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.

Scientists identify cause of double-cortex syndrome

Researchers at McGill University have discovered the cause of an inherited form of epilepsy. The disease, known as double-cortex syndrome, primarily affects females and arises from mutations on a gene located on the X chromosome. Drs. Susanne Bechstedt and Gary Brouhard of the Department of Biology have used a highly advanced microscope to discover how these mutations cause a malformation of the human brain.

22 Jun 2012

Six novel genetic associations for early onset male pattern baldness

Using data from its unique online research platform, 23andMe, a leading personal genetics company, has contributed to the finding of six novel genetic associations for early onset male pattern baldness (androgenetic alopecia) in a genome-wide association study now published online in the journal PLoS Genetics.

20 Jun 2012

Zebrafish provides insight into human melanoma

A transparent member of the minnow family is providing researchers at Weill Cornell Medical College in New York City with insight into human melanoma - a form of skin cancer - that may lead to new or repurposed drug treatments, for skin and other cancers.

19 Jun 2012

Updated data from ARIAD’s ponatinib pivotal trial on CML or Ph+ ALL

ARIAD Pharmaceuticals, Inc. today announced updated clinical data from the pivotal PACE trial of its investigational pan-BCR-ABL inhibitor, ponatinib, in patients with chronic myeloid leukaemia (CML) or Philadelphia-positive acute lymphoblastic leukaemia (Ph+ ALL), who are resistant or intolerant to dasatinib or nilotinib or who have the T315I mutation.

18 Jun 2012

Otsuka, Bristol-Myers Squibb announce six-year data from SPRYCEL Phase 3 trial on CP-CML

Bristol-Myers Squibb Company and Otsuka Pharmaceutical Europe Ltd., today announced six-year follow-up results from a Phase 3 randomised, open-label, dose-optimisation study of SPRYCEL (dasatinib) in Philadelphia chromosome-positive (Ph+) chronic-phase chronic myeloid leukaemia (CP-CML) adult patients resistant or intolerant to Glivec (imatinib).

16 Jun 2012

First U.S. population prevalence study of mutations in the gene that causes fragile X

The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene - and its associated health risks - may be more common than previously believed.

15 Jun 2012

Study finds gender pay disparity among physicians

Male doctors make more money than their female counterparts, even when factoring in medical specialty, title, work hours, productivity and a host of other factors, according to a comprehensive new analysis from researchers at the University of Michigan Health System and Duke University.

13 Jun 2012

Genes ‘choose only good eggs’ for IVF

Researchers have identified a technique that could help them “pick the right egg” for in vitro fertilization treatment.

8 Jun 2012

dSarm/Sarm1 gene promotes axon destruction after injury

Degeneration of the axon and synapse, the slender projection through which neurons transmit electrical impulses to neighboring cells, is a hallmark of some of the most crippling neurodegenerative and brain diseases such as amyotrophic lateral sclerosis (ALS), Huntington's disease and peripheral neuropathy.

8 Jun 2012

Study describes how seizures in people with AS could be linked to brain cell activity imbalance

New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental disorder.

7 Jun 2012

New region on the X chromosome plays a role in migraine

New hope has arrived for migraine sufferers following a Griffith University study with the people of Norfolk Island. Led by Professor Lyn Griffiths from the University's Griffith Health Institute, the team has identified a new region on the X chromosome as playing a role in migraine.

5 Jun 2012

Researchers identify chromosomal make-up of human eggs

In a groundbreaking study, Yale School of Medicine researchers and colleagues at the University of Oxford have identified the chromosomal make-up of a human egg. This discovery may soon allow them to avoid using abnormal - or aneuploid - eggs during infertility treatments, and instead to pick eggs that are healthy enough for a successful in vitro fertilization (IVF) cycle.

2 Jun 2012

Distinctive protein pathways in certain leukemia patients

Scientists at Rice University and the University of Texas MD Anderson Cancer Center have successfully profiled protein pathways found to be distinctive to leukemia patients with particular variants of the disease.

1 Jun 2012

Verinata Health to present two key studies on verifi prenatal test at ISPD conference

Verinata Health, Inc., a privately-held company dedicated to maternal and fetal health, today announced that physicians across the country are now using the verifi prenatal test.

1 Jun 2012

Gender link discovered for colorectal cancer

Researchers have identified three new colorectal cancer risk loci, including one on the X-chromosome, bringing the total number of independent loci associated with the disease to 20.

30 May 2012

JTCC to present latest findings in blood-cancer research at ASCO annual meeting

Physicians and researchers at John Theurer Cancer Center at HackensackUMC, one of the nation's top 50 cancer centers, will present the latest findings in blood-cancer research at the 2012 American Society of Clinical Oncology (ASCO) annual meeting in Chicago on June 1-5. Their involvement in these studies is part of John Theurer Cancer Center's continued focus to bolster its research program.

30 May 2012

Researchers uncover insights into rare genetic disorders

Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called cohesinopathies.

30 May 2012

Naphthalene exposure may increase risk of chromosomal aberrations in children

According to a new study, children exposed to high levels of the common air pollutant naphthalene are at increased risk for chromosomal aberrations (CAs), which have been previously associated with cancer. These include chromosomal translocations, a potentially more harmful and long-lasting subtype of CAs.

30 May 2012

CDKN1C gene mutation contributes to IMAGe syndrome

A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics.

28 May 2012

UCLA geneticists identify mutation responsible for IMAGe syndrome

UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, leading to very large children.

28 May 2012