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In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure.

Chromosomes are not visible in the cell’s nucleus—not even under a microscope—when the cell is not dividing. However, the DNA that makes up chromosomes becomes more tightly packed during cell division and is then visible under a microscope. Most of what researchers know about chromosomes was learned by observing chromosomes during cell division.

Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or “arms.” The short arm of the chromosome is labeled the “p arm.” The long arm of the chromosome is labeled the “q arm.” The location of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes.
Study reveals link between genomic instability, aneuploidy and cancer

Study reveals link between genomic instability, aneuploidy and cancer

A recent analysis of 43,205 human tumours unveiled that 68% of solid tumours are aneuploid, that is to say, they have an altered number of chromosomes. In recent years, scientists have attempted to clarify whether this aneuploidy contributes to tumour development or whether it is a co-lateral effect of the genomic instability of cancer cells, which increase the rate of mutations and the likelihood of cancer. [More]
Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL

Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL

A research team led by St. Jude Children's Research Hospital scientists has discovered details of how the abnormal breakage and rearrangement of chromosomes in white blood cells triggers a particularly aggressive form of acute lymphoblastic leukemia (ALL). Such leukemias are cancers of white blood cells, in which genetic mutations trigger overproduction of immature cells, called lymphoblasts. [More]
LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

LouLou Foundation, Penn Med set up Program of Excellence to develop treatments for children with CDKL5

The London-based LouLou Foundation and the Orphan Disease Center of the Perelman School of Medicine at the University of Pennsylvania have established a Program of Excellence to develop effective treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures. [More]
Researchers identify new targets that may help prevent and cure colon cancer

Researchers identify new targets that may help prevent and cure colon cancer

When the audio on your television set or smart phone is too loud, you simply turn down the volume. What if we could do the same for the signaling in our bodies that essentially causes normal cells to turn cancerous? New discoveries by researchers at the Stephenson Cancer Center at the University of Oklahoma may point to new ways to do just that. [More]
New gene cut-and-paste methods help correct disease-causing mutation in animal model

New gene cut-and-paste methods help correct disease-causing mutation in animal model

For the first time, researchers have treated an animal model of a genetic disorder using a viral vector to deliver genome-editing components in which the disease- causing mutation has been corrected. [More]
Two studies shed new light on nature of tandem DNA repeat arrays

Two studies shed new light on nature of tandem DNA repeat arrays

A pair of studies by a team of scientists has shed new light on the nature of a particular type of DNA sequences—tandem DNA repeat arrays—that play important roles in transcription control, genome organization, and development. [More]
Scientists find how APOBEC protein becomes dangerous when DNA replication process goes wrong

Scientists find how APOBEC protein becomes dangerous when DNA replication process goes wrong

Cancer is caused by the growth of an abnormal cell which harbours DNA mutations, "copy errors" occurring during the DNA replication process. If these errors do take place quite regularly without having any damaging effect on the organism, some of them affect a specific part of the genome and cause the proliferation of the mutant cell, which then invades the organism. [More]
Study provides evidence for use of inherited genetic markers to improve melanoma prognostication

Study provides evidence for use of inherited genetic markers to improve melanoma prognostication

Melanoma is the most dangerous and lethal form of skin cancer. But just how long will a patient survive following the removal of a melanoma tumor? A more definitive answer to that question could come from new studies at NYU Langone Medical Center and its Laura and Isaac Perlmutter Cancer Center. Researchers there have discovered an inherited genetic marker that might provide clinicians with a personalized tool to gauge an individual's survival and determine which patients require closer monitoring in the years following surgery. [More]
UC Berkeley researchers make major improvement in CRISPR-Cas9 gene editing technology

UC Berkeley researchers make major improvement in CRISPR-Cas9 gene editing technology

University of California, Berkeley, researchers have made a major improvement in CRISPR-Cas9 technology that achieves an unprecedented success rate of 60 percent when replacing a short stretch of DNA with another. [More]
Variations in RANBP1 gene may disrupt brain signaling in neuropsychiatric conditions

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. [More]
Researchers reveal totally new biological mechanism that underlies cancer

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. [More]
Researchers discover molecular target for DNA repair defects behind Fanconi anemia

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

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. [More]
DNA damage may lead to mutation and changes in cell

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. [More]
Researchers link idiopathic congenital nystagmus to a defect in neurocomputation

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. [More]
Newly discovered mechanism may help explain why some embryos not useful for fertility treatments

Newly discovered mechanism may help explain why some embryos not useful for fertility treatments

It's the dream of many infertile couples: to have a baby. Tens of thousands of children are born by in vitro fertilization, or IVF, a technique commonly used when nature doesn't take its course. However, embryos obtained when a sperm fertilizes an egg in a test tube often have defects. [More]
Researchers successfully use CRISPR to treat adult mouse model of Duchenne muscular dystrophy

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. [More]
Researchers identify inherited traits related to sleep, wake and activity cycles

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. [More]
Researchers identify new gene that helps maintain chromosome number in cells

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. [More]
3D maps of spatial organization may help find genes involved in hereditary diseases

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. [More]
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