Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 11, one copy inherited from each parent, form one of the pairs. Chromosome 11 spans about 134 million DNA building blocks (base pairs) and represents between 4 percent and 4.5 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 11 likely contains about 1,500 genes. More than 150 of these genes provide instructions for making olfactory receptors, which are proteins that are used to detect different smells.
Genes on chromosome 11 are among the estimated 20,000 to 25,000 total genes in the human genome.
An international research collaboration led by Massachusetts General Hospital investigators has identified the first gene in which mutations cause the common form of mitral valve prolapse (MVP), a heart valve disorder that affects almost 2.5 percent of the population.
In an advance that could lead to better identification of malignant pediatric adrenocortical tumors, and ultimately to better treatment, researchers have mapped the "genomic landscape" of these rare childhood tumors. Their genomic mapping has revealed unprecedented details, not only of the aberrant genetic and chromosomal changes that drive the cancer, but the sequence of those changes that trigger it.
A University of Colorado Cancer Center study published in the journal PLoS One finds alterations in expression of genes PIK3R3 and PTEN, more commonly observed in adult tumors, in the rare, young-adult bone cancer Ewing Sarcoma, potentially offering ways to improve therapy.
The genetic abnormality that drives the bone cancer Ewing sarcoma operates through two distinct processes - both activating genes that stimulate tumor growth and suppressing those that should keep cancer from developing. These findings by Massachusetts General Hospital investigators, published in the November issue of Cancer Cell, may lead to new therapies targeting these aberrant mechanisms.
The functional organization of the central nervous system depends upon a precise architecture and connectivity of distinct types of neurons.
The St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project has identified the most common genetic alteration ever reported in the brain tumor ependymoma and evidence that the alteration drives tumor development. The research appears February 19 as an advanced online publication in the scientific journal Nature.
The American Society of Clinical Oncology today announced it will confer one of its highest awards on pediatric oncologist Garrett M. Brodeur, M.D., of the Cancer Center at The Children's Hospital of Philadelphia.
World-renowned scientists are taking what they've learned from their multicenter research collaboration studying the health impact of fatty acids on diverse populations to set up a genetics center in India.
Epizyme, Inc., a company leading the creation of a new class of personalized therapeutics for patients with genetically defined cancers, announced today that it has initiated a Phase 1 Study of EPZ-5676. EPZ-5676 is a novel small molecule inhibitor of DOT1L, a histone methyltransferase (HMT) that is critical to the development of a specific type of acute leukemia defined by rearrangement of the MLL gene (MLL-r leukemia).
Ewing's sarcoma is a bone cancer commonly diagnosed in about 250 U.S. teenagers per year. If early chemotherapy is effective, improvement can be durable. But for children and teens who respond poorly to a first attempt at chemotherapy or if the disease spreads, long-term survival can be less than 10 percent.
A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics.
UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, leading to very large children.
Scientists have shown for the first time that one of the sex chromosomes is involved in the development of a cancer that can afflict both genders, according to a Cancer Research UK-funded study in Nature Genetics.
The genomic analysis technologies enable the study of genetic factors related to numerous diseases. In few areas this researches brought such a big and useful volume of information as in the case of melanoma.
A difficult-to-treat form of childhood leukemia relies on changes in the structure of DNA - so-called epigenetic changes - to wreak genomic havoc within white blood cells, according to one of two studies conducted by a research team at Children's Hospital Boston and Dana-Farber Cancer Institute.
Over the past decade, much progress has been made regarding the understanding and promise of personalized medicine. Scientists are just beginning to consider the impact of gene-diet interactions in different populations in regards to disease prevention and treatment.
Recently the number of genes known to be associated with Alzheimer's disease has increased from four to eight, including the MS4A gene cluster on chromosome 11.
A team of international researchers, including Case Western Reserve University School of Medicine, have discovered regions of the genome that affect the severity of the genetic disease cystic fibrosis, the most common lethal genetic disease affecting children in North America.
Johns Hopkins Institute for Genetic Medicine researchers working as part of the North American Cystic Fibrosis Consortium have discovered two regions of the genome that affect the severity of cystic fibrosis, a genetic condition that causes scarring throughout the body, affecting most notably the pancreas and lungs.
Pediatric cancer researchers have identified variations in a gene as important contributors to neuroblastoma, the most common solid cancer of early childhood. The study team, led by researchers at The Children's Hospital of Philadelphia, found that common variants in the LMO1 gene increase the risk of developing an aggressive form of neuroblastoma, and also mark the gene for continuing to drive the cancer's progression once it forms.
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