(Press-News.org) Contact information: Lynn Yarris
lcyarris@lbl.gov
510-486-5375
DOE/Lawrence Berkeley National Laboratory
What is it about your face?
Berkeley Lab researchers provide new insight into why each human face is unique
The human face is as unique as a fingerprint, no one else looks exactly like you. But what is it that makes facial morphology so distinct? Certainly genetics play a major role as evident in the similarities between parents and their children, but what is it in our DNA that fine-tunes the genetics so that siblings – especially identical twins - resemble one another but look different from unrelated individuals? A new study by researchers at the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) has now shown that gene enhancers - regulatory sequences of DNA that act to turn-on or amplify the expression of a specific gene – are major players in craniofacial development.
"Our results suggest it is likely there are thousands of enhancers in the human genome that are somehow involved in craniofacial development," says Axel Visel, a geneticist with Berkeley Lab's Genomics Division who led this study. "We don't know yet what all of these enhancers do, but we do know that they are out there and they are important for craniofacial development."
Visel is the corresponding author of a paper in the journal Science that describes this research. The paper is titled "Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers." (See below for the complete list of co-authors.)
While some genetic defects responsible for craniofacial pathologies such as clefts of the lip or palate have been identified, the genetic drivers of normal craniofacial variation have been poorly understood. Previous work by Visel and his collaborators, in which they mapped gene enhancers in the heart, the brain and other organ systems demonstrated that gene enhancers can regulate their targets from across distances of hundreds of thousands of base pairs. To learn whether gene enhancers can also have the same long-distance impact on craniofacial development, Visel and a multinational team of collaborators studied transgenic mice.
"We used a combination of epigenomic profiling, in vivo characterization of candidate enhancer sequences, and targeted deletion experiments to examine the role of distant-acting enhancers in the craniofacial development of our mice," says Catia Attanasio, the lead author on the Science paper. "This enabled us to identify complex regulatory landscapes, consisting of enhancers that drive spatially complex developmental expression patterns. Analysis of mouse lines in which individual craniofacial enhancers had been deleted revealed significant alterations of craniofacial shape, demonstrating the functional importance of enhancers in defining face and skull morphology."
In all, Visel, Attanasio and their colleagues identified more than 4,000 candidate enhancer sequences predicted to be active in fine-tuning the expression of genes involved in craniofacial development, and created genome-wide maps of these enhancers by pin-pointing their location in the mouse genome. The researchers also characterized in detail the activity of some 200 of these gene enhancers and deleted three of them. A majority of the enhancer sequences identified and mapped are at least partially conserved between humans and mice, and many are located in human chromosomal regions associated with normal facial morphology or craniofacial birth defects.
"Knowing about the existence of these enhancers, which are inherited from parents to their children just like genes,
knowing their exact location in the human genome, and knowing their general activity pattern in craniofacial development should facilitate a better understanding of the connection between genetics and human craniofacial morphology," Visel says. "Our results also offer an opportunity for human geneticists to look for mutations specifically in enhancers that may play a role in birth defects, which in turn may help to develop better diagnostic and therapeutic approaches."
Visel says he and his collaborators are now in the process of refining their genome-wide maps to gain additional information about the activity patterns of these enhancer sequences. They are also working with human geneticists to perform targeted searches for mutations of these enhancer sequences in human patients who have craniofacial birth defects.
INFORMATION:
In addition to Visel and Attanasio, other authors of the Science paper on this work were Alex Nord, Yiwen Zhu, Matthew Blow, Zirong Li, Denise Liberton, Harris Morrison, Ingrid Plajzer-Frick, Amy Holt, Roya Hosseini, Sengthavy Phouanenavong, Jennifer Akiyama, Malak Shoukry, Veena Afzal, Edward Rubin, David FitzPatrick, Bing Ren, Benedikt Hallgrímsson and Len Pennacchio.
This research was primarily supported by the DOE Office of Science and the National Institutes of Health.
Lawrence Berkeley National Laboratory addresses the world's most urgent scientific challenges by advancing sustainable energy, protecting human health, creating new materials, and revealing the origin and fate of the universe. Founded in 1931, Berkeley Lab's scientific expertise has been recognized with 13 Nobel prizes. The University of California manages Berkeley Lab for the U.S. Department of Energy's Office of Science. For more, visit http://www.lbl.gov.
What is it about your face?
Berkeley Lab researchers provide new insight into why each human face is unique
2013-10-25
ELSE PRESS RELEASES FROM THIS DATE:
Why plants usually live longer then animals
2013-10-25
Why plants usually live longer then animals
Ghent, 24 October –Stem cells are crucial for the continuous generation of new cells. Although the importance of stem cells in fuelling plant growth and development still many questions on their tight molecular ...
Foreign private patients provide a lucrative source of NHS income
2013-10-25
Foreign private patients provide a lucrative source of NHS income
Foreign patients coming to the UK for private medical treatment are a lucrative source of income for the NHS, according to a new study by researchers at the London School ...
