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 (6/27/00).

(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- medicalnewstoday.com 

5/15/09 

A Diabetes Drug that Works on Genes that Control Glucose

Scientists at Johns Hopkins Children's Center found that the known diabetes type 2 drug, Metformin, regulates genes that control sugar levels.

They found that a protein called CBP is involved in communications between the liver and the pancreas in maintaining normal level of glucose. Over-production of sugar is suppressed by insulin, a hormone made in the pancreas. Metformin mimics CBP's action.

To test their theory, researchers fed mice with high-fat diets in order to make them diabetic (insulin resistance). Their high glucose level did not go down until they were treated with metformin. Furthermore, the CBP levels in these mice after treatment went up to the levels as non-diabetic mice and their blood became normal. When the diabetic mice were given copies of defective CBP, the drug did not have an affect. This was proof that metformin worked directly on CBP.

This discovery will be important for development of therapies for individuals affected by diabetes. Since CBP is also involved in growth and development of many processes in the body, it may help scientists treat other conditions such as cancer, infertility and stunt growth.

This study was recently published in Cell.

Source- Yahoo News

3/24/09 

Gene Mutations Linked to Sudden Heart Failure

Scientists found ten genetic mutations associated with sudden cardiac arrest. These mutations affect the timing of heart contractions which is known as "QT interval".

An international team screened almost 16,000 people who had QT intervals measured by electrocardiogram. The scientists analyzed 2.5 million sites on each genome to match small changes in gene sequence associated with abnormal QT intervals. A gene, Nos 1asp, known to contribute to heart problems, as well as several other genes were identified in the study.

A single mutation does not necessarily mean a higher risk of irregular heartbeat, but when all the genes are taken together, the risk becomes significant.

Source- Science Dailey

1/24/09 

Genetically Altered Fruit Fly Live Longer

Scientists at Brown University found earlier that a mutation in the Indy (I am not dead yet) gene in fruit flies is responsible for extending their life span by decreasing free radicals which are a cellular byproduct that contribute to cancer and aging. The fruit fly's life was extended from 35 days to 70 days.

Recently, the researchers studies the differences in changes between the fruity flies with the Indy mutation and normal flies throughout their life-span. Comparing the expression of genes they found that those involved in generating the power necessary for a normal life span were expressed at lower levels in the Indy flies.

Having lower level of expression led to a decrease level in free radicals but did not decrease the amount of energy in the cell. Future therapies that can reduce  free radicals may help extend life in humans.

Source- New Scientist

11/26/08 

Possible Pre-Natal Treatment for Down’s Syndrome

Recent experiments in mice with syndrome similar to Down’s raise hope for pregnant woman who carry a Down’s syndrome child.

Researchers at the National Institutes of Health in Bethesda, Maryland, injected nerve-protecting peptides known as NAP and SAL into mice pregnant with trisomic (extra copy of chromosome 16) pups.  After birth, the pups reached developmental milestones at the same time as normal mice.  Their brains showed normal levels of ADNP, which is one of the regulatory proteins known to be under-produced by Down’s syndrome affected glial cells. Previous studies both of people with Down’s and trisomic mice have revealed malfunctions in glial cells.  These cells release ADNP and other proteins that are important in regulating the development of neurons. 

The scientists are continuing with their studies to see if the treated mice exhibit normal learning behavior as they mature.

There is a cautious optimism among the scientists, since many successful studies in mice fail in human studies.

Source- Guardian.co.uk (Ian Sample)

10/15/08 

Scientists uncover new gene link to male pattern baldness

Researchers have discovered genetic regions that are associated with male baldness. They tested more than 1,000 bald men and found two genetic regions that when activated makes a person increased the likelihood of baldness by seven times. Genetic factors accounts for at least 80% of baldness.

There is already a known gene located on the female X chromosome and is passed from mother to son. The second gene region that was discovered by the new study will give researchers the first hint on how baldness is passed from father to son. The study showed that one or more genes located on chromosome 20 are involved in male baldness.

The two teams that discovered the new genes are from King's College London and Bonn University in Germany.

Hair loss in males occurs mostly from an increase of a chemical known as dihydroestosterone which makes hair follicles produce thinner hair until the follicles falls off. Hair loss can be caused by other changes in body such as iron deficiency, stress, scalp infections or underactive thyroid.

Source- AAAS News

9/11/08 

How Much Is That Baldie in the Window?

http://www.newsguide.us/education/science/How-Much-Is-That-Baldie-in-the-Window/

Source- ScienceDaily

8/25/08

Targeting ICMT Enzyme in Blood Cancers Treatments

RAS proteins regulate cell growth and cell division in all cells.  The enzyme, ICMT, helps RAS proteins get anchored to the cell membrane so that they can do their work. A team of researchers in Sahlgrenska Academy at Gothenburg University in Sweden developed a genetically modified mouse that produces a mutated and constantly active RAS protein in its bone marrow.  These mice develop leukemia, which is very similar to that in humans.  When the scientists inhibited the production of ICMT in these mice, the uncontrolled growth of bone marow cells was blocked and the cancer declined.  The researchers also showed that mice with an aggressive form of lung cancer lived longer and their tumors were much smaller when ICMT was blocked. These findings show promise in developing drugs that can effectively inhibit the enzyme.

Source- ScienceDaily 

6/17/08

DNA Knot Keeps Viral Genes Tightly Corked Inside Shell.

Click Here

Source- ScienceDailey

4/23/08

Gene Expression of the Immune System linked to the Environment

Geneticists at North Carolina State University studied the gene expression of white blood cells in 46 Moroccan Amazighs (or Berbers) who were desert nomads, mountain farmers, or coastal urban inhabitants.  They looked at the expression of all 23, 000 human genes between the three groups.  These groups have similar genetic makeup, but lead different lifestyles and live in different geographical domains. The researchers found that one third of their genes differentially expressed according to where and how the group lived.

The scientists found specific genes and pathways that are affected by lifestyle and geography.  For example, the respiratory genes were up regulated more often in the group that dwelled in the cities than those who lived in the desert or the rural mountains.  This was not surprising since, according to the scientists, city dwellers deal with more pollution and, therefore, more problems with asthma and bronchitis.

The researchers conclude that the environment must be considered when studying links between genes and diseases.

Source- United Press International

4/8/08

Many Genes Linked to Height

Researchers in England have identified 20 regions in the human genome that influence a person's height.

The study helps scientists understand better how the body grows and develops normally and also might shed light on bone diseases and cancer.

Ninety percent of normal variations in height is due to genes and not environmental factors such as in obesity. The number and variety of genetic regions show height is not just caused by a small number of genes found in the long bones but they are involved in other biological processes.

Source- genengnews.com

1/6/08

Cancer Risk is Affected by Gene Copy Number

Researchers from Johns Hopkins and Ohio State University have demonstrated in a mouse model that the number of copies of a specific gene affects colon cancer. The scientists mated mice with trisomic genes (extra copy of chromosome 21 found in Down Syndrome- with the extra 108 genes) with mice that carry a mutation that causes tumors in the intestines. The progeny had 44% fewer intestinal tumors compared to the colon cancer mice. The researchers also used another mouse model with extra copies of 33 genes on chromosome 21 and mated them with mice that have the tumor. Mice that had three copies of the 33 genes had half the number of tumors compared to the mice with the two copies.

The studies showed that over expression of the affected gene may  repress the tumor.

The study was published in the January 3 issue of Nature.