants. According to researchers, since the rare variants tend to be new, they are usually restricted in geographic or ethnic distribution. For health concerns, doctors may eventually need to consider an individual’s heritage. The study is reported in the November 1 Nature issue.

Source- Science Dailey

8/29/12

A Single Gene is Involved in Horses and Mice Gaits

Researchers found a single gene that controls gaits in horses and mice. The DMRT3 gene explains the genetic difference between pacers and non-pacers.

The gene is expressed in neurons involved in coordinating movements. A single base change in DMRT3 resulted in the production of a truncated form of the DMRT3 protein which is associated with pacing in horses. According to the researchers' interpretation, the mutation inhibits the transition from trot to gallop and allows the horse to trot at very high speed.

The scientists also found that knockout mice lacking a functional DMRT3 gene, have a changed pattern of movement. The DMRT3-neurons have a direct connection with motor neurons that control flexor and extensor muscles.

According to researcher, Klas Kullander, DMRT3 protein is found in all vertebrates and may play a central role for coordinating movements in humans.

This study is published in the prestigious journal Nature.

Source- Science News

4/26/12

DNA Tracks Ancient Mediterranean Farmers to Scandinavia

DNA taken from 5,000 year old skeletons found in Sweden show that farmers from the south interbred with hunter-gatherers from the north.

Pieces of DNA from ancient farmer's remains buried in Sweden were similar to those found in people now living in Greece and Cyprus. However, genes taken from bones of three hunter-gatherers in Sweden's coast contains genes that are close to native Finns.

Scientists agree that farming originated about 11,000 years ago in the Middle East and reached Europe around 7,000 years ago. DNA links between ancient Swedish farmer and nearby hunter-gatherers show that agriculture spread across Europe with the help of genetic and cultural exchanges.

Source- Science Daily

1/24/12

Improving Crops by Manipulating their Roots

Researchers have discovered that they can change root growth in the plant known as Arabidopsis thaliana, or thale cress, by controlling a regulatory protein.

Scientists changed levels of the protein known as transcription factor WRKY23 in plants and analyzed its effect on root development to demonstrate that it controls important chemicals called flavonols. Changes in levels of flavonols affected the distribution of auxin, a plant hormone that controls many important aspects of development, and resulted in impaired root growth.

The results of these experiments can help researchers produce new plants that are economically valuable, with improved root system that enables them to resist environmental changes which may lead to plant damage or poor yield of crops. Also, it may help protect plants from parasite attacks during the early stages of plant growth.

Source- GEN News Highlights

4/20/11

mRNA Blocks Insulin Function in Obese Mice

Scientists at the Max Planck Institute for Neurological Research and the CECAD found that micro RNA (miRNA) plays an important role in blocking insulin function in obese mice.

The researchers looked at normal weight mice and obese mice with type 2 diabetes. The obese mice produced more than twice as much miRNA-143 in their livers than the normal mice. In addition, they found that the concentration of protein ORP8 in the obese mice was low. In normal mice, ORP8 stimulates insulin to activate enzyme AKT, which reduces the sugar content in the blood. When ORP8 is lacking, insulin’s function is disrupted, and the AKT remains inactive.

Scientists are trying to determine why obese mice have higher than normal levels of miRNA-143. The discovery of the signaling paths in the cells that lead to miRNA-143 production may lead to development of new drugs for the treatment of type 2 diabetes.

This study was published online on March 27 in Nature Cell Biology.

Source- MedicalNewsToday.com

2/27/11

The King's Speech Movie AND Stuttering

The King's Speech movie is a story about King George VI of England's problem with stuttering - a speech disorder- and how he overcomes it with the help of a speech therapist. Scientists have recently identified specific genetic changes associated with stuttering.

Stuttering tends to run in families and researchers identified mutations in a gene known as GNPTAB in the affected family members. GNPTAB gene give cells instructions for making an enzyme that helps break down recycling cellular components. Two other genes associated with GNPTAB had mutations in family members who stuttered but not in the control group.

About 9% of people who stutter have mutations in one of the three genes. A better understanding of how these mutations may affect structures within the brain that influences speech will help with future therapies.

The study was published in The New England Journal of Medicine.

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