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.

Findings set the stage for identifying potential new drug targets, treatment strategies for AML

nvestigators for The Cancer Genome Atlas Research Network have detailed and broadly classified the genomic alterations that frequently underlie the development of acute myeloid leukemia, a deadly cancer of the blood and bone marrow.

2 May 2013

Details about genomic landscapes of AML and endometrial cancer revealed

Two studies from The Cancer Genome Atlas program reveal details about the genomic landscapes of acute myeloid leukemia and endometrial cancer.

2 May 2013

MRSA circulation among children greatest in hospitals

The hospital environment remains the most common source of methicillin-resistant Staphylococcus aureus bacteria, show results from a systematic review and meta-analysis looking at nasal colonization in different groups of children.

29 Apr 2013

Study identifies gene variants associated with histological features of NAFLD

More patients could be diagnosed earlier with non-alcoholic fatty liver disease after a cohort study presented at the International Liver Congress 2013 identified variants within four genes significantly associated with the histological features of the disease.

24 Apr 2013

Discovery reverses the prevailing model of how dividing cells monitor equal distribution of chromosomes

Ludwig researchers Arshad Desai and Christopher Campbell, a post-doctoral fellow in his laboratory, were conducting an experiment to parse the molecular details of cell division about three years ago, when they engineered a mutant yeast cell as a control that, in theory, had no chance of surviving. Apparently unaware of this, the mutant thrived.

22 Apr 2013

Indiana researcher uses OMX light microscope to image mitosis process

Like a pair of dancers sheathed in blue, two chromosomes take the cell's center stage in this scene from the elegant—and usually perfectly performed—process of mitosis.

22 Apr 2013

Researchers find new potential target for anti-telomerase cancer therapy

Researchers at UT Southwestern Medical Center have found that alternative splicing - a process that allows a single gene to code for multiple proteins - appears to be a new potential target for anti-telomerase cancer therapy.

20 Apr 2013

Three MGH projects named among Top 10 Clinical Research Achievements of 2012

Three projects led by Massachusetts General Hospital investigators have been named among the Clinical Research Forum's Top 10 Clinical Research Achievements of 2012.

19 Apr 2013

North American scientists chart new territory in immunity research

Cracking the DNA code for a complex region of the human genome has helped 14 North American scientists, including five at Simon Fraser University, chart new territory in immunity research.

19 Apr 2013

Researchers find potential new genetic chemotherapy approach for cancer treatment

Researchers at The Jackson Laboratory have identified a molecule that prevents repair of some cancer cells, providing a potential new "genetic chemotherapy" approach to cancer treatment that could significantly reduce side effects and the development of treatment resistance compared with traditional chemotherapy.

18 Apr 2013

UCLA researchers classify kidney cancer into several unique subtypes

Researchers with the Institute of Urologic Oncology and the Department of Urology at UCLA have classified kidney cancer into several unique subtypes, a finding that will help physicians tailor treatment to individual patients and that moves cancer care one step closer to personalized medicine.

17 Apr 2013

Research suggests fainting may be genetic while certain triggers may not be inherited

New research suggests that fainting may be genetic and, in some families, only one gene may be responsible. However, a predisposition to certain triggers, such as emotional distress or the sight of blood, may not be inherited.

16 Apr 2013

High levels of blood cholesterol increase risk of AD and heart disease

Researchers at the Linda Crnic Institute for Down Syndrome and the University of Colorado School of Medicine have found that a single mechanism may underlie the damaging effect of cholesterol on the brain and on blood vessels.

16 Apr 2013

Modulation of cerebral endocannabinoid system may help treat Fragile X chromosome syndrome

Researchers at the University of the Basque Country (UPV/EHU) and the Achucarro neurosciences centre have discovered a new therapy for the fragile X chromosome syndrome. This new therapy proposes the modulation of the cerebral endocannabinoid system in order to ameliorate the symptoms of the disease.

11 Apr 2013

FDA grants Breakthrough Therapy Designation for ibrutinib as monotherapy for CLL patients

Pharmacyclics, Inc. announced today that the U.S. Food and Drug Administration has granted an additional Breakthrough Therapy Designation for the investigational oral agent ibrutinib as monotherapy for the treatment of chronic lymphocytic leukemia or small lymphocytic lymphoma patients with deletion of the short arm of chromosome 17 (deletion 17p).

8 Apr 2013

Gene behind Vel blood group discovered

Researchers have uncovered the gene at the root of a human blood group that has remained a mystery for the past 60 years. They showed that a genetic deletion on this gene is responsible for the lack of this blood group in some people.

8 Apr 2013

Fruit fly study offers clues to wound healing

A person's skin and a fruit fly's exoskeleton, called a "cuticle" may not look alike, but both coverings protect against injury, infection, and dehydration.

6 Apr 2013

Researchers diagnose genetic disease in embryonic DNA without biopsy

Preimplantation genetic diagnosis (PGD) technologies allow identification of genetic disorders in human preimplantation embryos after in vitro fertilization (IVF) and before the embryo is transferred back to the patient.

3 Apr 2013

Researchers focus on understanding mechanistic, physiological aspects of conflicts in living cells

Bacteria appear to speed up their evolution by positioning specific genes along the route of expected traffic jams in DNA encoding. Certain genes are in prime collision paths for the moving molecular machineries that read the DNA code, as University of Washington scientists explain in this week's edition of Nature.

30 Mar 2013

European Commission grants conditional marketing authorization for Pfizer's BOSULIF

Pfizer Inc. announced today that the European Commission has granted conditional marketing authorization for BOSULIF (bosutinib) in the European Union for the treatment of adult patients with chronic phase, accelerated phase and blast phase Philadelphia chromosome positive chronic myelogenous leukemia previously treated with one or more tyrosine kinase inhibitor(s) and for whom imatinib, nilotinib and dasatinib are not considered appropriate treatment options.

28 Mar 2013