Navigation Links
Discovered gene causes Kabuki syndrome
Date:8/15/2010

ome sequence to look for differences shared by the affected individuals. Initially, the researchers identified none.

The researchers then tested the hypothesis that Kabuki syndrome is more genetically heterogeneous than originally assumed, and that multiple genes could potentially cause the disorder. Looking for novel variants in genes that were shared among subsets of the 10 patients' exomes, they found novel, matching variants that were shared in three genes in nine of the patient's exomes, shared in six genes in at least eight exomes, and shared in 16 genes among seven exomes.

With no obvious way to rank these gene candidates, the researchers categorized each Kabuki case based on a subjective assessment of how well the patient matched the characteristics of Kabuki syndrome. They also looked in particular for variants in genes that led to a loss of function. The combined analysis pointed to gene called MLL2.

The researchers found novel variants which lead to a loss of function in the MLL2 gene in the four highest ranked cases, and in three of the remaining six cases. The variants were nonsense and frameshift mutations. The nonsense mutation substituted a single nucleotide (a molecule that links to form DNA) in the gene code, while the frameshift mutation resulted in a four nucleotide deletion in the gene.

In these cases, each nonsense and frameshift mutation resulted in the production of a shortened, nonfunctional protein. The MLL2 gene normally encodes a protein important in the regulation of chromatin, a protein that helps package the DNA in a compact form and allows the chromosome to fit in the cell nucleus. Changes in chromatin structure are associated with DNA replication and turning genes on or off.

Once the researchers suspected the MLL2 gene, follow-up sequencing using the traditional and highly accurate Sanger DNA sequencing method, more capable of reliably detecting frameshifts, was used to identify
'/>"/>

