Genetics

Researchers at the University of Utah and other institutions have sequenced for the first time the entire genome of a family, enabling them to accurately estimate the average rate at which parents pass genetic mutations to their offspring and also identify precise locations where parental chromosomes exchange information that creates new combinations of genetic traits in their children...

Discovery of an antibiotic's capacity to improve cell function in laboratory tests is providing movement disorder researchers with leads to more desirable molecules with potentially similar traits, according to University of Alabama scientists co-authoring a paper publishing March 10 in the journal Disease Models & Mechanisms...

Scientists using advanced genomic analysis technologies from Life Technologies Corporation (NASDAQ: LIFE) have sequenced an individual's genome and identified the specific causative mutation associated with Charcot-Marie-Tooth Disease (CMT), one of the most common inherited neurological disorders currently affecting 1 in 2,500 individuals in the United States...

The Institute for Systems Biology (ISB) has analyzed the first whole genome sequences of a human family of four. The findings of a project funded through a partnership between ISB and the University of Luxembourg was published online today by Science on its Science Express website...

If you can imagine identical twin sisters at rest, their breath drawing them subtly together and apart, who somehow latch onto ropes that pull them to opposite sides of the bed - you can imagine what happens to a chromosome in the dividing cell...

About four out of every 10 cells in the brain are so-called oligodendrocytes. These cells produce the all-important myelin that coats nerve tracts, ensuring fast, energy-efficient transmission of nerve impulses...

Amsterdam Molecular Therapeutics (Euronext: AMT), a leader in the field of human gene therapy, announced that the first patient has been dosed in the Phase I/II exploratory clinical trial with a gene therapy product for hemophilia B, a seriously debilitating and potentially lethal disease...

Our DNA contains the information needed to produce different proteins that are the building blocks and key components of cells. Instructions to synthesize such proteins are incorporated into DNA sequences defined as genes. This precious genetic material, however, never leaves the cell's stronghold nucleus...

The C.S...

The Vilcek Foundation is pleased to announce the granting of the 2010 Vilcek Prize for Biomedical Science to Dr. Alexander Varshavsky, the Howard & Gwen Laurie Smits Professor of Cell Biology at California Institute of Technology, for elucidating the process and biological significance of regulated protein degradation in living cells...

Shahriar Koochekpour, MD, PhD, Assistant Professor of Microbiology and Immunology, Biochemistry and Molecular Biology, and Genetics at LSU Health Sciences Center New Orleans, led research that has discovered, for the first time, a genetic mutation in African-American men with a family history of prostate cancer who are at increased risk for the disease. Dr...

Researchers from four laboratories that perform diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities recently identified a previously unrecognized genetic disorder...

In a case believed to be a United States first, the radiology team at Lucile Packard Children's Hospital has used prenatal magnetic resonance imaging to detect an often-misdiagnosed genetic disease. The disorder, congenital chloride diarrhea, can cause severe dehydration and serious metabolic disturbances in newborns if not treated quickly...

Background: Approximately 35% of human genes contain introns within the 5' untranslated region (UTR). Introns in 5'UTRs differ from those in coding regions and 3'UTRs with respect to nucleotide composition, length distribution and density. Despite their presumed impact on gene regulation, the evolution and possible functions of 5'UTR introns remain largely unexplored. Results: We performed a genome-scale computational analysis of 5'UTR introns in humans. We discovered that the most highly expressed genes tended to have short 5'UTR introns rather than having long 5'UTR introns or lacking 5'UTR introns entirely. Although we found no correlation in 5'UTR intron presence or length with variance in expression across tissues, which might have indicated a broad role in expression-regulation, we observed an uneven distribution of 5'UTR amongst genes in specific functional categories. In particular, genes with regulatory roles were surprisingly enriched in having 5'UTR introns. Finally, we analyzed the evolution of 5'UTR introns in non-receptor protein tyrosine kinases (NRTK), and identified a conserved DNA motif enriched within the 5'UTR introns of human NRTKs. Conclusions: Our results suggest that human 5'UTR introns enhance the expression of some genes in a length-dependent manner. While many 5'UTR introns are likely to be evolving neutrally, their relationship with gene expression and overrepresentation among regulatory genes, taken together, suggest that complex evolutionary forces are acting on this distinct class of introns.

A Princeton University-led research team has discovered that protein competition over an important enzyme provides a mechanism to integrate different signals that direct early embryonic development. The work suggests that these signals are combined long before they interact with the organism's DNA, as was previously believed, and also may inform new therapeutic strategies to fight cancer...

Individuals with a certain type of genetic susceptibility to lung cancer face a greatly increased risk for the deadly disease with even a small exposure to cigarette smoke, a study team that includes researchers from the University of Cincinnati (UC) has concluded...

Sonic hedgehog, a gene that plays a crucial rule in the positioning and growth of limbs, fingers and toes, has been confirmed in an unexpected place in the embryos of developing mice - the layer of cells that creates the skin. Named for a video game character, Sonic hedgehog describes both a gene and the protein it produces in the body...

The potentially deadly yellow-fever-transmitting Aedes aegypti mosquito detects the specific chemical structure of a compound called octenol as one way to find a mammalian host for a blood meal, Agricultural Research Service (ARS) scientists report...

Background: Previous studies on the effects of aging in human and mouse mesenchymal stem cells suggest that a decline in the number and differentiation potential of stem cells may contribute to aging and aging-related diseases. In this report, we used stromal cells isolated from adipose tissue (ADSCs) of young (8-10 weeks), adult (5 months), and old (21 months) mice to test the hypothesis that mechanical loading modifies aging-related changes in the self-renewal and osteogenic and adipogenic differentiation potential of these cells. Results: We show that aging significantly reduced the proliferation and increased the adipogenesis of ADSCs, while the osteogenic potential is not significantly reduced by aging. Mechanical loading (10% cyclic stretching, 0.5 Hz, 48 h) increased the subsequent proliferation of ADSCs from mice of all ages. Although the number of osteogenic colonies with calcium deposition was increased in ADSCs subjected to pre-strain, it resulted from an increase in colony number rather than from an increase in osteogenic potential after strain. Pre-strain significantly reduced the number of oil droplets and the expression of adipogenic marker genes in adult and old ADSCs. Simultaneously subjecting ADSCs to mechanical loading and adipogenic induction resulted in a stronger inhibition of adipogenesis than that caused by pre-strain. The reduction of adipogenesis by mechanical strain was loading-magnitude dependent: loading with 2% strain only resulted in a partial inhibition, and loading with 0.5% strain could not inhibit adipogenesis in ADSCs. Conclusions: We demonstrate that mechanical stretching counteracts the loss of self-renewal in aging ADSCs by enhancing their proliferation and, at the same time, reduces the heightened adipogenesis of old cells. These findings are important for the further study of stem cell control and treatment for a variety of aging related diseases.

Diploid genomes with divergent chromosomes present special problems for assembly software as two copies of especially polymorphic regions may be mistakenly constructed, creating the appearance of a recent segmental duplication. We developed a method for identifying such false duplications and applied it to four vertebrate genomes. For each genome, we corrected mis-assemblies, improved estimates of the amount of duplicated sequence, and recovered polymorphisms between the sequenced chromosomes.