60http://blog.bassenkornzweigfoundation.orgThu, 29 Jul 2010 11:10:06 GMTThu, 29 Jul 2010 11:10:06 GMTenGenetics AllianceFamily Health HistoryIt is easy and free to build your Family Health History. Be aware and stay informed about what diseases run in your family. Build your Family Health History today.It is easy and free to build your Family Health History. Be aware and stay informed about what diseases run in your family. Build your Family Health History today.info@bassenkornzweigfoundation.orgnohttp://blog.bassenkornzweigfoundation.org/2010/04/18/marker-indicating-the-developmental-potential-of-stem-cells-discovered-by-chinese-scientists.aspx?ref=rssBassen Kornzweig FoundationResearchers in China are reporting that they have found a way to determine which somatic cells -- or differentiated body cells -- that have been reprogrammed into a primordial, embryonic-like state are the most viable for therapeutic applications. In a paper published online last week by the Journal of Biological Chemistry, two collaborating teams from institutes at the Chinese Academy of Sciences point to a marker they found in induced-pluripotent stem cells, or iPS cells, taken from mice. That marker is a cluster of small RNA whose expression appears strictly correlated with levels of pluripotency, or "stemness." (The more pluripotent, ...Geneticshttp://blog.bassenkornzweigfoundation.org/2010/04/18/marker-indicating-the-developmental-potential-of-stem-cells-discovered-by-chinese-scientists.aspx#Comments2be86ff2-4f94-4014-b08f-cfdae490b083Sun, 18 Apr 2010 22:59:18 GMThttp://blog.bassenkornzweigfoundation.org/2010/04/18/repairing-the-gene-responsible-for-duchenne-muscular-dystrophy.aspx?ref=rssBassen Kornzweig FoundationResearchers from Universite Laval's Faculty of Medicine and the CHUQ Research Center have proven that it is possible to repair the defective gene responsible for Duchenne muscular dystrophy. The team, led by Professor Jacques P. Tremblay, is presenting its new therapeutic approach in an article published in the online version of the scientific journalGene Therapy. Duchenne muscular dystrophy is a hereditary disease affecting one in 3,500 males. It causes progressive muscle degeneration that begins in early childhood and causes death by age 25 in most people afflicted. The disease is caused by mutations that affect a protein called "dystrophin." The ...Geneticshttp://blog.bassenkornzweigfoundation.org/2010/04/18/repairing-the-gene-responsible-for-duchenne-muscular-dystrophy.aspx#Commentsf9021573-662b-4c6a-b3a1-ae639a49acb8Sun, 18 Apr 2010 22:57:25 GMThttp://blog.bassenkornzweigfoundation.org/2010/01/08/correcting-for-cryptic-relatedness-by-a-regressionbased-genomic-control-method.aspx?ref=rssBassen Kornzweig FoundationAbstract Background Genomic control (GC) method is a useful tool to correct for the cryptic relatedness in population-based association studies. It was originally proposed for correcting for the variance inflation of Cochran-Armitage's additive trend test by using information from unlinked null markers, and was later generalized to be applicable to other tests with the additional requirement that the null markers are matched with the candidate marker in allele frequencies. However, matching allele frequencies limits the number of available null markers and thus limits the applicability of the GC method. On ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2010/01/08/correcting-for-cryptic-relatedness-by-a-regressionbased-genomic-control-method.aspx#Commentsb4641829-8bae-457f-b481-4987c9bfab82Fri, 08 Jan 2010 13:59:00 GMThttp://blog.bassenkornzweigfoundation.org/2010/01/08/haplotypes-of-the-porcine-peroxisome-proliferatoractivated-receptor-delta-gene-are-associated-with-backfat-thickness.aspx?ref=rssBassen Kornzweig FoundationAbstract Background Peroxisome proliferator-activated receptor delta belongs to the nuclear receptor superfamily of ligand-inducible transcription factors. It is a key regulator of lipid metabolism. The peroxisome proliferator-activated receptor delta gene (PPARD) has been assigned to a region on porcine chromosome 7, which harbours a quantitative trait