Chromosome 1 News and Research

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Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs. Chromosome 1 is the largest human chromosome, spanning about 247 million base pairs (the building blocks of DNA) and representing approximately 8 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 1 likely contains more than 3,000 genes.

Genes on chromosome 1 are among the estimated 20,000 to 25,000 total genes in the human genome.

New methodology helps investigate unfolding of DNA

NYU Langone Medical Center researchers have developed a powerful new method to investigate the discrete steps necessary to turn on individual genes and examine how the process goes wrong in cancer and other diseases. The finding, based on seven years of research and described in the April 9 issue of Molecular Cell, allows scientists to investigate the unfolding of DNA, a process required for gene activation.

9 Apr 2010

MDA, FFSHR award $200,000 grant for developing FSH dystrophy therapy

The Muscular Dystrophy Association (MDA), headquartered in Tucson, Ariz., and Friends of FSH Research (FFSHR), based in Kirkland, Wash., has jointly awarded a two-year, $200,000 grant to Dr. Joel Chamberlain, a research assistant professor of medical genetics at the University of Washington. The grant, equally funded by the two organizations, will enable the laboratory led by Dr. Chamberlain to study RNA interference as an investigative and therapeutic tool for facioscapulohumeral muscular dystrophy.

7 Apr 2010

Research may help scientists understand the mechanism behind cellular differentiation

Multipotent stem cells have the capacity to develop into different types of cells by reprogramming their DNA to turn on different combinations of genes, a process called "differentiation."

6 Apr 2010

"Mouse model" study finds LRRK2 gene mutation may cause inherited Parkinson's disease

2 Apr 2010

Variant of ATG16L1 gene associated with higher risk for Crohn's 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.

2 Apr 2010

Researchers identify link between genetic mutation and schizophrenia

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.

2 Apr 2010

Genetic risk factor for schizophrenia can disrupt connectivity at level of single neurons

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.

1 Apr 2010

Insight into how mutations in LRRK2 gene may cause familial Parkinson's disease

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.

1 Apr 2010

Plant-based system could help improve lives of hemophilic patients

Hemophilia, a disease linked with legends of European monarchs, frail heirs and one flamboyant charlatan called Rasputin, still afflicts many people today.

31 Mar 2010

Genetic instability in people with Fanconi anemia: New proteins in FA DNA repair pathway may help explain

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.

26 Mar 2010

Abnormality on chromosome 17 helps detect breast cancer tumour's response to anthracyclines

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.

26 Mar 2010

Hana Biosciences reports net loss of $5M for fourth quarter 2009

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.

26 Mar 2010

Ambry Genetics introduces a suite of genetic tests to pinpoint the cause of mental retardation

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).

24 Mar 2010

Protein deficiency in Down syndrome patients could contribute to cognitive impairment and congenital heart defects

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.

24 Mar 2010

Enzo Biochem announces supply and distribution agreement between Enzo Life Sciences and Cancer Genetics

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.

18 Mar 2010

Human amniotic fluid skin cells "reprogrammed" to pluripotency

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.

16 Mar 2010

Study: Chromosomal microarray analysis detects genetic changes related to ASDs better than standard tests

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.

15 Mar 2010

Chromosome 1 News and Research

Further Reading

New methodology helps investigate unfolding of DNA

MDA, FFSHR award $200,000 grant for developing FSH dystrophy therapy

Research may help scientists understand the mechanism behind cellular differentiation

"Mouse model" study finds LRRK2 gene mutation may cause inherited Parkinson's disease

Variant of ATG16L1 gene associated with higher risk for Crohn's disease

Researchers identify link between genetic mutation and schizophrenia

Genetic risk factor for schizophrenia can disrupt connectivity at level of single neurons

Insight into how mutations in LRRK2 gene may cause familial Parkinson's disease

Plant-based system could help improve lives of hemophilic patients

Genetic instability in people with Fanconi anemia: New proteins in FA DNA repair pathway may help explain

Abnormality on chromosome 17 helps detect breast cancer tumour's response to anthracyclines

Hana Biosciences reports net loss of $5M for fourth quarter 2009

Ambry Genetics introduces a suite of genetic tests to pinpoint the cause of mental retardation

Protein deficiency in Down syndrome patients could contribute to cognitive impairment and congenital heart defects

Enzo Biochem announces supply and distribution agreement between Enzo Life Sciences and Cancer Genetics

Human amniotic fluid skin cells "reprogrammed" to pluripotency

Study: Chromosomal microarray analysis detects genetic changes related to ASDs better than standard tests

Puzzle baffled scientists for centuries - why some birds appear to be half male and half female solved

Discovery of novel cellular mechanism may help develop new treatments for cancer

MBL scientists develop novel methods to interpret cellular dynamics

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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