Corporate Banner
Satellite Banner
Stem Cells, Cellular Therapy & Biobanking
>
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Skin Cells Reveal DNA’s Genetic Mosaic

Published: Monday, November 19, 2012
Last Updated: Monday, November 19, 2012
Bookmark and Share
The prevailing wisdom has been that every cell in the body contains identical DNA. However, a new study of stem cells derived from the skin has found that genetic variations are widespread in the body’s tissues.

Published in the Nov. 18 issue of Nature, the study paves the way for assessing the extent of gene variation, and for better understanding human development and disease.

“We found that humans are made up of a mosaic of cells with different genomes,” said lead author Dr. Flora Vaccarino, the Harris Professor of Child Psychiatry at the Yale Child Study Center. “We saw that 30 percent of skin cells harbor copy number variations (CNV), which are segments of DNA that are deleted or duplicated. Previously it was assumed that these variations only occurred in cases of disease, such as cancer. The mosaic that we’ve seen in the skin could also be found in the blood, in the brain, and in other parts of the human body.”

The longstanding belief has been that our cells have the same DNA sequence and this blueprint governs the body’s functions. The Yale team’s research challenges this dogma. Some scientists have hypothesized that during development, when DNA is copied from mother to daughter cells, there could be deletions, duplications and changes in the sequence of the DNA, and an entire group of genes could be affected. This premise has been incredibly difficult to test, but Vaccarino and colleagues have done so in this new study.

The team used whole genome sequencing to study induced pluripotent stem cells lines (iPS), which are stem cells developed from a mature-differentiated cell. The team grew cells taken from the inner upper arms of two families. The team spent two years characterizing these iPS cell lines and comparing them to the original skin cells.

While observing that the genome of iPS cells closely resembles the genome of skin cells from which they originated, the team could identify several deletions or duplications involving thousands of base pairs of DNA. The team then performed additional experiments to understand the origin of those differences, and showed that at least half of them pre-existed in small fractions of skin cells. These differences were revealed in iPS cells because each iPS line is derived from one, or very few, skin cells. Vaccarino said these iPS lines could act as a magnifying glass to see the mosaic of genomic differences in the body’s cells.

“In the skin, this mosaicism is extensive and at least 30 percent of skin cells harbor different deletion or duplication of DNA, each found in a small percentage of cells,” said Vaccarino. “The observation of somatic mosaicism has far-reaching consequences for genetic analyses, which currently use only blood samples. When we look at the blood DNA, it’s not exactly reflecting the DNA of other tissues such as the brain. There could be mutations that we’re missing.”

“These findings are shaping our future studies, and we’re doing more studies of the developing brains of animals and humans to see if this variation exists there as well,” Vaccarino added.

Vaccarino worked with a team of researchers from several laboratories, including those of Mark Gerstein, Sherman Weissman, Alexander Eckehart Urban, working together under the auspices of the Program in Neurodevelopment and Regeneration.  Other authors on the study include Alexej Abyzov, Jessica Mariani, Dean Palejev, Ying Zhang, Michael Seamus Haney, Livia Tomasini, Anthony Ferrandino, Lior A. Rosenberg Belmaker, Anna Szekely, Michael Wilson, Arif Kocabas, Nathaniel E. Calixto, Elena L. Grigorenko, Anita Huttner, and Katarzyna Chawarska.


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,500+ scientific posters on ePosters
  • More than 3,800+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Identifying the Metabolism of a Healthy Embryo Could Improve Infertility Treatment
Researchers at Yale School of Medicine are developing a fast, non-invasive test to help assess embryo viability for IVF.
Tuesday, October 27, 2009
Low Oxygen Preserves Usefulness of Stem Cells
Stem cell therapy is a possible future approach for the treatment of cancer and other genetic diseases.
Friday, October 27, 2006
Scientific News
The Mending Tissue - Cellular Instructions for Tissue Repair
NUS-led collaborative study identifies universal mechanism that explains how tissue shape regulates physiological processes such as wound healing and embryo development.
Tissue Bank Pays Dividends for Brain Cancer Research
Checking what’s in the bank – the Brisbane Breast Bank, that is – has paid dividends for UQ cancer researchers.
iPS Cells Discover Drug Target for Muscle Disease
Researchers have designed a model that reprograms fibroblasts to the early stages of their differentiation into intact muscle cells in a step towards a therapeutic for Duchenne muscular dystrophy.
Engineered Hot Fat Implants Reduce Weight Gain
Scientists at UC Berkeley have developed a novel way to engineer the growth and expansion of energy-burning “good” fat, and then found that this fat helped reduce weight gain and lower blood glucose levels in mice.
Transplanted Stem Cells Can Benefit Retinal Disease Sufferers
Tests on animal models show that MSCs secrete growth factors that suppress causes of diabetic retinopathy and macular degeneration.
MRI Scanners Can Steer Therapeutics to Specific Target Sites
Scientists from the University of Sheffield have discovered MRI scanners, normally used to produce images, can steer cell-based, tumour busting therapies to specific target sites in the body.
Team Finds Early Inflammatory Response Paralyzes T Cells
Findings could have enormous implications for immunotherapy, autoimmune disorders, transplants and other aspects of immunity.
Early Detection of Lung Cancer
The University of Manchester has signed a collaboration agreement with Abcodia to perform proteomics studies on a cohort of non-small cell lung cancer cases from the UKCTOCS biobank, with the aim of discovering new blood-based biomarkers for earlier detection of the disease.
Researchers Identify Drug Candidate for Skin, Hair Regeneration
Formerly undiscovered role of protein may lead to the development of new medications that stimulate hair and skin regeneration in trauma or burn victims.
Basis for New Treatment Options for a Fatal Leukemia in Children Revealed
Detailed molecular analyses allow new insights into the function of tumour cells and options for new treatments.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!