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.

Human genetics expert wins 2014 Basser Global Prize for BRCA-related research

Twenty years after the first identification of the BRCA1 gene, the University of Pennsylvania's Basser Research Center for BRCA will honor the geneticist credited with its founding with the second annual Basser Global Prize.

13 Aug 2014

Schizophrenia-linked genetic variations and the developing brain: an interview with Prof. Guo-li Ming

How much is currently known about what happens in the developing brain that puts people at risk of schizophrenia?

11 Aug 2014

Avillion initiates BOSULIF Phase 3 trial in patients with chronic phase Ph+ CML

Avillion LLP, a co-developer of late-stage pharmaceutical assets, announces that the first patients have been dosed in the United States in a global Phase 3 clinical trial called "BFORE," which is designed to assess the effectiveness and safety of BOSULIF (bosutinib) as a first-line treatment for patients with chronic phase Philadelphia chromosome positive (Ph+) chronic myelogenous leukemia (CML). The first patient was dosed on July 22, 2014.

11 Aug 2014

Scientists identify mechanism by which inherited neurological disease causes muscle weakness in men

Researchers at University of California, San Diego School of Medicine have identified the mechanism by which a rare, inherited neurodegenerative disease causes often crippling muscle weakness in men, in addition to reduced fertility.

11 Aug 2014

Scientists solve key mystery in cancer research

A chance meeting between two leading UK and US scientists could have finally helped solve a key mystery in cancer research.

8 Aug 2014

Biomarker for head and neck cancers identified

Although mutations in a gene dubbed "the guardian of the genome" are widely recognized as being associated with more aggressive forms of cancer, researchers at the University of California, San Diego School of Medicine have found evidence suggesting that the deleterious health effects of the mutated gene may in large part be due to other genetic abnormalities, at least in squamous cell head and neck cancers.

4 Aug 2014

Researchers identify RNA that modulates action of important gene in process of programmed cell death

Researchers from the University of S-o Paulo (USP) have identified an RNA known as INXS that, although containing no instructions for the production of a protein, modulates the action of an important gene in the process of apoptosis, or programmed cell death.

31 Jul 2014

Discovery could lead to development of new cancer therapies

DNA mutations-long known to fuel cancer as well as evolutionary changes in a living organism-had been thought to be rare events that occur randomly throughout the genome.

31 Jul 2014

Study: Socialization emerges as relative strength in boys with fragile X

Standard scores measuring "adaptive behavior" in boys with fragile X syndrome tend to decline during childhood and adolescence, the largest longitudinal study of the inherited disorder to date has found.

30 Jul 2014

FDA approves use of Imbruvica to treat patients with chronic lymphocytic leukemia

The U.S. Food and Drug Administration today expanded the approved use of Imbruvica (ibrutinib) to treat patients with chronic lymphocytic leukemia (CLL) who carry a deletion in chromosome 17 (17p deletion), which is associated with poor responses to standard treatment for CLL. Imbruvica received a breakthrough therapy designation for this use.

29 Jul 2014

Researchers confirm for the first time that achalasia is autoimmune in origin

Achalasia is a rare disease - it affects 1 in 100,000 people - characterized by a loss of nerve cells in the esophageal wall.

29 Jul 2014

Understanding how some cells in the brain and nervous system turn cancerous

Scientists from the Sloan-Kettering Institute for Cancer Research in New York with the help of Plymouth University Peninsula Schools of Medicine and Dentistry have completed research which for the first time brings us nearer to understanding how some cells in the brain and nervous system become cancerous.

23 Jul 2014

First diagnostic criteria proposed for Christianson Syndrome

Because the severe autism-like condition Christianson Syndrome was only first reported in 1999 and some symptoms take more than a decade to appear, families and doctors urgently need fundamental information about it. A new study that doubles the number of cases now documented in the scientific literature provides the most definitive characterization of CS to date.

22 Jul 2014

Researchers identify group of cells in brain that plays important role in Down syndrome

Researchers from UC Davis School of Medicine and Shriners Hospitals for Children - Northern California have identified a group of cells in the brain that they say plays an important role in the abnormal neuron development in Down syndrome.

21 Jul 2014

IWGSC publishes draft sequence of bread wheat genome

The International Wheat Genome Sequencing Consortium (IWGSC) published today in the international journal Science a draft sequence of the bread wheat genome.

18 Jul 2014

Research reveals why HIV remains a long-lasting infection

HIV, the virus that causes AIDS, has the ability to integrate into the human genome, making it extremely difficult to cure the infection. A new study by scientists at Seattle Children's Research Institute, University of Washington and Fred Hutchinson Cancer Research Center found that when HIV integrates into genes involved with cancer, these cells tend to reproduce to a greater extent than others HIV-infected cells.

16 Jul 2014

NIH-funded study identifies genetic markers associated with eosinophilic esophagitis

Scientists funded by the National Institutes of Health have identified genetic markers associated with eosinophilic esophagitis (EoE), an inflammatory disease characterized by high levels of immune cells called eosinophils in the esophagus.

15 Jul 2014

High-resolution, high-throughput pre-implantation genetic screening microarray launched by OGT

Oxford Gene Technology (OGT), The Molecular Genetics Company, has announced the launch of a new high-resolution, high-throughput pre-implantation genetic screening (PGS) microarray aimed at improving embryo screening for in vitro fertilisation (IVF). The CytoSure™ Embryo Screen Array offers eight arrays of 60,000 spots for high-resolution genome-wide aneuploidy and copy number detection in pre-implantation embryos.

From Oxford Gene Technology 8 Jul 2014

Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Lysosomes are subcellular organelles that are present in most cells, with the major exception of red blood cells.

8 Jul 2014

Leading hypothesis for miscarriages, birth defects ruled out by WSU reproductive biologists

Washington State University reproductive biologists have ruled out one of the leading thoughts on why older women have an increased risk of miscarriages and children with birth defects.

4 Jul 2014

Chromosome X News and Research

Further Reading

Human genetics expert wins 2014 Basser Global Prize for BRCA-related research

Schizophrenia-linked genetic variations and the developing brain: an interview with Prof. Guo-li Ming

Avillion initiates BOSULIF Phase 3 trial in patients with chronic phase Ph+ CML

Scientists identify mechanism by which inherited neurological disease causes muscle weakness in men

Scientists solve key mystery in cancer research

Biomarker for head and neck cancers identified

Researchers identify RNA that modulates action of important gene in process of programmed cell death

Discovery could lead to development of new cancer therapies

Study: Socialization emerges as relative strength in boys with fragile X

FDA approves use of Imbruvica to treat patients with chronic lymphocytic leukemia

Researchers confirm for the first time that achalasia is autoimmune in origin

Understanding how some cells in the brain and nervous system turn cancerous

First diagnostic criteria proposed for Christianson Syndrome

Researchers identify group of cells in brain that plays important role in Down syndrome

IWGSC publishes draft sequence of bread wheat genome

Research reveals why HIV remains a long-lasting infection

NIH-funded study identifies genetic markers associated with eosinophilic esophagitis

High-resolution, high-throughput pre-implantation genetic screening microarray launched by OGT

Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Leading hypothesis for miscarriages, birth defects ruled out by WSU reproductive biologists

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