This is the twice-per-month electronic newsletter for basic, preclinical and translational research news related to the Johns Hopkins School of Medicine. Please forward freely. Direct comments or questions to Joanna Downer, PhD, in the Office of Corporate Communications (410-614-5105, jdowner1@jhmi.edu).
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IN THIS ISSUE:
RESEARCH HIGHLIGHTS:
+ U.S.-India Research Team Completes Analysis of X Chromosome
+ Cancer Gene Pair Drives Both Cell Migration and Division
+ A 15-Year Hunt Uncovers Gene Behind "Pseudothalidomide" Syndrome
+ Gene Regions Beyond Protein Instructions Important in Disease
NEWS BRIEFS:
Epigenetics Symposium To Be Held May 31
AWARDS AND HONORS:
Three Hopkins Teams Top Annual "Mosh Pit"
IN THE NEWS:
Dan Berkowitz in The Cape Codder
Phil Beachy in the Dallas Morning News
Paul Fuchs in Science Now
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Do you have an interesting research finding about one month from publication or presentation? Send manuscripts to Joanna Downer at jdowner1@jhmi.edu or fax to 410-614-8951. Information about awards and honors received by laboratory personnel and others is welcomed also.
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RESEARCH HIGHLIGHTS:
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4/1/05
U.S.-India Research Team Completes Analysis of X Chromosome
By intensely and systematically comparing the human X chromosome to genetic information from chimpanzees, rats and mice, a team of scientists from the United States and India has uncovered dozens of new genes, many of which resemble no known genes.
Regions of the X chromosome have been linked to mental retardation and numerous other disorders, but finding the particular genetic abnormalities involved has been difficult.
The team's accomplishment, described in the April issue of Nature Genetics, should speed research into diseases associated with the X chromosome and encourage similar analyses of other chromosomes.
"To our knowledge, this is the first time critical analysis of an entire chromosome has been done by a group that wasn't involved in determining the chromosome's genetic sequence," says study leader Akhilesh Pandey, MD, PhD, an assistant professor in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins and chief scientific adviser to the Institute of Bioinformatics (IOB) in Bangalore, India, where the analyses took place. "We didn't start small. We wanted to prove that complete annotation can be done, and done in a way that lets you find new and unexpected things."
http://www.hopkinsmedicine.org/Press_releases/2005/04_01a_05.html
Nature Genetics April 2005;37(4):331-332.
http://www.nature.com/ng/journal/v37/n4/full/ng0405-331.html
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4/5/05
Cancer Gene Pair Drives Both Cell Migration and Division
Johns Hopkins researchers have discovered that two genes already known to control cell movement are also needed for proper cell division. The findings are described in the April issue of Developmental Cell.
In experiments with amoeba, the researchers discovered that the two genes, called PTEN and PI3K, are required for a dividing cell's halves to separate.
"Scientists studying cell migration have focused on the front of the cell and what drives it, while cell division researchers have concentrated on the furrow within the dividing cell," says Peter Devreotes, PhD, professor and director of cell biology in Johns Hopkins' Institute for Basic Biomedical Sciences. "But we've found that when you look at the whole cell, there are a lot of similarities between division and movement."
The researchers' discovery raises the possibility that interfering with the genes might help stop the uncontrolled cell division found in cancers. Already, mutations in these genes have been found in more than half of all human cancers.
http://www.hopkinsmedicine.org/Press_releases/2005/04_05_05.html
Developmental Cell April 2005;8(4):467-477.
http://dx.doi.org/10.1016/j.devcel.2005.02.010
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4/10/05
A 15-Year Hunt Uncovers Gene Behind "Pseudothalidomide" Syndrome
A team of scientists from Colombia, the United States and elsewhere has successfully completed a 15-year-plus search for the genetic problems behind the very rare Roberts syndrome, whose physical manifestations often include cleft lip and palate and shortened limbs that resemble those of babies whose mothers took thalidomide during pregnancy.
The discovery, which is reported in the April 10 advance online section of Nature Genetics, proves that genes behind very rare inherited diseases can now be found, offering excellent opportunities to strengthen understanding of craniofacial and limb development, health and disease beyond the rare disease itself, say the researchers.
"For decades now, we've known that the appearance and number of chromosomes were abnormal in people with Roberts syndrome, but we hadn't been able to figure out why or how," says Ethylin Jabs, MD, a professor in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins.
Because of advances in technology and computer analysis and the availability of various species' genomes, the researchers were able to find the Roberts gene, called ESCO2, by studying samples from just 15 Roberts syndrome families from Colombia, Turkey, Canada and Italy and to provide insight into its biological effect. Without the dedication of two Colombian geneticists, Huga Vega and Miriam Gordillo, the gene might still be unknown.
http://www.hopkinsmedicine.org/Press_releases/2005/04_11_05.html
Nature Genetics (Published online 10 April 2005)
http://dx.doi.org/10.1038/ng1548
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4/13/05
Gene Regions Beyond Protein Instructions Important in Disease
Gene hunters at Johns Hopkins have discovered a common genetic mutation that increases the risk of inheriting a particular birth defect not by the usual route of disrupting the gene's protein-making instructions, but by altering a regulatory region of the gene, which is called RET.
