Chromosome 22 News and Research

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Humans normally have 46 chromosomes (23 pairs) in each cell. Two copies of chromosome 22, one copy inherited from each parent, form one of the pairs. Chromosome 22 is the second smallest human chromosome, spanning about 50 million DNA building blocks (base pairs) and representing between 1.5 percent and 2 percent of the total DNA in cells.

In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced.

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. Chromosome 22 likely contains between 500 and 800 genes.

Genes on chromosome 22 are among the estimated 20,000 to 25,000 total genes in the human genome.

VTC professor awarded NIH grant to study a potential therapy for DiGeorge syndrome

The human brain begins to assemble itself shortly after conception as a growing number of brain cells connect to create circuits across the brain.

3 Apr 2023

Age-induced methylation changes in the sperm epigenome contribute to offspring's medical problems

A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 15, Issue 5, entitled, "Age-related methylation changes in the human sperm epigenome."

21 Mar 2023

Brain activity patterns during sleep shed light on the neurobiology behind 22q11.2 Deletion Syndrome

The brain activity patterns during sleep shed light on the neurobiology behind a genetic condition called 22q11.2 Deletion Syndrome (22q11.2DS) and could be used as a biomarker to detect the onset of neuropsychiatric disorders in people with 22q11.2DS.

30 Aug 2022

Artificial intelligence tool to predict the risk of psychotic illness

One-third of children with a microdeletion of chromosome 22 will later develop a psychotic illness such as schizophrenia. But how do we know which of these children might be affected? Today, various studies have contributed to the understanding of the neurobiological mechanisms that are associated with the development of psychotic illnesses.

29 Sep 2021

Research offers new hope for people affected by the microdeletion of chromosome 22

One person in 2000 suffers from a microdeletion of chromosome 22 that can lead to the development of psychotic disorders, such as schizophrenia, in adolescence.

1 Jun 2021

Blood-brain barrier and its effect on the immune system play a role in schizophrenia

Like a stern bodyguard for the central nervous sytem, the blood-brain barrier keeps out anything that could lead to disease and dangerous inflammation--at least when all is functioning normally.

21 Apr 2021

People born with a heart defect have low risk of moderate or severe COVID-19 infection

Results of a retrospective analysis suggest that people born with a heart defect who developed COVID-19 symptoms had a low risk of moderate or severe COVID-19 infection, according to a new article published today in the Journal of the American Heart Association, an open access journal of the American Heart Association.

14 Oct 2020

Misfiring brain cells may create swallowing difficulties in children with neurodevelopmental disorders

Misfiring brain cells that control key parts of the mouth and tongue may be creating swallowing difficulties in children with neurodevelopmental disorders, according to neuroscientists with Virginia Tech and George Washington University.

2 Sep 2020

Scientists unravel mechanisms that lead to ventricular enlargement in schizophrenia

Enlarged cerebral ventricles are found in 80% of individuals with schizophrenia, yet the mechanisms that lead to ventricular enlargement are mostly unknown.

14 Feb 2020

New study provides clear picture of brain abnormalities associated with schizophrenia

What if the key to a better understanding of schizophrenia has been here all along--but researchers haven't had the resources to study it?

12 Feb 2020

Study seeks participants with VCFS-related psychosis to help create biobank of cerebral organoids

A landmark study is calling for at least 50 people in the U.S. with Velo-Cardio-Facial Syndrome (VCFS)-related psychosis to provide blood samples to create the world’s largest VCFS biobank to date of tiny spheres of neural tissue called "cerebral organoids."

24 Oct 2019

Researchers investigate how to prevent the onset of schizophrenia using mouse model

Although predisposing processes occur earlier, schizophrenia breaks out at young adulthood, suggesting it might involve a pathological transition during late brain development in predisposed individuals.

9 Sep 2019

Researchers map uncharted area of genome using advanced imaging

Using advanced imaging techniques, researchers at the University of Colorado Anschutz Medical Campus have mapped a previously uncharted region of the human genome that gives rise to a variety of disease, setting the stage to potentially test for the conditions in the future.

4 Sep 2019

Research opens up new avenues for understanding the causes of schizophrenia

Schizophrenia causes hallucinations and memory or cognition problems inter alia. This psychiatric illness affects 0.5% of the general population, and it may be related to genetic abnormalities of chromosome 22, known as 22q11 deletion syndrome.

17 Jun 2019

Children's Tumor Foundation establishes significant research initiative to combat NF2

On the occasion of World NF2 Awareness Day, the Children's Tumor Foundation has announced the establishment of a significant research initiative dedicated to finding effective treatments for NF2, along with a substantial investment of $2.3 million in this bold new effort.

23 May 2019

Study: Under-connectivity is the underlying cause of brain disorders

Under-connectivity, or too few connections in the brain, is the underlying cause of brain disorders like autism and schizophrenia, according to a recent study from investigators at the George Washington University Institute for Neuroscience.

10 May 2019

Zebrafish offers clue to alleviate gastrointestinal distress related to autism

University of Miami researchers have discovered a clue in the humble zebrafish's digestive tract that, one day, could help people on the autism spectrum alleviate one of the most common yet least studied symptoms of their disorder: gastrointestinal distress.

7 Feb 2019

MGH researchers explore how genetic abnormality in Ewing sarcoma unleashes tumor growth

A Massachusetts General Hospital research team has used epigenome editing tools to investigate how the genetic abnormality that drives Ewing sarcoma - the second most common bone cancer in children and young adults - unleashes tumor growth.

2 Aug 2018

Abnormalities of blood vessels in the brain may play major role in development of schizophrenia

Scientists from Trinity College Dublin and the Royal College of Surgeons in Ireland have discovered that abnormalities of blood vessels in the brain may play a major role in the development of schizophrenia, a debilitating condition that affects around 1% of people in Ireland.

10 Oct 2017

Scientists identify key gene in 22q11.2 that contributes to genitourinary birth defects

The 22q11.2 region of human chromosome 22 is a hotspot for a variety of birth defects. Scientists learned about this region because it is deleted in about 1 in 4,000 births, causing the loss or duplication of up to 40 genes.

25 May 2017