Contact: Omar McCrimmon
mccrimmono@mail.nih.gov
301-402-0911
NIH/National Human Genome Research Institute
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Formula discovered for longer plant life
2. Earliest animal footprints ever found -- discovered in Nevada
3. Important new hair-loss gene discovered
4. Newly-discovered mechanism can explain the Beckwith-Wiedemann syndrome
5. New cell division mechanism discovered
6. New regulatory mechanism discovered for cell identify and behavior in forming organs
7. Planetary "first family" discovered by astronomers using Gemini and Keck Observatories
8. Planetary first family discovered by astronomers using Gemini and Keck Observatories
9. New bacteria discovered in raw milk
10. Key link in how plants adapt to climate discovered by Stanford researchers
11. UV-B light sensing mechanism discovered in plant roots
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/20/2015)... 20, 2015 The announcement comes ... Glenbeigh Records Management (GRM), Ireland,s foremost ... Bank. Having built up an impressive track record of clients ... player within the records management sector in Dubai ... is GCC staffbase and employ a further eight staff members ...
(Date:4/13/2015)...  higi, a leading cloud-based consumer engagement platform that ... with their communities around health and wellness, announced today ... API.  ... and convenient vehicle to receive validated health information from ... The API will allow higi,s trusted partners, on a ...
(Date:4/2/2015)... 2015 In the current ... outperforms the strongest competitors, showing outstanding performance in ... system is capable of a throughput of 5.000.000 ... to be ten times faster than most competitors ...      (Photo: http://photos.prnewswire.com/prnh/20150402/738673-a ) ...
Breaking Biology News(10 mins):Glenbeigh Records Management Wins Contract With Dubai Islamic Bank 2Glenbeigh Records Management Wins Contract With Dubai Islamic Bank 3higi Launches Seamless Access to HIPAA-Compliant Health Outcomes and Activity Data 2higi Launches Seamless Access to HIPAA-Compliant Health Outcomes and Activity Data 3DERMALOG AFIS Emerges as Performance Winner in NIST Benchmark Test 2DERMALOG AFIS Emerges as Performance Winner in NIST Benchmark Test 3
... scientific conditions and measures, Johns Hopkins researchers have ... can induce mystical/spiritual experiences descriptively identical to spontaneous ... The resulting experiences apparently prompt positive changes in ... least. , The agent, a plant alkaloid ...
... on Long Island have identified which among several different kinds ... the widely prescribed antidepressant Prozac. This discovery might enable a ... side effects, to be developed. , The findings also lay ... how, when, and where new neurons are generated from stem ...
... for the first time that embryonic stem (ES) cells ... capacity to produce viable offspring. The research, published in ... avenues for future studies, including investigation of mechanisms involved ... for infertility. , Previous studies have shown that ES ...
Cached Biology News:Hopkins scientists show hallucinogen in mushrooms creates universal 'mystical' experience 2Hopkins scientists show hallucinogen in mushrooms creates universal 'mystical' experience 3Hopkins scientists show hallucinogen in mushrooms creates universal 'mystical' experience 4Prozac's target revealed 2Sperm created in the laboratory from embryonic stem cells produce viable progeny 2
(Date:4/24/2015)... 24, 2015 Leading Regenerative Veterinary ... its allogeneic stem-cell product development program and changes ... the corporate strategic direction. , “I am extremely ... stem cell development program has been kicked into ... manufacturing facility and hiring of our new Director ...
(Date:4/24/2015)... PRINCETON, N.J. , April 24, 2015  Navitas Life ... Kumar as Head of Clinical and Regulatory Services. Shalabh ... having been a co-founder and CEO of Kinapse, as well ... Logo - http://photos.prnewswire.com/prnh/20150423/201261LOGO ... Jim Tizzard commented "I am delighted to welcome ...
(Date:4/23/2015)... Dora, Florida (PRWEB) April 23, 2015 ... that it intends to conduct a groundbreaking pilot ... begin to be reversed in as little as ... the science of metabolic and nutritional medicine—will aggressively ... that cripple and destroy our aging brain. These ...
(Date:4/23/2015)... 2015 WuXi PharmaTech (Cayman) Inc. (NYSE: ... platform company serving the pharmaceutical, biotechnology and medical device ... and the United States , today ... first quarter of 2015 after the New York Stock ... be Thursday morning, May 14, 2015 Shanghai time). The ...
Breaking Biology Technology:Vet-Stem, Inc. Meets New Milestones and Changes Name to VetStem Biopharma 2Shalabh Kumar Joins Navitas Life Sciences to Lead their Clinical and Regulatory Services Teams 2New Study Looks to Reverse Alzheimer’s Disease 2New Study Looks to Reverse Alzheimer’s Disease 3WuXi PharmaTech Schedules First-Quarter 2015 Earnings Release 2WuXi PharmaTech Schedules First-Quarter 2015 Earnings Release 3
... by Novartis to evaluate safety and efficacy of Albuferon ... patients with genotypes 2 and 3 hepatitis C -ROCKVILLE, ... HGSI ) today announced that Novartis has ... evaluate the safety and efficacy of Albuferon(R) (albinterferon alfa-2b) ...
... 12 /PRNewswire-Asia/ -- Simcere Pharmaceutical Group,(NYSE: ... branded generic,pharmaceuticals and manufacturer of the patented anti-cancer ... today announced preliminary revenue,and earnings for the full ... Based upon preliminary data for the fourth quarter, ...
... Pharmaceuticals, a pioneer in the development of novel products ... disease, announced that Ted Hibben has joined the company ... from Coley Pharmaceutical Group, where he was most recently ... played a key role in the company,s $233 million ...
Cached Biology Technology:Human Genome Sciences Announces Initiation of Phase 2b Trial of Albuferon(R) Dosed Monthly in Chronic Hepatitis C 2Human Genome Sciences Announces Initiation of Phase 2b Trial of Albuferon(R) Dosed Monthly in Chronic Hepatitis C 3Human Genome Sciences Announces Initiation of Phase 2b Trial of Albuferon(R) Dosed Monthly in Chronic Hepatitis C 4Human Genome Sciences Announces Initiation of Phase 2b Trial of Albuferon(R) Dosed Monthly in Chronic Hepatitis C 5Simcere Pharmaceutical Group Announces Preliminary Full Year Revenue and Earnings 2Cequent Names Ted Hibben Chief Business Officer 2Cequent Names Ted Hibben Chief Business Officer 3
Yersinia pestis...
... The features we add to WinList come ... product every day. Features like automatic region ... the result of good suggestions, thoughtful conversations, ... the features you depend on are still ...
Insect Cell Lysis Buffer 50 ml...
Recognizes the VZV nucleocapsid by indirect immunofluorescence and immunoprecipitation. Shows cross-reactivity to HSV....
Biology Products: