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.

Deinove to receive European patent for genetic engineering process

Deinove, the world's leading specialist in Deinococcus bacteria for biofuels, green chemistry and antibiotics, today announced that the European Patent Office had notified it of the intention to grant the patent application EP2016183 entitled "Process for chromosome engineering using a novel DNA repair system".

21 Dec 2010

Research identifies two genetic variants that increase risk of endometriosis

Research published today identifies two genetic variants that increase the risk of developing endometriosis, a common gynaecological disease. The study provides clues to the origin of this often very painful condition, which has a significant impact on the quality of life of sufferers.

13 Dec 2010

Dogs help understand primary ciliary dyskinesia

A dog is mankind's best friend : the old saying has once again been borne out through a medical discovery concerning the genetic origins of primary ciliary dyskinesia (PCD). In using dogs as a research model in the framework of the European LUPA project, a team from the University of Liège's GIGA-Research Unit has been able to bring to light new mutations in a specific gene responsible for the development of the disease in human beings.

9 Dec 2010

Creation of two-father offspring in mice, a step toward preserving endangered species

Using stem cell technology, reproductive scientists in Texas, led by Dr. Richard R. Berhringer at the M.D. Anderson Cancer Center, have produced male and female mice from two fathers.

9 Dec 2010

Study demonstrates new test for early diagnosis of Turner syndrome

A recent study accepted for publication in The Endocrine Society's Journal of Clinical Endocrinology & Metabolism (JCEM) has demonstrated a novel and accurate test for early diagnosis of Turner syndrome. Turner syndrome affects one in 1,500 to 2,000 female live births and early diagnosis allows for the timely management of short stature and co-morbid conditions including cardiac and renal problems.

9 Dec 2010

OMT announces new human antibody platform using genetically engineered rats expressing human antibodies

Open Monoclonal Technology, Inc. (OMT) today announced its new human antibody platform using the first genetically engineered rats expressing a human antibody repertoire. The company, which also created the first targeted knockout rats in 2009, is now cross-breeding the knockout animals with the rats expressing human antibodies to finalize its platform.

9 Dec 2010

New drug appears to help patients with chronic myeloid leukemia

A new drug appears to help chronic myeloid leukemia patients who are out of treatment options after first- and second-line drugs have failed them or because their cancer cells have a mutation that makes them resistant from the start, researchers reported at the 52nd Annual Meeting of the American Society of Hematology.

7 Dec 2010

No evidence of toxicity in hemophilia B patients enrolled in gene therapy trial

Investigators report no evidence of toxicity in the four hemophilia B patients enrolled to date in a gene therapy trial using a vector under development at St. Jude Children's Research Hospital and UCL (University College London) to correct the inherited bleeding disorder.

7 Dec 2010

Research on BCR-ABL inhibitors for treating ALL, CML presented at ASH Annual Meeting

Over the past decade, significant advances have been made in the treatment of leukemia through the ongoing development of gene-based targeted therapies. Research that will be presented today at the 52nd Annual Meeting of the American Society of Hematology provides greater understanding of the optimal use of several BCR-ABL inhibitors for the treatment of acute lymphoblastic leukemia and chronic myeloid leukemia, and how a new gene target functions for several myeloid malignancies.

6 Dec 2010

Pfizer plans regulatory submissions of bosutinib for CML based on BELA study

Pfizer Inc. announced today it is planning regulatory submissions of bosutinib in patients with chronic myeloid leukemia (CML) based on data from a clinical program evaluating the compound in newly diagnosed and previously treated patients. These regulatory submissions are planned for 2011.

4 Dec 2010

Alteration in gene causes male embryos to develop as females

Scientists have discovered that the alteration of a single gene could cause some male embryos to develop as females.

4 Dec 2010

LMO1 gene variation can increase neuroblastoma risk

Pediatric cancer researchers have identified variations in a gene as important contributors to neuroblastoma, the most common solid cancer of early childhood. The study team, led by researchers at The Children's Hospital of Philadelphia, found that common variants in the LMO1 gene increase the risk of developing an aggressive form of neuroblastoma, and also mark the gene for continuing to drive the cancer's progression once it forms.

2 Dec 2010

Study finds duplicated region of DNA in major depressive disorder

A large genetic study of people with major depression has found that a duplicated region of DNA on chromosome 5 predisposes people to the disorder. The gene involved plays an important role in the development of nerve cells, adding to evidence that disruptions in neurotransmission networks form a biological basis for depression.

1 Dec 2010

Pfizer to present data on hematology portfolio at ASH Annual Meeting

Pfizer said today that new data on investigational compounds in its hematology portfolio will be presented at the 52nd Annual Meeting of the American Society of Hematology (ASH) in Orlando, December 4-7.

1 Dec 2010

DTRA presents Outstanding Scientific Achievement award to Aduro BioTech

Aduro BioTech, a clinical-stage immunotherapy company, is pleased to announce the "Outstanding Scientific Achievement" award from the Defense Threat Reduction Agency. The award was presented at the 2010 Chemical and Biological Defense Science and Technology Conference in Orlando, Florida to Dr. Justin Skoble, Associate Director, Biodefense and Process Development at Aduro BioTech.

30 Nov 2010

Research finds alteration in KBTBD13 protein causes nemaline myopathy

Researchers from the Department of Anesthesiology, Uniformed Services University of the Health Sciences (USU), along with research teams from the National Institutes of Health and from Australia, the Netherlands and Spain, have identified a novel gene on chromosome 15q that, when altered, causes nemaline myopathy with cores, a rare inherited muscle disorder. The gene encodes a member of the BTB/Kelch family of proteins.

30 Nov 2010

Study finds association between DGKK gene and hypospadias

Hypospadias is a common congenital malformation of the male external genitalia, affecting 1 in 375 boys. In hypospadias patients, the urethral opening is not located at the tip of the penis, but somewhere halfway, at the base of the penis, or even in the scrotum.

29 Nov 2010

Tension-dependent stabilization helps chromosome separation machinery

Scientists have discovered an amazingly simple way that cells stabilize their machinery for forcing apart chromosomes. Their findings are reported Nov. 25 in Nature.

25 Nov 2010

Research indicates possible danger of cancerous tissue development by using stem cells

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.

22 Nov 2010

Scientists identify gene variants associated with eating disorder

Scientists at The Children's Hospital of Philadelphia have identified both common and rare gene variants associated with the eating disorder anorexia nervosa.

20 Nov 2010