Navigation Links
Double-teaming a whole-genome hunt
Date:7/12/2010

embers (five affected with metachondromatosis and six unaffected) with the whole-genome sequencing of one affected member. The linkage study identified likely regions of the genome where the suspect mutation could be found, considerably reducing the fraction of the genome that could contain the disease. Focusing on these regions, the team identified a mutation in PTPN11 that was sure to cause loss of function of the gene product.

"This whole-genome study, which took only two months, got us to a place where otherwise we wouldn't have arrived very quickly, if ever," says David Valle, M.D., Henry J. Knott Professor and director of the Institute of Genetic Medicine, Johns Hopkins University School of Medicine. "It's a great example of the power of a broad, agnostic approach."

By comparing the one whole genome of the affected individual with eight non-affected control genomes as well as to a database of single-letter variations known to occur in more than one percent of the population, and to other sequencing data, the researchers came up with a list of 100 possible candidate genes. These were analyzed in light of the linkage evidence which, although modest, allowed the team to narrow its search for variants to just a fraction of the genome and narrowed the list to half a dozen genes. Then they combed the literature to understand what was known of the biological function of these candidates, looking for any that might be involved in bone development.

Nara Sobreira, a graduate student in human genetics at Johns Hopkins and a lead author of the study, found that lots had been published about one of the six genes, PTPN11. Mutations in this gene made it hyperactive, causing Noonan syndrome, a genetic disorder that prevents normal development in various parts of the body, including the skeleton.

This newly discovered mutation or altered version involved a so-called "deletion" in which a piece of the genetic code is missing and like
'/>"/>

