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.

New mutations near known genes could contribute to the increase in cleft lip and palate risk

Cleft lip and palate are among the most common congenital malformations, which are mainly due to genetic causes.

16 Dec 2022

Researchers discover previously unknown mechanism for how 'starvation response' is triggered

Body cells burn off fat reserves when nutrient supply from food ceases. A team led by Professor Volker Haucke and Dr. Wonyul Jang from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) has now discovered a previously unknown mechanism for how this “starvation response” is triggered, and what can inhibit it.

15 Dec 2022

Severity of COVID-19 in men may be due to the loss of Y chromosome

Men are at an increased risk of a severe bout of COVID-19 compared to women. Researchers at Uppsala University have now shown that this may be due to loss of the Y chromosome in part of their white blood cells.

14 Dec 2022

Targeted therapies and novel drug combinations show promise for the treatment of multiple leukemias

Researchers from The University of Texas MD Anderson Cancer Center are presenting compelling findings from three clinical trials at the 2022 American Society of Hematology Annual Meeting.

13 Dec 2022

People with Alzheimer’s and Down syndrome may benefit from participating in Alzheimer’s clinical trials

Amyloid plaques — protein clumps that are one of the hallmarks of Alzheimer's disease—occur at roughly the same level in the brains of people with Down syndrome who have Alzheimer's as they do in people with forms of hereditary, early-onset Alzheimer's, according to research funded by the National Institutes of Health.

12 Dec 2022

Many genetic disorders respond well to specialized gene therapy

When the normal DNA sequence in an individual changes or mutates it can cause disease. The mutation may involve multiple genes and may be caused by environmental factors, or there may be chromosomal defects that are harmful at birth, in infancy or environment at a later stage.

12 Dec 2022

Using Whole Exome Sequencing and Carrier Screening Tests for Birth Defects

In this interview, NewsMedical speaks with Rainu Wau from International Maternal and Children’s Hospital, Shanghai, China, about her experience using whole exome sequencing and carrier screening tests.

From BGI Genomics 8 Dec 2022

The critical role of flow cytometry in CAR+ T-Cell trials

In this interview, Ryan Muise talks to AZoNetwork about the added value of using flow cytometry in CAR T-Cell clinical trials.

From Cerba Research 6 Dec 2022

CRC 1361 at JGU continues to achieve excellence in DNA repair and genome stability research

The German Research Foundation (DFG) announced the prolongation of the Collaborative Research Center (CRC) 1361: "Regulation of DNA Repair and Genome Stability" for an additional four years.

2 Dec 2022

UAB and Menkes International Association sign a donation agreement to boost research in Menkes disease

These funds, coming from the Menkes International Association, will allow a research project to search for new biomarkers to establish administration and monitoring protocols for a new drug that could improve the lives of children suffering from this rare disease.

29 Nov 2022

What genes are associated with asthma exacerbations?

In a new study, researchers reviewed the genomics, transcriptomics, and epigenetics of asthma exacerbations (AEs).

29 Nov 2022

New CRISPR-based tool can snip out faulty genes and replace them with new ones

Building on the CRISPR gene-editing system, MIT researchers have designed a new tool that can snip out faulty genes and replace them with new ones, in a safer and more efficient way.

24 Nov 2022

Scientists develop RNA-targeting strategy to repair genetic cause of ALS and dementia

Scientists at UF Scripps Biomedical Research have developed a potential medicine for a leading cause of ALS and dementia that works by eliminating disease-causing segments of RNA. The

22 Nov 2022

New studies improve understanding of the genetic factors that protect people against COVID-19

Two recent papers by Brazilian researchers have contributed to the scientific understanding of the genetic factors that protect people against infection by SARS-CoV-2 or prevent progression to severe COVID-19.

21 Nov 2022

MIT researchers develop new technique for genome-wide studies of the liver

The liver’s ability to regenerate itself is legendary. Even if more than 70 percent of the organ is removed, the remaining tissue can regrow an entire new liver.

21 Nov 2022

New discovery reveals which patients will survive longer after receiving immunotherapy

Patients with head and neck cancer who have more genetic material on chromosome 9 in their cancer cells survive three times longer after receiving immunotherapy than those with less genetic material there, a new study finds.

14 Nov 2022

Researchers provide new insights into the vexing process that makes HIV stealthy

An immune response that likely evolved to help fight infections appears to be the mechanism that drives human immunodeficiency virus (HIV) into a latent state, lurking in cells only to erupt anew, researchers at Duke Health report.

14 Nov 2022

Pitt scientists solve the mystery of how melanoma tumors control their mortality

Scientists at the University of Pittsburgh School of Medicine have discovered the missing puzzle piece in the mystery of how melanoma tumors control their mortality.

10 Nov 2022

High-quality reference genome assembly of the Nile rat facilitates diabetes research

Model organisms are essential for biomedical research and have enabled many important scientific discoveries. The ability to sequence the genomes of these models is a powerful tool to study the genetic factors that impact human health.

9 Nov 2022

Scientists determine 5,072 essential human genes

In a recent study published in the journal Cell, researchers examined the phenotypic landscape of multiple elusive essential human genes to create a detailed genotype-phenotype resource outlining the phenotypic consequences of disrupting fundamental cellular processes.

8 Nov 2022