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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.
Preimplantation genetic screening using next generation sequencing: an interview with Dr Luis Alcaraz

Preimplantation genetic screening using next generation sequencing: an interview with Dr Luis Alcaraz

PGS, Preimplantation Genetic Screening, is a genetic test that analyses biopsied cells from embryos produced by in vitro fertilization (IVF) techniques. PGS determines whether the embryos are chromosomally normal (euploid) or not (aneuploid), thus giving the chance to transfer chromosomally normal embryos that are more apt to successfully implant and develop into a pregnancy. [More]
Scientists move a step closer to translating BubR1 protein's function into potential cancer therapy

Scientists move a step closer to translating BubR1 protein's function into potential cancer therapy

In a paper published recently in the journal eLife, Mayo Clinic scientists take a step toward translating the protein BubR1's function into a potential therapy for cancer. [More]
NIH researchers discover rare, lethal inflammatory disease that affects young children

NIH researchers discover rare, lethal inflammatory disease that affects young children

National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. They have also identified anti-inflammatory treatments that ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. [More]
Nobel laureate-led study uses new technology to watch interaction between telomerase and telomeres

Nobel laureate-led study uses new technology to watch interaction between telomerase and telomeres

As the rope of a chromosomes replicates, it frays at the ends. No problem: A chromosome's ends have extra twine so that fraying doesn't reach into the body of the rope where the important information resides. [More]
Study reveals crucial role of TERRA in preservation of telomeres

Study reveals crucial role of TERRA in preservation of telomeres

Despite their especially compact structure that is difficult to access, telomeres transcribe information like the rest of the DNA. [More]
Study offers clues about how genetic mutations can increase risk of psychiatric disorders

Study offers clues about how genetic mutations can increase risk of psychiatric disorders

Brain scans have revealed how a genetic mutation linked to major psychiatric disorders affects the structure, function and chemistry of the brain. [More]
New study uncovers how chromosomal changes impact tumor formation and growth

New study uncovers how chromosomal changes impact tumor formation and growth

As with most cancers, triple-negative breast cancer (TNBC) cells have abnormal amounts of chromosomes or DNA copy number aberrations (CNAs) in their genomes. [More]
New model of Williams syndrome may shed light on neurobiology of the human social brain

New model of Williams syndrome may shed light on neurobiology of the human social brain

In a study spanning molecular genetics, stem cells and the sciences of both brain and behavior, researchers at University of California San Diego, with colleagues at the Salk Institute for Biological Studies and elsewhere, have created a neurodevelopmental model of a rare genetic disorder that may provide new insights into the underlying neurobiology of the human social brain. [More]
New disease gene linked to shortened telomeres appears to raise risk of pulmonary fibrosis-emphysema

New disease gene linked to shortened telomeres appears to raise risk of pulmonary fibrosis-emphysema

Johns Hopkins researchers say they have identified a new disease gene that, when mutated, appears to increase the risk in a small number of people of developing emphysema and a lung-scarring condition known as pulmonary fibrosis. [More]
Geneticists identify enzyme that regulates chromosome segregation during meiosis

Geneticists identify enzyme that regulates chromosome segregation during meiosis

GENETICISTS have identified an enzyme which regulates the production of sperm and egg cells in human reproduction. [More]
New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

Natera, Inc., a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, applauds the new guidelines just released by the American College of Medical Genetics and Genomics, supporting the use of non-invasive prenatal tests (NIPT/NIPS) as an optimal, initial option to screen for specific genetic conditions, such as Trisomy 21 (Down syndrome) during pregnancy. [More]
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]
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