Contact: Maryalice Yakutchik
myakutc1@jhmi.edu
443-287-2251
Johns Hopkins Medical Institutions
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Stimulus grant to fund whole-genome sequencing in children with autism
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/6/2015)... , Aug. 6, 2015 Synaptics Inc. ... human interface solutions, today announced collaboration with Microsoft ... Windows 10. Microsoft leveraged Synaptics, deep expertise in ... system. Through stringent testing, Synaptics, ... certified with Microsoft,s Precision TouchPad (PTP) specification empowering ...
(Date:8/5/2015)... New York , August 5, 2015 ... market report titled "Facial Recognition Market - Global Industry ... 2022", the global market for facial recognition is forecast ... is driven by increased demand for surveillance systems by ... the rising number of crimes and terrorist activities across ...
(Date:8/4/2015)... DUBLIN , Aug. 04, 2015 /PRNewswire/ ... ( http://www.researchandmarkets.com/research/nvh7k2/digital_forensics ) has announced the addition ... Component (Hardware, Software, and Service), Sub-Segment (Computer ... Cloud Forensics), Tool Types, Service, Vertical and ... report to their offering. By ...
Breaking Biology News(10 mins):Synaptics Chosen for Human Interface Co-Development on Windows 10 2Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 2Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 3Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 4Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 5Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 6Digital Forensics Market - The Market Represents a Compound Annual Growth Rate (CAGR) of 11.3% From 2015 to 2020 2
... University and the University of Missouri are developing a ... useful byproducts at a cost of less than a ... the technological aspects of the project, the researchers are ... developing countries, since many areas with the greatest sanitation ...
... flu strain that emerged in China earlier this year has ... be reassured by this apparent lull in infections. The virus ... of a pathogen that may yet lead to a pandemic, ... and Infectious Diseases. David Morens, Jeffery Taubenberger, and Anthony Fauci, ...
... Boston As the population gets older, and the baby ... assume that the number of trips to the emergency department ... Brigham and Women,s Hospital (BWH), which shows that population aging ... to increase between now and 2050. However, visits will become ...
Cached Biology News:Pressure cooker on steroids treats human waste 2Pressure cooker on steroids treats human waste 3H7N9 influenza: History of similar viruses gives cause for concern 2H7N9 influenza: History of similar viruses gives cause for concern 3The aging population and emergency departments 2
(Date:8/26/2015)... -- Roka Bioscience, Inc. (NASDAQ: ROKA ), a molecular ... the detection of foodborne pathogens, today announced that Paul ... Company Emerging Growth Conference on September 2 at 9:20am ... York Marriott Marquis. A live webcast ... relations section of Roka Bioscience,s website at http://rokabio.investorroom.com/ ...
(Date:8/26/2015)... , Aug. 26, 2015  The Diabetes ... the University of Miami Miller School of Medicine, ... clinical trial to test for the first time ... successfully completed.  This FDA approved Phase I/II study ... transplantation and is an important first step toward ...
(Date:8/26/2015)... GERMANTOWN, Md. , Aug. 26, 2015 ... synthetic biology, announced today the closing of its previously ... in full by the underwriters of their option to ... the public offering price of $41.00 per share.  The ... of shares of common stock sold by Intrexon to ...
(Date:8/26/2015)... 2015 China Cord Blood Corporation (NYSE: ... leading provider of cord blood collection, laboratory testing, hematopoietic ... announced that the Company has been informed that Magnum ... owned by Mr. Yuen Kam, chairman of the board ... shares (the "Shares") of  Excellent China Healthcare Investment Limited ...
Breaking Biology Technology:Diabetes Research Institute Successfully Transplants First Patient In Pilot BioHub Trial 2Diabetes Research Institute Successfully Transplants First Patient In Pilot BioHub Trial 3Diabetes Research Institute Successfully Transplants First Patient In Pilot BioHub Trial 4Intrexon Announces Closing of $230 Million Public Offering of Common Stock including Full Exercise of Underwriters' Option to Purchase Additional Shares 2Intrexon Announces Closing of $230 Million Public Offering of Common Stock including Full Exercise of Underwriters' Option to Purchase Additional Shares 3Intrexon Announces Closing of $230 Million Public Offering of Common Stock including Full Exercise of Underwriters' Option to Purchase Additional Shares 4China Cord Blood Corporation Receives Notice of Transactions Regarding its 7% Senior Convertible Notes Due 2017 2China Cord Blood Corporation Receives Notice of Transactions Regarding its 7% Senior Convertible Notes Due 2017 3
... Inc. today announced the,scheduled presentation of data from ... long-acting human growth hormone (hGH) analogue developed in,collaboration ... meeting in Rio de Janeiro. Andrew R. Hoffman, ... Affairs at Stanford University,will present the clinical results ...
... Incorporated (Nasdaq:,VICL) today reported financial results for the quarter ended ... $0.8 million, compared,with revenues of $0.4 million for the third ... 2008 was $9.8 million or $0.24 per share, compared,with $9.2 ... 2007., Revenues for the first nine months of 2008 ...
... - Oncolytics Biotech Inc.,(TSX:ONC, NASDAQ:ONCY) ("Oncolytics" or ... the three and nine-month periods ended September ... Oncolytics made a decision in early November ... using the combination of REOLYSIN(R) with,paclitaxel/carboplatin in ...
Cached Biology Technology:Ambrx to Present Phase I/II Clinical Data for Optimized, Long Acting Human Growth Hormone Analogue 2Vical Reports Third Quarter 2008 Financial Results and Continued Progress in Product Development Programs 2Vical Reports Third Quarter 2008 Financial Results and Continued Progress in Product Development Programs 3Vical Reports Third Quarter 2008 Financial Results and Continued Progress in Product Development Programs 4Vical Reports Third Quarter 2008 Financial Results and Continued Progress in Product Development Programs 5Vical Reports Third Quarter 2008 Financial Results and Continued Progress in Product Development Programs 6Oncolytics Biotech Inc. Announces 2008 Third Quarter Results 2Oncolytics Biotech Inc. Announces 2008 Third Quarter Results 3Oncolytics Biotech Inc. Announces 2008 Third Quarter Results 4Oncolytics Biotech Inc. Announces 2008 Third Quarter Results 5Oncolytics Biotech Inc. Announces 2008 Third Quarter Results 6Oncolytics Biotech Inc. Announces 2008 Third Quarter Results 7Oncolytics Biotech Inc. Announces 2008 Third Quarter Results 8Oncolytics Biotech Inc. Announces 2008 Third Quarter Results 9
... expression vectors, we in-troduced a new concept, namely ... tran-scriptional level at the T7 phage promoter, and ... the plasmid copy number, The main advantage of ... practically all of the outstanding features of the ...
Mouse monoclonal [34B12] to Nop5p + Nop58p - Nucleolar Marker ( Abpromise for all tested applications)....
... the ultimate tool for investigating dynamic events ... previously have been limited at wavelengths longer ... not transmit in the deep UV. HORIBA ... introduces a filter-based confocal system (the DynaMic) ...
... G bind specifically to Fc regions of ... G conjugates are commonly used as affinity ... subtypes from serum, hybridoma ascites fluids, tissue ... reagents are also commonly used to capture ...
Biology Products: