Studies on human genome variation provide insight into disease
...ne of every 2,000-4,000 live births and involves a deletion on chromosome 22. The deletion is mediated by rare repetitive sequences that flank genes crucial for proper development of the hear...Technique offers new view of dynamic biological landscape
...t are essential for yeast growth -- whose complete deletion would kill the cell -- the researchers invented a high throughput technique to manipulate the half-life of their messenger RNA (mRNA). Since mRNA is a genetic intermediate during the conversion of a gene to protein, reducing its lifespan by mutating ...New technique multiplies life span in simple organisms
... up to six timeslonger than normal - when the SIR2 deletion was combined withcaloric restriction and/or a mutation in one or two genes, RAS2 andSCH9, that control the storage of nutrients and resistance to celldamage. Human cells with reduced SIR2 activity also appear to confirm thatSIR2 has a pro-aging effec...Deleted genes help predict outcome in a children's cancer
...t not on its shorter "p" arm. Scientists call this deletion of one copy of a chromosome "loss of heterozygosity" (LOH). The unbalanced 11q LOH and the 1p36 LOH were independent markers of worse outcome for patients, regardless of other prognostic clues. For instance, unbalanced 11q LOH occurs almost always in...Genetic analysis of cavefish reveals more about evolution
...ible for pigmentation in the cavefish and that the deletion of a specific exon, or protein- coding DNA sequence, produced albinism. What remains a mystery is why the same gene should be mutated independently in all three populations when other genes are also known to cause albinism and why it should be ...FDA grants REVLIMID NDA approval
... myelodysplastic syndromes (MDS) associated with a deletion 5q cytogenetic abnormality with or without additional cytogenetic abnormalities. REVLIMID will be available through a REVLIMID Education and Prescribing Safety Program, called RevAssistsm via contracted pharmacies. "The clinical data from a Phase I...JCI table of contents: January 4, 2006
...lant recipients. TITLE : Microchimerism maintains deletion of the donor cellspecific CD8+ T cell repertoire AUTHOR CONTACT: Weldy V. Bonilla Prionics AG, Zurich, Switzerland. Phone: +41-44-200-21-28; Fax: +41-44-200-20-10; E-mail: welbon@gmx.ch . View the PDF of this article at: https://www.the-jci.org/...Tiny RNA molecules fine-tune the brain's synapses
... He notes that loss of Limk1 due to a chromosomal deletion is associated with Williams syndrome, and that the BDNF pathway that activates Limk1 includes proteins that are disabled in tuberous sclerosis and Fragile X syndrome. All three genetic disorders can cause cognitive impairment and autistic-like behavi...Steps made toward overcoming biological obstacles to cell therapy for cancer
...can recognize such tumor antigens but evade thymic deletion are potentially harmful, and thus are held in check inside the body by mechanisms that make them tolerant of the protein even if it is encountered on a tumor cell," said Dr. Philip Greenberg, University of Washington (UW) professor of medicine and im...Biomarkers may hone anti-aging therapies
...hat perhaps there was a specific mitochondrial DNA deletion signature that would be associated with tumor deve.... The investigators searched for mitochondrial DNA deletion mutations in skin samples from patients having non-melanoma skin cancer removed in the Vanderbilt Mo...Minimal genome should be twice the size, study shows
...u make the other essential for survival; each gene deletion reduces the available space for further reduction of the genome. "Including these alternative pathways into the minimal genome almost doubles its size." The researchers have developed a way of predicting bacterial genome content using two bacteria th...New human retrovirus originated in mice
...ous viral genomes have undergone such mutation and deletion that they are incapable of giving rise to viruses any more," said Ganem. "And while some of these viruses had been induced to grow in human cells in culture, the major question is whether such infection could ever happen in nature. "So, one of the th...Major obesity gene is 'lost in the shuffle'
... gene was missing in gibbons. "We found that this deletion occurred between two pieces of DNA that are quite ...ene 'knockout' experiment," Ishida explains. "The deletion or 'knockout' of the ASIP gene may have helped gibbons adapt to arboreal niches. We know that t...Researches discover gene critical for protection against septic-shock-induced death
...thma in mice models. Biswal's team found that the deletion of the Nrf2 gene increased the inflammatory response and caused early death in mice subjected to septic peritonitis or endotoxin shock or both. Mice deficient in Nrf2 gene expressed dramatically increased levels of effector molecules (cytokines) that...News tips from The Journal of Neuroscience
...transfected GluRδ2-deficient PNs with various deletion mutants. The PDZ (postsynaptic density 95/Discs large/zona occludens-1)-binding region was not required for localization to dendritic spines or for LTD. A mutant truncated after the first 21 amino acids of the C terminus rescued LTD, whereas one cont...Genome changes tracked during multiple myeloma initiation, progression and treatment
...nd tumor suppressor genes. These amplification and deletion patterns define new disease subgroups of MM that are characterized by varied dysregulation of distinct cancer-relevant genes and can be correlated with different clinical outcomes. Importantly, several candidate genes identified in this study possess...JCI Table of Contents, April 13, 2006
...ive inhibition, knockout, or mutation of COX-2, or deletion of the receptor for COX-2derived PGI2, accelerates...to COX-2 inhibitors, FitzGerald et al. showed that deletion of mPGES-1 suppressed PGE2 expression, augmented PGI2 expression, but most importantly, affected nei...Cancer cells suppress large regions of DNA by a reversible process that can be tackled
...ly been linked to DNA mutations of single genes or deletion of large sections of the chromosome. However more recently it has become clear that gene silencing in cancer can also occur, in the absence of changes to the DNA sequence: a phenomenon known as 'epigenetics'. DNA methylation is one of the main epigen...New findings help pinpoint autism's genetic roots
...ogical Psychiatry, she described how the selective deletion of MeCP2 in the brains of mice in similar areas as those targeted by Dr. Parada creates many of the features of Rett syndrome that are also observed in autism patients, including reduced social interaction, abnormal repetitive behavior and increase......"as appropriately pointed out by the authors, Pten deletion is restricted to postmitotic neurons in the CNS [central nervous system] in their model, and current evidence suggests that ASD is a developmental rather than a neurodegenerative disorder." Greer and Wynshaw-Boris concluded that "Whether or not the f...