Navigation Links
New findings on gene regulation and bone development
Date:11/5/2012

The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers). Three years ago Dr. Philipp G. Maass from the research group of Professor Friedrich C. Luft at the Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charit Medical Faculty and the Max Delbrck Center for Molecular Medicine (MDC) in Berlin-Buch, has discovered an epigenetic mechanism, which, when dysregulated, causes this condition. Now, together with Dr. Sylvia Bhring (ECRC) he was able to show how this epigenetic regulator functions and influences the development of the skeleton and the extremities. Also, he shed light on a new principle of gene regulation (Journal of Clinical Investigation, doi: 10.1172/JCI65508)*.

The gene causing brachydactyly type E (BDE) is PTHLH (the abbreviation stands for parathyroid hormone like hormone), and belongs to a group of genes that regulate the development of cartilage and determine subsequent skeletal structure. The researchers investigated two families with BDE. The patients exhibit shortened metacarpals, involved in forming the hands and feet, but had no other clinical symptoms.

Up to now, more than ten different forms of brachydactyly are known. The features of the hands and feet are variable depending upon which type of brachydactyly a patient has. Sometimes, the brachydactyly can be associated with hypertension, mental retardation, or other medical problems.

Several new findings

The gene PTHLH is located on chromosome 12, one of the 46 chromosomes of the human genome. The gene exerts considerably influence on cartilage during development and early life. However, little was known about the regulation of this gene. Now, Dr. Maass, Dr. Bhring and Professor Luft have detected an epigenetic regulator for the gene PTHLH on chromoso
'/>"/>

Contact: Bachtler, Barbara
bachtler@mdc-berlin.de
49-309-406-3896
Helmholtz Association of German Research Centres
Source:Eurekalert

Page: 1 2 3 4

Related biology news :

1. New findings on protein misfolding
2. Blue Ribbon Panel unveils findings on logistical improvements to support Antarctic science
3. ACRG and BGI report findings from genomics research on recurrent hepatitis B virus integration
4. Major advances in understanding the regulation and organization of the human genome
5. A new light shed on genetic regulations role in the predisposition to common diseases
6. Research reveals unique solution to gene regulation
7. Protein involved in DNA replication, centrosome regulation linked to dwarfism, small brain size
8. International regulation curbs illegal trade of caviar
9. Probing the roots of depression by tracking serotonin regulation at a new level
10. Regulation of telomerase in stem cells and cancer cells
11. BUSM study shows role of cellular protein in regulation of binge eating
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/11/2014)... OAK RIDGE, Tenn., July 11, 2014--Researchers at the ... received eight R&D 100 awards, presented by R&D ... innovations. , "These awards recognize the tremendous ... Energy Ernest Moniz. "Research and development at the ... its energy challenges and pursue the scientific and ...
(Date:7/11/2014)... a new professorship in tissue engineering to promote ... Engineering and the Marine Biological Laboratory, supported by ... Eugene Bell Foundation., The Eugene Bell Professorship in ... Molecular Engineering. That endowed chair holder also will ... Bell Center for Regenerative Biology and Tissue Engineering, ...
(Date:7/11/2014)... July 10, 2014---A team of researchers from The Chinese ... identified a gene of wild soybean linked to salt ... grow in saline soil. This study published online in ... unveil novel genomic information for crop improvement. , Soybean ... domestication and human selection, cultivated soybeans have less genetic ...
Breaking Biology News(10 mins):ORNL wins eight R&D 100s 2ORNL wins eight R&D 100s 3ORNL wins eight R&D 100s 4New professorship in tissue engineering links molecular engineering, marine biology 2BGI reports a novel gene for salt tolerance found in wild soybean 2
... Radiology member Barry T. Katzen, M.D., FSIR, an ... Baptist Cardiac & Vascular Institute in Miami, Fla., ... H. Jacobson II MD Award for Physician Excellence. ... education, leadership or patient care in vascular disease. ...
... WASHINGTON It is unlikely the United States will ... Fuel Standard by 2022 unless innovative technologies are developed ... from the National Research Council, which adds that the ... greenhouse gas emissions. Achieving this standard would likely ...
... TAT peptide, are able to enter cells using a ... process by which cells internalize molecules by engulfing them. ... the cellular transfer of various molecular cargoes, from small ... DNA. Because of this ability, CPPs hold great potential ...
Cached Biology News:Society of Interventional Radiology member receives award for career contributions 2Society of Interventional Radiology member receives award for career contributions 3Certain biofuel mandates unlikely to be met by 2022; unless new technologies, policies developed 2Certain biofuel mandates unlikely to be met by 2022; unless new technologies, policies developed 3Certain biofuel mandates unlikely to be met by 2022; unless new technologies, policies developed 4UCLA study shows cell-penetrating peptides for drug delivery act like a Swiss Army Knife 2UCLA study shows cell-penetrating peptides for drug delivery act like a Swiss Army Knife 3
(Date:7/10/2014)... Understanding the need for better quality and higher ... that currently exists in this area, ChanTest has recently ... validated ion channel and GPCR cell lines. ChanTest’s ... channels control many critical physiological functions throughout the body. ... to treat a variety of human diseases. , ...
(Date:7/10/2014)... Unraveling life’s mysteries can intrigue, amaze, and ... purchased a DNA test to unravel the ... a lifetime of memories, sharing, and closeness. In fact, ... genuinely brought the family closer together. , Recently, ... history and prior to taking the genetic ancestry ...
(Date:7/10/2014)... OMICS Group’s 5th International conference and exhibition ... at Double Tree by Hilton Beijing, China is all ... & Bioanalytical research methods only to facilitate improved living ... Dr. Srinubabu Gedela, MD of OMICS Group Inc has ... one in bringing a unique and international mix of ...
(Date:7/10/2014)... July 10, 2014 Senior supply chain ... professional associations, addressed the challenges of “Reducing Cost, Lead ... Industries” through strategic sourcing. Describing the partnership of the ... Supply Chain Management Institute ( SCMI) of the ... June 24 at the Kroc Institute of Peace and ...
Breaking Biology Technology:Leader in Ion Channel Research Announces Newly Validated and Re-Engineered Cells 2Leader in Ion Channel Research Announces Newly Validated and Re-Engineered Cells 3Ancestry DNA Test Reveals a Controversial and Undiscovered Family History 2Ancestry DNA Test Reveals a Controversial and Undiscovered Family History 3Ancestry DNA Test Reveals a Controversial and Undiscovered Family History 4Ancestry DNA Test Reveals a Controversial and Undiscovered Family History 5A Critical Review of Analytical Techniques for Improved Living Standards 2A Critical Review of Analytical Techniques for Improved Living Standards 3A Critical Review of Analytical Techniques for Improved Living Standards 4Biotech & Biopharm Supply Chain Management Executives Launch BSMA in San Diego 2Biotech & Biopharm Supply Chain Management Executives Launch BSMA in San Diego 3Biotech & Biopharm Supply Chain Management Executives Launch BSMA in San Diego 4
...
X-Gal, 100 mg. 5-Bromo-4-chloro-3-indolyl-b-d-galactoside.Histochemical substrate for b-galactosidase, used in blue/white screening.Store at -20 C. Protect from moisture. Category: Nucleotides & Enzy...
...
RayBio L Series 507: RayBio Label-based Antibody Array I (2 membranes) Class: Antibody Array Products Product Group: Antibody Array...
Biology Products: