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.

Studies provide first clues of balanced de novo chromosomal rearrangements

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco.

8 Nov 2012

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety -- but not intelligence -- is linked to poorer adaptive behaviors, such as self-care and communication skills, that affect daily life. The developmental syndrome, which is associated with a constellation of physical, cognitive and psychiatric problems, usually is apparent at birth or early childhood, and leads to lifelong challenges.

6 Nov 2012

Dysregulation of CISTR-ACT causes brachydactyly type E

The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers).

6 Nov 2012

Pfizer receives FDA approval for Synribo to treat chronic myelogenous leukemia

The U.S. Food and Drug Administration today approved Synribo (omacetaxine mepesuccinate) to treat adults with chronic myelogenous leukemia (CML), a blood and bone marrow disease.

29 Oct 2012

FDA accepts ARIAD’s ponatinib NDA for filing

ARIAD Pharmaceuticals, Inc. today announced that the U.S. Food and Drug Administration (FDA) has accepted for filing the New Drug Application (NDA) for accelerated review of ARIAD's investigational BCR-ABL inhibitor, ponatinib, in patients with resistant or intolerant chronic myeloid leukemia (CML) or Philadelphia-chromosome positive acute lymphoblastic leukemia (Ph+ ALL).

25 Oct 2012

Two papers connect lncRNAs to inherited conditions in humans

LncRNAs are long non-coding RNAs that are emerging as important regulators of gene expression in biological processes and diseases. In this issue of the Journal of Clinical Investigation, two papers connect lncRNAs to inherited conditions in humans.

25 Oct 2012

Paper details new target for anti-cancer drug development

In a new paper released today in Nature, BioFrontiers Institute scientists at the University of Colorado Boulder, Tom Cech and Leslie Leinwand, detailed a new target for anti-cancer drug development that is sitting at the ends of our DNA.

25 Oct 2012

Lipid droplets play an unexpected role in embryo development

Histones are proteins needed to assemble DNA molecules into chromosomes. They have long represented a classic balancing act in biology; too few histone molecules result in DNA damage, while too many histones are toxic to the cell. New research at the University of Rochester is causing a fundamental shift in the concept of histone balance and the mechanism behind it.

19 Oct 2012

METASTROKE refines genetic stroke culprits

An analysis from the METASTROKE collaboration confirms an increased stroke risk associated with four previously reported genetic loci and shows that these are specific to certain stroke subtypes.

15 Oct 2012

Chromosome 3p21.1 locus contains common genetic risk for bipolar disorder

One of the biggest challenges in psychiatric genetics has been to replicate findings across large studies. Scientists at King's College London, Institute of Psychiatry have now performed one of the largest ever genetic replication studies of bipolar affective disorder, with 28,000 subjects recruited from 36 different research centers. Their findings provide compelling evidence that the chromosome 3p21.1 locus contains a common genetic risk for bipolar disorder, the PBRM1 gene.

15 Oct 2012

METASTROKE refines genetic stroke culprits

An analysis from the METASTROKE collaboration confirms an increased stroke risk associated with four previously reported genetic loci and shows that these are specific to certain stroke subtypes.

12 Oct 2012

Brown University, UCI researchers create Drosophila fruit fly model of epilepsy

In a newly reported set of experiments that show the value of a particularly precise but difficult genetic engineering technique, researchers at Brown University and the University of California-Irvine have created a Drosophila fruit fly model of epilepsy to discern the mechanism by which temperature-dependent seizures happen.

12 Oct 2012

NRG1 gene plays an important role in cannabis dependence

A paper by Shizhong Han and colleagues in the current issue of Biological Psychiatry implicates a new gene in the risk for cannabis dependence. This gene, NRG1, codes for the ErbB4 receptor, a protein implicated in synaptic development and function.

12 Oct 2012

Genetic basis of uterine fibroids uncovered

A mutation located near the fatty acid synthase gene is associated with an increased predisposition for uterine leiomyomata or fibroids, suggest US study findings.

8 Oct 2012

BUSM leads genome-wide evaluation of genetic variants associated with Parkinson's disease

Boston University School of Medicine investigators have led the first genome-wide evaluation of genetic variants associated with Parkinson's disease (PD). The study, which is published online in PLOS ONE, points to the involvement of specific genes and alterations in their expression as influencing the risk for developing PD.

6 Oct 2012

Ketamine can help improve brain function in Rett syndrome mice

A promising study out today in the prestigious Journal of Neurosciences showed that in a mouse model of Rett syndrome, researchers were able to reverse abnormalities in brain activity and improve neurological function by treating the animals with an FDA-approved anesthesia drug, ketamine.

4 Oct 2012

CIB2 gene responsible for progression and severity of Usher syndrome

Usher syndrome is a hereditary disease in which affected individuals lose both hearing and vision. The impact of Usher syndrome can be devastating. In the United States, approximately six in every 100,000 babies born have Usher syndrome.

2 Oct 2012

First report to study clonal population of maxillary sinus carcinoma

Knowing how tumors evolve can lead to new treatments that could help prevent cancer from recurring, according to a study published today by the Translational Genomics Research Institute (TGen) and Scottsdale Healthcare.

29 Sep 2012

The Genealogy Event to discuss scientific breakthroughs in human genomic study

Scientific breakthroughs in the study of the human genome coupled with online access to massive genealogical records have opened the doors of ancestral investigation to include all those interested in unearthing their roots and, on October 26-27 at the Metropolitan Pavilion in New York City, The Genealogy Event will feature exciting learning opportunities and resources for both novice and professional enthusiasts.

28 Sep 2012

Teva concludes Asset Transfer Agreement with NeuroSearch

Teva Pharmaceutical Industries Ltd announced today that it has concluded an Asset Transfer Agreement with NeuroSearch A/S of Denmark to purchase all rights, assets and obligations relating to Huntexil (pridopidine / ACR16), a drug candidate being developed for the symptomatic treatment of hand movement, balance and gait disturbances in Huntington disease (HD).

28 Sep 2012