Chromosome X News and Research

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The X chromosome is one of the two sex chromosomes in humans (the other is the Y chromosome). The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. The X chromosome spans about 155 million base pairs (the building blocks of DNA) and represents approximately 5 percent of the total DNA in cells.

Each person normally has one pair of sex chromosomes in each cell. Females have two X chromosomes, while males have one X and one Y chromosome. Early in embryonic development in females, one of the two X chromosomes is randomly and permanently inactivated in somatic cells (cells other than egg and sperm cells). This phenomenon is called X-inactivation or Lyonization. X-inactivation ensures that females, like males, have one functional copy of the X chromosome in each body cell. Because X-inactivation is random, in normal females the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells.

Some genes on the X chromosome escape X-inactivation. These genes are located at the tip of the short (p) arm of the X chromosome in an area known as the pseudoautosomal region. Although many genes are unique to the X or Y chromosome, genes in the pseudoautosomal region are present on both chromosomes. As a result, men and women each have two functional copies of these genes. Many genes in the pseudoautosomal region are essential for normal development.

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. The X chromosome likely contains between 900 and 1,400 genes.

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

Rhythm announces initiation of two setmelanotide Phase 2 trials for treatment of PWS, POMC-null obesity

Rhythm announced today the initiation of two Phase 2 clinical trials focused on evaluating the safety and effectiveness of setmelanotide (RM-493), the company's novel melanocortin 4 receptor (MC4R) agonist, for the treatment of Prader-Willi Syndrome (PWS) and POMC-null obesity.

4 Jun 2015

Liverpool scientists complete genomics studies on multidrug resistant Typhoid fever in Africa

The team has completed two genomics studies on the tropical disease, a condition that is estimated to cause up to 30 million illnesses and over a quarter of a million deaths globally each year.

27 May 2015

Mayo Clinic scientists create mouse model of ALS, FTD caused by mutations in C9ORF72 gene

Scientists at Mayo Clinic, Jacksonville, Florida created a novel mouse that exhibits the symptoms and neurodegeneration associated with the most common genetic forms of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease), both of which are caused by a mutation in the a gene called C9ORF72.

24 May 2015

Researchers uncover mechanism behind common mutation that helps cancer cells replicate limitlessly

More than 500,000 people in the United States die each year of cancer-related causes. Now, emerging research has identified the mechanism behind one of the most common mutations that help cancer cells replicate limitlessly.

19 May 2015

Researchers discover how and where chromosome fragile sites occur in human DNA

Using a novel method they developed to map chromosome breaks in a model organism, the budding yeast, Wenyi Feng, Ph.D., of Upstate Medical University and her colleagues have discovered new information as to how and where chromosome fragile sites can occur in human DNA. These sites are frequently observed in cancer cells and are responsible for causing genomic rearrangements.

15 May 2015

CNIO researchers identify new strategy to combat cancer

Scientists from the Spanish National Cancer Research Centre have discovered a new strategy to fight cancer, which is very different from those described to date. Their work shows for the first time that telomeres -- the structures protecting the ends of the chromosomes -- may represent an effective anti-cancer target: by blocking the TRF1 gene, which is essential for the telomeres, they have shown dramatic improvements in mice with lung cancer.

14 May 2015

TGen-led study associates 'X-linked' syndromes to genetic origins

A study led by the Translational Genomics Research Institute has for the first time matched dozens of infantile diseases and syndromes involving muscle weakness and stiff joints to their likely genetic origins.

14 May 2015

Researchers identify three genes involved in choroid plexus carcinoma

Researchers have identified three genes that play a pivotal role in the brain tumor choroid plexus carcinoma (CPC), a discovery that lays the groundwork for more effective treatment of this rare, often fatal cancer. St. Jude Children's Research Hospital scientists led the study, which appears today in the journal Cancer Cell.

12 May 2015

MD Anderson researchers discover link between telomere degeneration and MDS

A study revealing fresh insight about chromosome "tails" called telomeres may provide scientists with a new way to look at developing treatments or even preventing a group of blood cell disorders known as myelodysplastic syndromes (MDS).

12 May 2015

Leicester research team identifies potential new targets for cancer treatments

An international consortium of scientists led by a group from the University of Leicester has announced a new advance in understanding the mechanisms of cancer and how to target it more effectively with new treatments...

12 May 2015

Study highlights potential new targets for development of novel cancer therapy

12 May 2015

Scientists identify gene that causes hereditary hypertension and brachydactyly type E

Individuals with this altered gene have hereditary hypertension (high blood pressure) and at the same time a skeletal malformation called brachydactyly type E, which is characterized by unusually short fingers and toes. The effect on blood pressure is so serious that -- if left untreated -- it most often leads to death before age fifty.

11 May 2015

Overexpression of cyclin E protein could lead to breast cancer, leukemia

A new study led by scientists at The Scripps Research Institute sheds light on the cause of some cancers, including breast cancer and leukemia.

8 May 2015

AbbVie's venetoclax granted FDA Breakthrough Therapy Designation for CLL patients with 17p deletion

AbbVie today announced its investigational medicine venetoclax, an inhibitor of the B-cell lymphoma-2 (BCL-2) protein that is being developed in partnership with Genentech and Roche, has been granted Breakthrough Therapy Designation by the FDA for the treatment of chronic lymphocytic leukemia (CLL) in previously treated (relapsed/refractory) patients with the 17p deletion genetic mutation.

6 May 2015

New understanding of how Huntington's disease gene works

Huntington's disease is caused by a mutation in the Huntington's disease gene, but it has long been a mystery why some people with the exact same mutation get the disease more severely and earlier than others. A closer look at the DNA around the Huntington's disease (HD) gene offers researchers a new understanding of how the gene is controlled and how this affects the disease.

5 May 2015

Findings provide glimmer of hope for treating diffuse intrinsic pontine gliomas

Using brain tumor samples collected from children in the United States and Europe, an international team of scientists found that the drug panobinostat and similar gene regulating drugs may be effective at treating diffuse intrinsic pontine gliomas (DIPG), an aggressive and lethal form of pediatric cancer.

5 May 2015

New method could help scientists spot source of disease-causing mutations in enhancers

A new technique that identifies how genes are controlled could help scientists spot errors in the genetic code which trigger disease, a study suggests.

25 Apr 2015

Natera, LifeLabs sign new agreement for non-invasive prenatal testing in Canada

Natera, Inc., a global leader in non-invasive genetic testing, and LifeLabs Medical Laboratory Services today announced a new agreement that gives LifeLabs the rights to perform non-invasive prenatal testing (NIPT) in Canada using Natera technology.

From Natera 25 Apr 2015

Case Western Reserve and MIT receive $1.7 million to explore potential treatments for Down syndrome

Thanks to the generosity of a philanthropy dedicated to children's issues, renowned Down syndrome researcher Alberto Costa, MD, PhD, has taken yet another step toward making Northeast Ohio the nation's leader in exploring potential treatments of the genetic condition that affects 400,000 people in the U.S.

23 Apr 2015

Scientists find genetic link between autism and prodigy

Researchers have uncovered the first evidence of a genetic link between prodigy and autism. The scientists found that child prodigies in their sample share some of the same genetic variations with people who have autism.

23 Apr 2015

Chromosome X News and Research

Further Reading

Rhythm announces initiation of two setmelanotide Phase 2 trials for treatment of PWS, POMC-null obesity

Liverpool scientists complete genomics studies on multidrug resistant Typhoid fever in Africa

Mayo Clinic scientists create mouse model of ALS, FTD caused by mutations in C9ORF72 gene

Researchers uncover mechanism behind common mutation that helps cancer cells replicate limitlessly

Researchers discover how and where chromosome fragile sites occur in human DNA

CNIO researchers identify new strategy to combat cancer

TGen-led study associates 'X-linked' syndromes to genetic origins

Researchers identify three genes involved in choroid plexus carcinoma

MD Anderson researchers discover link between telomere degeneration and MDS

Leicester research team identifies potential new targets for cancer treatments

Study highlights potential new targets for development of novel cancer therapy

Scientists identify gene that causes hereditary hypertension and brachydactyly type E

Overexpression of cyclin E protein could lead to breast cancer, leukemia

AbbVie's venetoclax granted FDA Breakthrough Therapy Designation for CLL patients with 17p deletion

New understanding of how Huntington's disease gene works

Findings provide glimmer of hope for treating diffuse intrinsic pontine gliomas

New method could help scientists spot source of disease-causing mutations in enhancers

Natera, LifeLabs sign new agreement for non-invasive prenatal testing in Canada

Case Western Reserve and MIT receive $1.7 million to explore potential treatments for Down syndrome

Scientists find genetic link between autism and prodigy

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