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.

Variations in RANBP1 gene may disrupt brain signaling in neuropsychiatric conditions

Scientists have identified a gene that appears to play a significant role in raising a person's risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the chromosomal disorder 22q11.2 deletion syndrome.

20 Jan 2016

Researchers reveal totally new biological mechanism that underlies cancer

In a landmark study, researchers from the Broad Institute and Massachusetts General Hospital reveal a completely new biological mechanism that underlies cancer. By studying brain tumors that carry mutations in the isocitrate dehydrogenase (IDH) genes, the team uncovered some unusual changes in the instructions for how the genome folds up on itself.

13 Jan 2016

Researchers discover molecular target for DNA repair defects behind Fanconi anemia

Researchers have identified a molecular target and experimental treatment strategy for DNA repair defects behind Fanconi anemia – a complex genetic disorder responsible for birth anomalies, organ damage, anemia and cancer.

12 Jan 2016

U-M research could lead to new ways of fighting X-linked diseases in girls and women

Nearly every girl and woman on Earth carries two X chromosomes in nearly every one of her cells -- but one of them does (mostly) nothing. That's because it's been silenced, keeping most of its DNA locked up and unread like a book in a cage.

11 Jan 2016

DNA damage may lead to mutation and changes in cell

A team of researchers from Colorado State University has been studying DNA damage in living cells to learn more about how genetic abnormalities arise. It has long been known that DNA molecules in every cell get constantly damaged by things from the outside environment, like sunlight, cigarette smoke and radiation. However, more recently researchers have discovered that sources from within the cell itself can sometimes be even more damaging.

7 Jan 2016

Researchers link idiopathic congenital nystagmus to a defect in neurocomputation

Botond Roska and his group at the Friedrich Miescher Institute for Biomedical Research implicate a clearly defined neuron type and its circuit in the retina in the pathophysiology of idiopathic congenital nystagmus.

6 Jan 2016

Researchers successfully use CRISPR to treat adult mouse model of Duchenne muscular dystrophy

Researchers have used CRISPR to treat an adult mouse model of Duchenne muscular dystrophy. This marks the first time that CRISPR has successfully treated a genetic disease inside a fully developed living mammal with a strategy that has the potential to be translated to human therapy.

4 Jan 2016

Researchers identify inherited traits related to sleep, wake and activity cycles

In the first study of its kind, a team of international scientists led by UT Southwestern Medical Center and UCLA researchers have identified a dozen inherited traits related to sleep, wake, and activity cycles that are associated with severe bipolar disorder.

29 Dec 2015

Researchers identify new gene that helps maintain chromosome number in cells

Molecular biologists at UT Southwestern Medical Center have identified a gene called NORAD that helps maintain the proper number of chromosomes in cells, and that when inactivated, causes the number of chromosomes in a cell to become unstable, a key feature of cancer cells.

26 Dec 2015

3D maps of spatial organization may help find genes involved in hereditary diseases

It has now been 15 years since scientists celebrated the completion of the human genome. At that point, scientists had determined the entire sequence of the genetic letters making up our DNA.

26 Dec 2015

Researchers identify cause of rare syndrome consistent with Fanconi Anemia

An international team of researchers has established the cause of rare syndrome consistent with Fanconi Anemia: a de novo mutation in a so called RAD51 gene, which is responsible for repairing damages in the DNA.

23 Dec 2015

Mitochondrial variation and viable pregnancy: an interview with Dr Elpida Fragouli

Embryos require adequate amounts of energy so that they can successfully progress through each of their cell divisions.

16 Dec 2015

Report uncovers how Down syndrome hampers nervous system that plays key role in health, longevity

While most Down syndrome research has focused on the brain, a new report by Johns Hopkins University biologists uncovers how the disorder hampers a separate part of the nervous system that plays a key role in health and longevity.

14 Dec 2015

Whitehead researchers create 3D map to predict how genes are regulated in normal cells

Whitehead Institute researchers have created a map of the DNA loops that comprise the three dimensional (3D) structure of the human genome and regulate gene expression in human embryonic stem (ES) cells and adult cells. The location of genes and regulatory elements within this chromosomal framework could help scientists better navigate their genomic research, establishing relationships between mutations and disease development.

13 Dec 2015

TBK1 protein plays vital role in the process of cell division

Moffitt Cancer Center researchers have found that a protein called TBK1 plays an important role in the process of cell division, especially at a stage called mitosis.

11 Dec 2015

Marqibo now available to leukemia patients through myTomorrows' Internet-based platform

myTomorrows (Amsterdam, the Netherlands), announced today that it has started a collaboration with Spectrum Pharmaceuticals, Inc. (Henderson, USA) to provide access to its liposome-encapsulated vincristine for treatment of Philadelphia chromosome negative acute lymphoblastic leukemia.

10 Dec 2015

Textbook view of the human cell cycle needs to be revised, shows new Danish research

Ground-breaking new Danish research has shown that the current scientific description of the human cell cycle needs to be revised. These findings could also lead to the development of new therapeutic approaches to target an Achilles' heel in different types of cancers.

9 Dec 2015

Amgen’s Phase 2 data supports safety, efficacy of BLINCYTO in ALL patients with minimal residual disease

Amgen today announced that new data from three Phase 2 trials support the efficacy and safety of BLINCYTO (blinatumomab) in adults with acute lymphoblastic leukemia (ALL).

8 Dec 2015

New approaches to treating leukemia, lymphoma and myeloma

New, highly targeted treatment approaches for leukemia, lymphoma, and myeloma to be presented today at the 57th American Society of Hematology Annual Meeting and Exposition represent a tremendous expansion of oral and intravenous therapy options for patients with blood cancers.

7 Dec 2015

Gene therapy shows promise in children with Wiskott-Aldrich syndrome

Researchers reported promising preliminary outcomes for the first four children enrolled in a U.S. gene therapy trial for Wiskott-Aldrich syndrome (WAS), a life-threatening genetic blood and immune disorder, at the 57th annual meeting of the American Society of Hematology (abstract #260).