Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs. Chromosome 6 spans about 171 million base pairs (the building blocks of DNA) and represents between 5.5 percent and 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 6 likely contains between 1,100 and 1,600 genes.
Genes on chromosome 6 are among the estimated 20,000 to 25,000 total genes in the human genome.
Using new one-of-a-kind "mouse models" that promise to have a significant impact on future Parkinson's disease research, Mount Sinai School of Medicine researchers are among the first to discover how mutations in a gene called LRRK2 may cause inherited (or "familial") Parkinson's disease, the most common form of the disease.
The ATG16L1 gene is located on chromosome 2 and encodes a protein involved in the formation of autophagosomes during autophagy. Autophagy is a cytoplasmic process that keeps a cell stable. Hampe et al first identified ATG16L1 as a Crohn's disease (CD) susceptibility gene in 2007, and many other studies have arisen since then. However, the definite relationship of variants of ATG16L1 with IBD remains unclear.
In what may provide the most compelling evidence to date, researchers at Columbia University Medical Center have illuminated how a genetic variant may lead to schizophrenia by causing a disruption in communication between the hippocampus and prefrontal cortex regions of the brain, areas believed to be responsible for carrying out working memory.
The strongest known recurrent genetic cause of schizophrenia impairs communications between the brain's decision-making and memory hubs, resulting in working memory deficits, according to a study in mice.
Using new one-of-a-kind "mouse models" that promise to have a significant impact on future Parkinson's disease research, Mount Sinai School of Medicine researchers are among the first to discover how mutations in a gene called LRRK2 may cause inherited (or "familial") Parkinson's disease, the most common form of the disease. The study, published in The Journal of Neuroscience, is the first in vivo evidence that LRRK2 regulates dopamine transmission and controls motor performance, and that the mutation of LRRK2 eliminates the normal function of LRRK2, leading to Parkinson's disease.
Hemophilia, a disease linked with legends of European monarchs, frail heirs and one flamboyant charlatan called Rasputin, still afflicts many people today.
Identification of two new proteins in the Fanconi anemia DNA repair pathway may help explain genetic instability in people with Fanconi anemia and how otherwise healthy people are susceptible to cancer from environmentally triggered DNA damage.
British researchers have discovered a new way of detecting which breast cancer patients are going to respond best to chemotherapy that includes anthracycline antibiotics. The study has found that an abnormality on chromosome 17, called CEP17, is not only associated with a worse outcome for patients, but also that its presence is a highly significant indicator that the tumour will respond to anthracyclines. The research will be presented at the European Breast Cancer Conference (EBCC7) Thursday 25th March.
Hana Biosciences Inc., a biopharmaceutical company focused on strengthening the foundation of cancer care, today reported financial results for the fourth quarter and year ended December 31, 2009, and provided a corporate update.
Ambry Genetics today introduced The Ambry X-Linked Mental Retardation SuperPANEL™, a suite of genetic tests expected to pinpoint the cause of intellectual disability and X-linked mental retardation (XLMR).
Conventional wisdom among scientists for years has suggested that because individuals with Down syndrome have an extra chromosome, the disorder most likely results from the presence of too many genes or proteins contained in that additional structure.
Enzo Biochem, Inc., a vertically integrated biotechnology company engaged in the research, development, manufacture, licensing and marketing of innovative health care products, platforms and services based on molecular and cellular technologies, announced today a supply and distribution agreement between Enzo Life Sciences and privately-owned Cancer Genetics Inc., a leading producer of nucleic acid products used in genomic research.
In a breakthrough that may help fill a critical need in stem cell research and patient care, researchers at Mount Sinai School of Medicine have demonstrated that skin cells found in human amniotic fluid can be efficiently "reprogrammed" to pluripotency, where they have characteristics similar to human embryonic stem cells that can develop into almost any type of cell in the human body. The study is online now and will appear in print in the next issue of the journal Cellular Reprogramming, to be published next month.
A large study from Children's Hospital Boston and the Boston-based Autism Consortium finds that a genetic test that samples the entire genome, known as chromosomal microarray analysis, has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests. Publishing in the April issue of Pediatrics (and online March 15), the authors urge that CMA become part of the first-line genetic work-up for ASDs.
A puzzle that has baffled scientists for centuries - why some birds appear to be male on one side of the body and female on the other - has been solved by researchers.
A research team led by the University of Colorado at Boulder has discovered a previously unknown cellular "switch" that may provide researchers with a new means of triggering programmed cell death, findings with implications for treating cancer.
If you can imagine identical twin sisters at rest, their breath drawing them subtly together and apart, who somehow latch onto ropes that pull them to opposite sides of the bed-you can imagine what happens to a chromosome in the dividing cell.
Researchers from four laboratories that perform diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities recently identified a previously unrecognized genetic disorder.
Individuals with a certain type of genetic susceptibility to lung cancer face a greatly increased risk for the deadly disease with even a small exposure to cigarette smoke, a study team that includes researchers from the University of Cincinnati has concluded.
Human herpesvirus 6 (HHV-6) infects nearly 100 percent of humans in early childhood, and the infection then lasts for the rest of a person's life. Now, a team led by Peter Medveczky, MD, a professor in the Department of Molecular Medicine at the University of South Florida, has discovered that in some individuals, HHV-6 causes such a permanent infection by inserting or "integrating" its DNA into human chromosomes.
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