Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs. Chromosome 12 spans about 132 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 12 likely contains between 1,200 and 1,400 genes.
Genes on chromosome 12 are among the estimated 20,000 to 25,000 total genes in the human genome.
The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers).
LncRNAs are long non-coding RNAs that are emerging as important regulators of gene expression in biological processes and diseases. In this issue of the Journal of Clinical Investigation, two papers connect lncRNAs to inherited conditions in humans.
An analysis from the METASTROKE collaboration confirms an increased stroke risk associated with four previously reported genetic loci and shows that these are specific to certain stroke subtypes.
An analysis from the METASTROKE collaboration confirms an increased stroke risk associated with four previously reported genetic loci and shows that these are specific to certain stroke subtypes.
When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic components such as irritable bowel syndrome. Researchers in Norway, India, and at the HudsonAlpha Institute for Biotechnology have identified one heritable DNA mutation that leads to chronic diarrhea and bowel inflammation.
Researchers at the Intermountain Medical Center Heart Institute in Salt Lake City have identified the first genetic mutation ever associated with a mysterious and potentially devastating form of heart disease that affects women in the final weeks of pregnancy or the first few months after delivery.
Max Planck scientists uncover surprising genetic links. Scientists from the Max Planck Institute for Psychiatry in Munich have compared the genomes of a total of 4,088 patients and 11,001 healthy control subjects from all over the world and identified a new risk gene variant for depression.
Research work carried out at the Hebrew University of Jerusalem arouses a cautionary warning in the growing field of the development of stem cells as a means for future treatment of patients through replacement of diseased or damaged tissues by using the patient's own stem cells. The research indicates a possible danger of cancerous tissue development in the use of such cells.
Ryogen LLC, a genomic research and development company focusing on genes with applications in biomedical research, has been awarded two additional patents on human genes.
Some people find quinine to be bitter while others can drink it like water. Now, scientists from the Monell Center and collaborators report that individual differences in how people experience quinine's bitterness are related to underlying differences in their genes.The findings, published online in the journal Human Molecular Genetics, demonstrate that genetic variation in regions of DNA that encode bitter taste receptors predicts a person's perception of bitterness from quinine.
Scientists may be one step closer to being able to generate any type of cells and tissues from a patient's own cells. In a study that will appear in the journal Nature and is receiving early online release, investigators from the Massachusetts General Hospital Center for Regenerative Medicine (MGH-CRM) and the Harvard Stem Cell Institute (HSCI), describe finding that an important cluster of genes is inactivated in induced pluripotent stem cells (iPSCs) that do not have the full development potential of embryonic stem cells.
Millions of people have a genetic variant linked to increased risk of ischemic stroke, reports an international research team including scientists at The University of Texas Health Science Center at Houston in a study published online by The New England Journal of Medicine on April 15.
Pat Phalin learned she had hearing loss at 30, when she volunteered to give hearing tests at her local school. The pupils heard sounds she could not hear.
Large, seemingly useless pieces of RNA - a molecule originally considered only a lowly messenger for DNA - play an important role in letting cells know where they are in the body and what they are supposed to become, researchers at Stanford University School of Medicine have discovered.
A mutant gene that starves the brain of serotonin, a mood-regulating chemical messenger, has been discovered and found to be 10 times more prevalent in depressed patients than in control subjects, report researchers funded by the National Institutes of Health’s National Institute of Mental Health (NIMH) and National Heart Lung and Blood Institute (NHLBI).
A team of researchers at Mayo Clinic in Jacksonville, Fla. and colleagues in Canada and Germany have discovered a gene and six mutations of it that cause symptoms associated with Parkinson's disease and other neurodegenerative disorders.
An international research team, led by scientists at the National Institute on Aging (NIA), has discovered a gene, which when mutated, causes Parkinson's disease in some families.
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