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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.
Researchers discover genetic changes in MSH3 gene in patients with hereditary colon cancer

Researchers discover genetic changes in MSH3 gene in patients with hereditary colon cancer

The formation of large numbers of polyps in the colon has a high probability of developing into colon cancer, if left untreated. [More]
Study reveals insights into survival, surgical interventions for children with trisomy 13 and 18

Study reveals insights into survival, surgical interventions for children with trisomy 13 and 18

Among children born with the chromosome disorders trisomy 13 or 18 in Ontario, Canada, early death was the most common outcome, but 10 percent to 13 percent survived for 10 years, according to a study appearing in the July 26 issue of JAMA. [More]
Alterations in genomic region linked to risk of ASD have distinctive effects on cognition, study reports

Alterations in genomic region linked to risk of ASD have distinctive effects on cognition, study reports

A new study in Biological Psychiatry reports that variations in 16p11.2, a region of the genome associated with risk of autism spectrum disorder (ASD), have distinct effects on cognition. The findings highlight the diversity of people with ASD. [More]
Scientists explore black box of genome biology

Scientists explore black box of genome biology

Scientists at Florida State University, Baylor College of Medicine and the Broad Institute of Harvard and MIT have broken ground in a little-understood area of human genetics. [More]
UC Davis scientists show how cells control DNA synthesis in mitochondria

UC Davis scientists show how cells control DNA synthesis in mitochondria

Aging, neurodegenerative disorders and metabolic disease are all linked to mitochondria, structures within our cells that generate chemical energy and maintain their own DNA. In a fundamental discovery with far-reaching implications, scientists at the University of California, Davis, now show how cells control DNA synthesis in mitochondria and couple it to mitochondrial division. [More]
Gender matching may be beneficial to reduce risk of corneal transplant rejection and failure

Gender matching may be beneficial to reduce risk of corneal transplant rejection and failure

A study of patients undergoing corneal transplants indicates that subtle differences between men and women may lead to poorer outcomes for a woman who has received a cornea from a male donor. [More]
JAX researchers find precise, reliable way to identify leukemia cells of origin

JAX researchers find precise, reliable way to identify leukemia cells of origin

Every cancer starts with a single cell, and Jackson Laboratory researchers have found a precise and reliable way -- whole-genome profiling of open chromatin -- to identify the kind of cell that leads to a given case of leukemia, a valuable key to cancer prognosis and outcome. [More]
Study finds microRNA let-7 plays key role in restricting neuroblastoma

Study finds microRNA let-7 plays key role in restricting neuroblastoma

Great strides have been made in treating neuroblastoma, the most common cancer in infants and toddlers. However, advanced cases are often fatal, and children who survive often face life-long physical and intellectual challenges related to their treatment. [More]
Scientists discover X-chromosome-inherited type of osteogenesis imperfecta

Scientists discover X-chromosome-inherited type of osteogenesis imperfecta

Researchers from the University of Zurich and University Children's Hospital Zurich have discovered the first X-chromosome-inherited type of the congenital disease osteogenesis imperfecta, also known as brittle-bone disease. [More]
Researchers identify astroglia-mediated mechanism for causing FXS symptoms in mice

Researchers identify astroglia-mediated mechanism for causing FXS symptoms in mice

A study published today in the Journal of Neuroscience led by Yongjie Yang of Tufts University School of Medicine identifies an astroglial trigger mechanism as contributing to symptoms of fragile X syndrome in mice. [More]
LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

LouLou Foundation and the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania are pleased to announce the award of 11 new research grants into CDKL5 deficiency - a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures. [More]
Novel technique could help discover genes linked to complex traits in any animal model

Novel technique could help discover genes linked to complex traits in any animal model

Mice are one of the most commonly used laboratory organisms, widely used to study everything from autism to infectious diseases. Yet genomic studies in mice have lagged behind those in humans. [More]
Mitochondrial DNA levels may represent accurate, predictive measure of embryo viability in IVF

Mitochondrial DNA levels may represent accurate, predictive measure of embryo viability in IVF

Despite the claims and counter-claims for new embryo assessment techniques introduced over the past two decades, the search for the holy grail of assisted reproduction - the key to the embryo destined to implant - continues. [More]
Study links proteins involved in cell division to insulin signaling

Study links proteins involved in cell division to insulin signaling

Proteins that play key roles in the timing of cell division also moonlight in regulating blood sugar levels, UT Southwestern Medical Center researchers have found. [More]
Study sheds more light on how bacteria rapidly causes infectious diseases

Study sheds more light on how bacteria rapidly causes infectious diseases

Researchers at Umea University are first to discover that bacteria can multiply disease-inducing genes which are needed to rapidly cause infection. [More]
Scientists discover new way to predict risk for delayed recovery in children with AML

Scientists discover new way to predict risk for delayed recovery in children with AML

The chemotherapy treatments necessary to treat Acute Myeloid Leukemia (AML) in children can be grueling on the body, and can cause health-related complications during therapy, as well as long down the road after remission. [More]
Kataegis linked to better prognosis for breast cancer patients

Kataegis linked to better prognosis for breast cancer patients

Kataegis is a recently discovered phenomenon in which multiple mutations cluster in a few hotspots in a genome. The anomaly was previously found in some cancers, but it has been unclear what role kataegis plays in tumor development and patient outcomes. [More]
Researchers determine how Ki-67 protein disperses chromosomes in dividing cells

Researchers determine how Ki-67 protein disperses chromosomes in dividing cells

Billions of your cells divide every day. Cell division fuels growth and also replaces short-lived cells in some organs, like your skin, blood, and gut. [More]
Researchers reveal novel mechanism by which viral protein VII suppresses immune alarm signals

Researchers reveal novel mechanism by which viral protein VII suppresses immune alarm signals

Viruses must avoid a host's immune system to establish successful infections—and scientists have discovered another tool that viruses use to frustrate host defenses. [More]
Researchers identify set of genes that play vital role in early human development

Researchers identify set of genes that play vital role in early human development

Oxford University researchers are closer to solving a decade-old mystery after discovering that a set of genes they are studying play a key role in early human development. [More]
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