Chromosome 4 News and Research

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Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from each parent, form one of the pairs. Chromosome 4 spans more than 191 million DNA building blocks (base pairs) and represents more than 6 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 4 likely contains between 1,300 and 1,600 genes.

Genes on chromosome 4 are among the estimated 20,000 to 25,000 total genes in the human genome.

MTHFD1L gene may increase risk of developing late-onset Alzheimer's disease

Researchers have identified a gene that appears to increase a person's risk of developing late-onset Alzheimer's disease, the most common form of the disease. The gene, abbreviated as MTHFD1L, is on chromosome six, and was identified in a genome-wide association study.

24 Sep 2010

Asthma linked to seven genetic variants: Study

In a new study seven genes linked to asthma have been discovered. For the research genetic variations of 10,365 people with asthma and 16,110 people without the condition was studied. The variants identified showed an association with childhood asthma and some were also associated with later-onset asthma.

24 Sep 2010

Novartis applauds declaration of CML Awareness Day in Canada

Today is a meaningful milestone for chronic myelogenous leukemia (CML) patients and their families.

23 Sep 2010

Telomere length associated with higher rate of relapse and lower overall survival in aplastic anemia patients

Among patients receiving immunosuppressive therapy for severe aplastic anemia (a condition in which the bone marrow is unable to produce blood cells), the length of telomeres (chromosome markers of biological aging) was not related to the response to treatment but was associated with a higher rate of relapse (return to low blood cell counts) and lower overall survival, according to a study in the September 22/29 issue of JAMA.

22 Sep 2010

Biomarkers may help predict children at high risk of developing type 2 diabetes

Children who have a high risk of developing type 2 diabetes might be identified earlier by way of tell-tale genetic indicators known as biomarkers. Some of those new biomarkers might be pinpointed in research led by Nancy F. Butte and funded by the U.S. Department of Agriculture (USDA) and the U.S. Department of Health and Human Service's National Institutes of Health.

20 Sep 2010

BRCA1 gene mutation increases breast cancer risk: Research

Individuals with disrupting mutations in the BRCA1 gene are known to be at substantially increased risk of breast cancer throughout their lives. Now, discoveries from an international research team led by Mayo Clinic researchers show that some of those persons may possess additional genetic variants that modify their risk. These new findings enhancing individualized medicine appear in the current Nature Genetics.

20 Sep 2010

Scientists discover new genetic variants, pave way for early detection of ovarian cancer

An international consortium of scientists has discovered new genetic variants in five regions of the genome that affect the risk of ovarian cancer in the general population, according to two separate studies published today (Sunday), online in Nature Genetics.

20 Sep 2010

Penn study reveals structure of cell division's key molecule

On average, one hundred billion cells in the human body divide over the course of a day. Most of the time the body gets it right but sometimes, problems in cell replication can lead to abnormalities in chromosomes resulting in many types of disorders, from cancer to Down Syndrome.

18 Sep 2010

Wistar Institute scientists publish detailed report on structure, function of Cdc13 domain in protein

Scientists at The Wistar Institute have published the first detailed report on the structure and function of a crucial domain in the protein known as Cdc13, which sustains telomeres by clamping to DNA and recruiting replicating enzymes to the area.

16 Sep 2010

Researchers find clue behind ASD affecting males than females

New research from the Centre for Addiction and Mental Health (CAMH) and The Hospital for Sick Children (SickKids), both in Toronto, Canada provides further clues as to why Autism Spectrum Disorder (ASD) affects four times more males than females. The scientists discovered that males who carry specific alterations of DNA on the sole X-chromosome they carry are at high risk of developing ASD. The research is published in the September 15 issue of Science Translational Medicine.

16 Sep 2010

Scientists discover SNP association with primary open-angle glaucoma risk

Scientists at deCODE genetics and academic colleagues from Iceland, China, Sweden, the UK and Australia today report the discovery of the most important single-letter variation (SNP) in the sequence of the human genome yet associated with risk of primary open-angle glaucoma. This is the most common form of glaucoma and a major cause of blindness worldwide.

13 Sep 2010

UK researchers discover new tactic used by cancer cells to cheat death

Cancer Research UK scientists have uncovered a new strategy that could be used by cancer cells to side step the body's normal safety checks and become immortal a key step for a cancer cell according to a study published in Nature today (Thursday).

10 Sep 2010

Major contributing factor to maternal age-associated increase in aneuploidy identified

University of Pennsylvania biologists studying human reproduction have identified what is likely the major contributing factor to the maternal age-associated increase in aneuploidy, the term for an abnormal number of chromosomes during reproductive cell division.

9 Sep 2010

Researchers find minocycline antibiotics effective for fragile X syndrome

One of the antibiotics most commonly prescribed to treat adolescent acne can increase attention spans and communication and decrease anxiety in patients with fragile X syndrome, the most common inherited cause of mental impairment, according to a new survey study that is the first published on parents' reports of their children's responses to treatment with the medication.

9 Sep 2010

Researchers unveil protection mechanism of telomeres from DNA repair

In the latest issue of the journal Nature, Miguel Godinho Ferreira, Principal Investigator at the Instituto Gulbenkian de Ciência (IGC) in Portugal, lead a team of researchers to shed light on a paradox that has puzzled biologists since the discovery of telomeres, the protective tips of chromosomes: while broken chromosome ends generated by DNA damage (such as radiation or cigarette smoke) are quickly joined together, telomeres are never tied to each other, thus allowing for the correct segregation of the genetic material into all cells in our body.

9 Sep 2010

New insight into abnormalities in cancer cells

A basic requirement for growth and life of a multicellular organism is the ability of its cells to divide. Chromosomes in the cells duplicate and are then distributed among the daughter cells. This distribution is organized by a protein complex made up of several hundred different proteins, called the centrosome. In cancer cells, the centrosome often assumes an unnatural shape or is present in uncontrolled numbers. The reasons for this were previously largely unknown.

4 Sep 2010

Research on iPS cells can imply potential cell therapy for X-linked disorders

Female induced pluripotent stem (iPS) cells, reprogrammed from human skin cells into cells that have the embryonic-like potential to become any cell in the body, retain an inactive X chromosome, stem cell researchers at UCLA have found.

4 Sep 2010

Researchers develop new animal model for studying hemophilia A

Researchers at Yale School of Medicine have developed a new animal model for studying hemophilia A, with the goal of eventually treating people with the disorder.

3 Sep 2010

First direct evidence that X-linked TLR7 gene promotes lupus in humans

Lupus Research Institute-funded researcher Betty Tsao, PhD, at the University of California Los Angeles has discovered that humans-males in particular-with a variant form of the immune receptor gene "Toll Like Receptor 7 (TLR7)" are at increased risk of developing the autoimmune disease systemic lupus erythematosus (lupus). This breakthrough finding offers renewed hope for developing more targeted treatments.

3 Sep 2010

Simple protocol for determining Gross Chromosomal Rearrangement mutation rates

A cell devotes a significant amount of effort to maintaining the stability of its genome, preventing the sorts of chromosomal rearrangements characteristic of many cancers. Assays that measure the rate of gross chromosomal rearrangements (GCRs) are needed in order to understand the individual genes and the different pathways that suppress genomic instability.

3 Sep 2010