Researchers present comprehensive 'roadmap' of blood cells

March 26, 2014

Research published online today in Blood, the Journal of the American Society of Hematology, presents an unprecedented look at five unique blood cells in the human body, pinpointing the location of key genetic regulators in these cells and providing a new tool that may help scientists to identify how blood cells form and shed light on the etiology of blood diseases.

Work published today in Blood is a subset of a much larger catalog of genetic information about nearly 1,000 and tissues unveiled today from the international research consortium "Functional Annotation of the Mamaliam Genome" (FANTOM, with this latest installment referred to as FANTOM5). Two flagship manuscripts describing pivotal observations from the expansive genome mapping project were also published online today in Nature; companion work is also being published today in BMC Genomics.

Blood comprises three main types of cells, erythrocytes (red ), leukocytes (white blood cells), and thrombocytes (platelets), all of which arise from . While the origin of these cells is known, the changes that take place in the stem cell to dictate whether it becomes red cell, white cell, or platelet – or even develops a genetic mutation – are not yet fully understood.

To provide insight into this process, investigators analyzed more than 30 different specialized subtypes of (including , T cells, monocytes, granulocytes, and B cells) and pinpointed the locations of key regions known as enhancers and promoters that determine if a particular gene will be active or silent in a cell. By identifying and mapping the locations of these regulators, investigators were able to correlate them with activity in specific genes.

"Until this point researchers could only recognize the unique signatures of enhancers and promoters; however, their exact location, as well as the association of specific enhancers to specific blood cells, remained unclear," said FANTOM5 Principal Investigator Alistair Forrest, PhD, of the RIKEN Centre for Life Science Technology in Yokohama, Japan. "This new, publicly available resource changes that, providing hematologists with a baseline reference for most blood cell types that allows them to trace the development of these cells and determine what may have occurred along the way to lead them to their final state."

With this new understanding of the location of enhancers and promoters used in each blood cell, investigators will now be better equipped to design experiments to determine how genes become activated, which could potentially lead to the development of strategies for turning off the gene to prevent or treat malignancies.

"The specific genetic alterations that are responsible for a normal cell turning into a cancer cell show up in the levels of messenger RNA in the cell, and these differences are often very subtle," said Dr. Forrest. "Now that we have these incredibly detailed pictures of each of these cell types, we can now work backwards to compare to the cells they came from originally to better understand what may have triggered the cells to malfunction, so we will be better equipped to develop new and more effective therapies."

Explore further: Scientists identify key regulator controlling formation of blood-forming stem cells

More information:

  • Rönnerblad M, Andersson R, Olofsson T, et al. Analysis of the DNA methylome and transcriptome in granulopoiesis reveals timed changes and dynamic enhancer methylation [published online ahead of print March 26, 2014]. Blood. DOI: 10.1182/blood-2013-02-482893.
  • Prasad P, Rönnerblad M, Arner E, et al. High-throughput transcription profiling identifies putative epigenetic regulators of hematopoiesis [published online ahead of print March 26, 2014]. Blood. DOI: 10.1182/blood-2013-02-483537.
  • Motakis E, Guhl S, Ishizu Y, et al. Redefinition of the human mast cell transcriptome by deep-CAGE sequencing [published online ahead of print March 26, 2014].Blood. DOI: 10.1182/blood-2013-02-483792.
  • Schmidl C, Renner K, Peter K, et al. Transcription and enhancer profiling in human monocyte subsets [published online ahead of print March 26, 2014]. Blood. DOI: 10.1182/blood-2013-02-484188.
  • Schmidl C, Hansmann L, Lassmann T, et al. The enhancer and promoter landscape of human regulatory and conventional T-cell subpopulations [published online ahead of print March 26, 2014]. Blood. DOI: 10.1182/blood-2013-02-486944.

Related Stories

Rare form of leukemia found to originate in stem cells

February 13, 2014

(Medical Xpress)—An international team of researchers working out of the University of Toronto has found that one type of rare leukemia appears to get its start in stem cells. In their paper published in the journal Nature, ...

First comprehensive atlas of human gene activity released

March 26, 2014

A large international consortium of researchers has produced the first comprehensive, detailed map of the way genes work across the major cells and tissues of the human body. The findings describe the complex networks that ...

Recommended for you

Flu study, on hold, yields new vaccine technology

September 2, 2015

Vaccines to protect against an avian influenza pandemic as well as seasonal flu may be mass produced more quickly and efficiently using technology described today by researchers at the University of Wisconsin-Madison in the ...

We've all got a blind spot, but it can be shrunk

August 31, 2015

You've probably never noticed, but the human eye includes an unavoidable blind spot. That's because the optic nerve that sends visual signals to the brain must pass through the retina, which creates a hole in that light-sensitive ...

Biologists identify mechanisms of embryonic wound repair

August 31, 2015

It's like something out of a science-fiction movie - time-lapse photography showing how wounds in embryos of fruit flies heal themselves. The images are not only real; they shed light on ways to improve wound recovery in ...

New 'Tissue Velcro' could help repair damaged hearts

August 28, 2015

Engineers at the University of Toronto just made assembling functional heart tissue as easy as fastening your shoes. The team has created a biocompatible scaffold that allows sheets of beating heart cells to snap together ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.