Study ties bone marrow transplant to negative sexual side effects
2013-10-25
Study ties bone marrow transplant to negative sexual side effects
Radiation, graft-versus-host disease cited as particularly damaging
(WASHINGTON – October 24, 2013) – New research ties preparative procedures and complications associated with blood or bone ...
Grasshopper mice are numb to the pain of the bark scorpion sting
2013-10-25
PUBLIC RELEASE DATE: 24-Oct-2013
[
| E-mail
]
var addthis_pub="eurekalert"; var addthis_options = "favorites, delicious, digg, facebook, twitter, google, newsvine, reddit, slashdot, stumbleupon, buzz, more"
Share
Contact: Ashlee Rowe
roweashl@msu.edu
517-432-4468
Michigan State University
Harold Zakon
h.zakon@mail.utexas.edu
University of Texas at Austin
Grasshopper mice are numb to the pain of the bark scorpion sting
The painful, potentially deadly stings of bark scorpions are nothing more than a slight nuisance to grasshopper mice, which ...
Behavior problems in preschool and child care centers may be an issue of genes
2013-10-25
Behavior problems in preschool and child care centers may be an issue of genes
BEND, Ore. – A new study suggests that some children may be genetically predisposed to developing behavioral problems in child care and preschool settings.
Previous ...
NASA sees Super-typhoon Lekima ready to make the curve
2013-10-25
NASA sees Super-typhoon Lekima ready to make the curve
Super-typhoon Lekima is poised to "make the curve" in the northwestern Pacific Ocean today. The storm's track is expected to shift from a northwesterly direction, and curve to northeasterly direction because ...
Preclinical study finds drug helps against pancreatic cancer
2013-10-25
Preclinical study finds drug helps against pancreatic cancer
October 23, 2013—(BRONX, NY)—An investigational drug that disrupts tumor blood vessels shows promise against a rare type of pancreatic cancer, scientists at Albert Einstein College ...
Could the Colorado River once have flowed into the Labrador Sea?
2013-10-25
Could the Colorado River once have flowed into the Labrador Sea?
November 2013 GSA Today
Boulder, Colorado, USA – In the November issue of GSA Today, James W. Sears of the University of Montana in Missoula advocates a possible Canadian connection for the early Miocene ...
Young, black women at highest risk for lupus, suffer more life-threatening complications
2013-10-25
Young, black women at highest risk for lupus, suffer more life-threatening complications
Lupus disparities in southeastern Michigan: Black females develop disease during prime reproductive years, at higher risk for kidney and neurologic complications
ANN ...
MTV, AP-NORC Center survey finds that online bullying has declined
2013-10-25
MTV, AP-NORC Center survey finds that online bullying has declined
Report shows downward trend across 26 of 27 forms of digital abuse, incidence of sexting drops nearly 20 percent, less than half of young people report experiencing digital abuse
New York, ...
LAST 30 PRESS RELEASES:
The most effective diabetes drugs don't reach enough patients yet
Breast cancer risk in younger women may be influenced by hormone therapy
Strategies for staying smoke-free after rehab
Commentary questions the potential benefit of levothyroxine treatment of mild hypothyroidism during pregnancy
Study projects over 14 million preventable deaths by 2030 if USAID defunding continues
New study reveals 33% gap in transplant access for UK’s poorest children
Dysregulated epigenetic memory in early embryos offers new clues to the inheritance of polycystic ovary syndrome (PCOS)
IVF and IUI pregnancy rates remain stable across Europe, despite an increasing uptake of single embryo transfer
It takes a village: Chimpanzee babies do better when their moms have social connections
From lab to market: how renewable polymers could transform medicine
Striking increase in obesity observed among youth between 2011 and 2023
No evidence that medications trigger microscopic colitis in older adults
NYUAD researchers find link between brain growth and mental health disorders
Aging-related inflammation is not universal across human populations, new study finds
University of Oregon to create national children’s mental health center with $11 million federal grant
Rare achievement: UTA undergrad publishes research
Fact or fiction? The ADHD info dilemma
Genetic ancestry linked to risk of severe dengue
Genomes reveal the Norwegian lemming as one of the youngest mammal species
Early birds get the burn: Monash study finds early bedtimes associated with more physical activity
Groundbreaking analysis provides day-by-day insight into prehistoric plankton’s capacity for change
Southern Ocean saltier, hotter and losing ice fast as decades-long trend unexpectedly reverses
Human fishing reshaped Caribbean reef food webs, 7000-year old exposed fossilized reefs reveal
Killer whales, kind gestures: Orcas offer food to humans in the wild
Hurricane ecology research reveals critical vulnerabilities of coastal ecosystems
Montana State geologist’s Antarctic research focuses on accumulations of rare earth elements
Groundbreaking cancer therapy clinical trial with US Department of Energy’s accelerator-produced actinium-225 set to begin this summer
Tens of thousands of heart attacks and strokes could be avoided each year if cholesterol-lowering drugs were used according to guidelines
Leading cancer and metabolic disease expert Michael Karin joins Sanford Burnham Prebys
Low-intensity brain stimulation may restore neuron health in Alzheimer's disease
[Press-News.org] What is it about your face?Berkeley Lab researchers provide new insight into why each human face is unique