Although the condition, called Hirschsprung disease, is rare, its complex genetics mimics that of more common diseases, such as diabetes and heart disease.
The researchers' discovery, described in the April 14 issue of Nature, adds to growing evidence that problems with the amount of protein made from a gene's instructions are likely to be just as important as - and perhaps more important than -- changes in the proteins themselves, they say. Far from being a problem, the finding is good news, the researchers suggest.
"Mutations in the protein-coding sequence can't really be fixed, but those outside the protein-coding regions -- perhaps we can fiddle with them, perhaps they are 'tunable,'" says study leader Aravinda Chakravarti, PhD, director of the McKusick-Nathans Institute of Genetic Medicine. "The protein should be fine if we can just get the cells to make the right amount."
http://www.hopkinsmedicine.org/Press_releases/2005/04_13_05.html
Nature 14 April 2005;464(7035):857-863.
http://www.nature.com/nature/journal/v434/n7035/full/nature03467.html
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NEWS BRIEFS:
Epigenetics Symposium To Be Held May 31 -- An all-day symposium, "Completing the Book of Life: Epigenetics in Science and Medicine," is scheduled for May 31 in **MOUNTCASTLE AUDITORIUM** (note new location) to discuss the latest findings and applications of epigenetics in development, health and disease. Speakers will be symposium organizer Andrew Feinberg, Cynthia Wolberger, Stephen Baylin, and Victor Corces of Johns Hopkins; Rolf Ohlsson of Uppsala University, Sweden; Vicki Chandler of the University of Arizona; Steven Henikoff of Fred Hutchinson Cancer Research Center and the Howard Hughes Medical Institute; Gary Felsenfeld of the National Institutes of Health; Shiv Grewal and Carl Wu of the National Cancer Institute; Ali Shilatifard of the Saint Louis University Cancer Center and Saint Louis University School of Medicine; and Shelley Berger of the University of Pennsylvania School of Medicine. A schedule is online at:
http://www.hopkinsmedicine.org/mediaII/epigeneticsschedule.html
Three Hopkins Teams Top Annual "Mosh Pit" -- Three teams of Johns Hopkins students topped the field in the Greater Baltimore Technology Council's annual "Mosh Pit" business plan competition for Baltimore area graduate and undergraduate students. GeneTrade, led by medical students Daniel Higginson and Paul Kim, with graduate student Krishna Juluri and medical student Jordan Swanson, won first prize by proposing to centralize and distribute research tools called plasmids that are used widely in biomedical research. The team will receive $15,000 and one year's worth of free office space at Johns Hopkins Eastern. Mura, a team led by Hopkins students Lai Hock Tay, Winnette McIntosh Ambrose and Lefei Sun, won second place and $10,000. Smart Health Inc., led by Hopkins students Frank Zhu, Yu-Kuan Lin and Meng-Hui Tsai, finished in third place and won $5,000. The competition involves developing an idea, recruiting business professionals, writing a realistic business plan, and then defending the plan to judges from the venture capital community.
http://www.jhu.edu/clips/2005_04/25/gene.html (must be at a Johns Hopkins computer to access this article.)
Dan Berkowitz on Hopkins' student Chris Gregg's research on cardiac muscle cells' receptors in The Cape Codder: "Biomedical student helps unlock heart's secrets" by Bill Fonda, The Cape Codder, April 8, 2005.
http://www.jhu.edu/clips/2005_04/15/secrets.html (must be at a Johns Hopkins computer for access)
Phil Beachy on the proposed stem cell basis of cancer in the Dallas Morning News: "Cell Theory Could Reshape Cancer Fight," by Sue Goetinck, the Dallas Morning News, April 15, 2005.
http://www.jhu.edu/clips/2005_04/15/cell.html (must be at a Johns Hopkins computer for access)
Paul Fuchs on the science of hearing in Science Now (Science magazine's daily online news service): "The Science of Speedy Hearing," by Karen Ross, Science Now, April 13, 2005.
http://sciencenow.sciencemag.org/cgi/content/full/2005/413/4
http://www.jhu.edu/clips/2005_04/14/hearing.html (must be at a Johns Hopkins computer for access through this link)
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Find "Change" and "Basics" online from a Hopkins computer:
http://www.insidehopkinsmedicine.org/change
Visit the "Research WebNotes" newsletter online:
http://www.hopkinsmedicine.org/webnotes/
For more news from Hopkins, see:
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Upcoming lectures and seminars:
http://www.hopkinsmedicine.org/faculty_staff/scicalendar.html
Find other news stories about Hopkins at:
http://www.insidehopkinsmedicine.org and click on "News Clips"
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--JHMI--