locus for backfat. Thus, PPARD is considered a functional and positional candidate gene for backfat thickness. The purpose of this study was to test this candidate gene hypothesis in a cross of breeds that were highly divergent in lipid deposition characteristics. Results Screening for genetic variation in porcine PPARD revealed only silent mutations. Nevertheless, ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2010/01/08/haplotypes-of-the-porcine-peroxisome-proliferatoractivated-receptor-delta-gene-are-associated-with-backfat-thickness.aspx#Commentsc3d4bc70-df42-4cdb-9ae1-a7de22632802Fri, 08 Jan 2010 13:58:00 GMThttp://blog.bassenkornzweigfoundation.org/2010/01/08/a-modifier-screen-in-the-drosophila-eye-reveals-that-apkc-interacts-with-glued-during-central-synapse-formation.aspx?ref=rssBassen Kornzweig FoundationAbstract Background The Glued gene of Drosophila melanogaster encodes the homologue of the vertebrate p150Glued subunit of dynactin. The Glued1 mutation compromises the dynein-dynactin retrograde motor complex and causes disruptions to the adult eye and the CNS, including sensory neurons and the formation of the giant fiber system neural circuit. Results We performed a 2-stage genetic screen to identify mutations that modified phenotypes caused by over-expression of a dominant-negative Glued protein. We screened over 34,000 flies and isolated 41 mutations that enhanced or suppressed an eye phenotype. Of these, 12 ...Geneticshttp://blog.bassenkornzweigfoundation.org/2010/01/08/a-modifier-screen-in-the-drosophila-eye-reveals-that-apkc-interacts-with-glued-during-central-synapse-formation.aspx#Comments45a60cbe-f475-4c7b-b925-13b82651f78fFri, 08 Jan 2010 13:56:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/gene-map-becomes-a-luxury-item.aspx?ref=rssBassen Kornzweig FoundationOn a cold day in January, Dan Stoicescu, a millionaire living in Switzerland, became the second person in the world to buy the full sequence of his own genetic code.He is also among a relatively small group of individuals who could afford the $350,000 price tag.Mr. Stoicescu is the first customer of Knome, a Cambridge-based company that has promised to parse his genetic blueprint by spring. A Chinese executive has signed on for the same service with Knome’s partner, the Beijing Genomics Institute, the company said. Scientists have so far unraveled only a ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/gene-map-becomes-a-luxury-item.aspx#Commentsb51edacc-87c5-41f6-b5e9-8ac9b4f16581Wed, 23 Dec 2009 03:32:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/taking-a-peek-at-the-experts-genetic-secrets.aspx?ref=rssBassen Kornzweig FoundationBOSTON — Is Esther Dyson, the technology venture capitalist who is training to be an astronaut, genetically predisposed to a major heart attack? Does Steven Pinker, the prominent psychologist and author, have a gene variant that raises his risk of Alzheimer’s, which his grandmother suffered from, to greater than 50 percent? Did Misha Angrist, an assistant professor at Duke University, inherit a high risk of breast cancer, which he may have passed on to his young daughters? On Monday, they may learn the answers to these and other questions — and, if all goes according ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/taking-a-peek-at-the-experts-genetic-secrets.aspx#Comments42b77414-135f-4923-a9c6-409581b46695Wed, 23 Dec 2009 03:30:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/computational-process-zeroes-in-on-top-genetic-cancer-suspects.aspx?ref=rssBassen Kornzweig FoundationScienceDaily (Sep. 2, 2009) — Johns Hopkins engineers have devised innovative computer software that can sift through hundreds of genetic mutations and highlight the DNA changes that are most likely to promote cancer. The goal is to provide critical help to researchers who are poring over numerous newly discovered gene mutations, many of which are harmless or have no connection to cancer. According to its inventors, the new software will enable these scientists to focus more of their attention on the mutations most likely to trigger tumors.A description of the method and ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/computational-process-zeroes-in-on-top-genetic-cancer-suspects.aspx#Comments35374781-d255-45e8-97ee-1d73f3ad8ac8Wed, 23 Dec 2009 03:28:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/flu-healthcare-overhaul-debate-top-2009-health-stories.aspx?ref=rssBassen Kornzweig FoundationWhether they wanted to or not, many Americans learned a lot about the state of their health care this year. High unemployment, the swine-flu pandemic and growing political momentum for a health-system overhaul made 2009 a high-stakes year for health care, with 2010 poised to carry on a few big themes. What to do about spiraling costs dominated the discussion at kitchen tables and bargaining tables across the country this year. Here are the key developments over the last year and what may ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/flu-healthcare-overhaul-debate-top-2009-health-stories.aspx#Commentscefd2f2c-008c-46b0-9730-4d5e41a2187bWed, 23 Dec 2009 03:26:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/100-amazing-things-you-never-knew-about-your-body.aspx?ref=rssBassen Kornzweig FoundationYou think you’re learning everything you can in your biology and anthropology classes, but textbook editors simply don’t have all the space they need to give you the full story of your body. Some of the facts below are trivial, some are ancient history, and some of them may very well save your life one day. So read up, and enjoy this wild and whacky anatomical analysis. Unusual Facts You’ll probably wonder why you never heard these cool facts in biology class before. From hangover cures to exploding head syndrome, these ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/100-amazing-things-you-never-knew-about-your-body.aspx#Comments62233103-b361-4670-83d5-6285dfbf164aWed, 23 Dec 2009 03:22:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/haplotypes-of-the-porcine-peroxisome-proliferatoractivated-receptor-delta-gene-are-associated-with-backfat-thickness.aspx?ref=rssBassen Kornzweig FoundationBackground Peroxisome proliferator-activated receptor delta belongs to the nuclear receptor superfamily of ligand-inducible transcription factors. It is a key regulator of lipid metabolism. The peroxisome proliferator-activated receptor delta gene (PPARD) has been assigned to a region on porcine chromosome 7, which harbours a quantitative trait locus for backfat. Thus, PPARD is considered a functional and positional candidate gene for backfat thickness. The purpose of this study was to test this candidate gene hypothesis in a cross of breeds that were highly divergent in lipid deposition characteristics. Results Screening for genetic variation in porcine PPARD revealed only silent mutations. Nevertheless, significant ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/haplotypes-of-the-porcine-peroxisome-proliferatoractivated-receptor-delta-gene-are-associated-with-backfat-thickness.aspx#Comments3e20c492-0992-4aab-b5b8-37e84b0f6b3eWed, 23 Dec 2009 03:05:00 GMTHaplotypes of the porcine peroxisome proliferator-activated receptor delta gene are associated with backfat thicknessnono00:00:00http://blog.bassenkornzweigfoundation.org/2009/12/22/a-modifier-screen-in-the-drosophila-eye-reveals-that-apkc-interacts-with-glued-during-central-synapse-formation.aspx?ref=rssBassen Kornzweig FoundationBackground The Glued gene of Drosophila melanogaster encodes the homologue of the vertebrate p150Glued subunit of dynactin. The Glued1 mutation compromises the dynein-dynactin retrograde motor complex and causes disruptions to the adult eye and the CNS, including sensory neurons and the formation of the giant fiber system neural circuit. Results We performed a 2-stage genetic screen to identify mutations that modified phenotypes caused by over-expression of a dominant-negative Glued protein. We screened over 34,000 flies and isolated 41 mutations that enhanced or suppressed an eye phenotype. Of these, 12 were assayed for interactions in the giant fiber system by which ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/a-modifier-screen-in-the-drosophila-eye-reveals-that-apkc-interacts-with-glued-during-central-synapse-formation.aspx#Commentsa95625b4-05ed-4444-8176-7e2bde484388Wed, 23 Dec 2009 03:04:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/evidence-for-adarinduced-hypermutation-of-the-drosophila-sigma-virus-rhabdoviridae.aspx?ref=rssBassen Kornzweig FoundationBackground ADARs are RNA editing enzymes that target double stranded RNA and convert adenosine to inosine, which is read by translation machinery as if it were guanosine. Aside from their role in generating protein diversity in the central nervous system, ADARs have been implicated in the hypermutation of some RNA viruses, although why this hypermutation occurs is not well understood. Results Here we describe the hypermutation of adenosines to guanosines in the genome of the sigma virus--a negative sense RNA virus that infects Drosophila melanogaster. The clustering of these mutations and the context in which they occur indicates that they ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/evidence-for-adarinduced-hypermutation-of-the-drosophila-sigma-virus-rhabdoviridae.aspx#Commentse047e00d-eb07-438e-8795-50141bd3c6d3Wed, 23 Dec 2009 03:03:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/cytogenetic-studies-in-eigenmannia-virescens-sternopygidae-gymnotiformes-and-new-inferences-on-the-origin-of-sex-chromosomes-in-the-eigenmannia-genus.aspx?ref=rssBassen Kornzweig FoundationBackground Cytogenetic studies were carried out on samples of Eigenmannia virescens (Sternopygidae, Gymnotiformes) obtained from four river systems of the Eastern Amazon region (Para, Brazil). Results All four populations had 2n = 38, with ZZ/ZW sex chromosomes (Z, acrocentric; W, submetacentric). Constitutive heterochromatin (CH) was found at the centromeric regions of all chromosomes. The W chromosome had a heterochromatic block in the proximal region of the short arm; this CH was positive for DAPI staining, indicating that it is rich in A-T base pairs. The nucleolar organizer region (NOR) was localized to the short arm of chromosome pair 15; this ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/cytogenetic-studies-in-eigenmannia-virescens-sternopygidae-gymnotiformes-and-new-inferences-on-the-origin-of-sex-chromosomes-in-the-eigenmannia-genus.aspx#Comments1dbac4d9-0c41-44c2-96db-46fdd02dc772Wed, 23 Dec 2009 03:03:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/hypermethylation-of-the-dlc1-cpg-island-does-not-alter-gene-expression-in-canine-lymphoma.aspx?ref=rssBassen Kornzweig FoundationBackground This study is a comparative epigenetic evaluation of the methylation status of the DLC1 tumor suppressor gene in naturally-occurring canine lymphoma. Canine non-Hodgkin's lymphoma (NHL) has been proposed to be a relevant preclinical model that occurs spontaneously and may share causative factors with human NHL due to a shared home environment. The canine DLC1 mRNA sequence was derived from normal tissue. Using lymphoid samples from 21 dogs with NHL and 7 normal dogs, the methylation status of the promoter CpG island of the gene was defined for each sample using combined bisulfite restriction analysis (COBRA), methylation-specific PCR (MSP), and ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/hypermethylation-of-the-dlc1-cpg-island-does-not-alter-gene-expression-in-canine-lymphoma.aspx#Comments444b456f-1508-4962-9945-7d2b8f67b3ebWed, 23 Dec 2009 03:02:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/composite-likelihood-estimation-of-demographic-parameters.aspx?ref=rssBassen Kornzweig FoundationBackground Most existing likelihood-based methods for fitting historical demographic models to DNA sequence polymorphism data to do not scale feasibly up to the level of whole-genome data sets. Computational economies can be achieved by incorporating two forms of pseudo-likelihood: composite and approximate likelihood methods. Composite likelihood enables scaling up to large data sets because it takes the product of marginal likelihoods as an estimator of the likelihood of the complete data set. This approach is especially useful when a large number of genomic regions constitutes the data set. Additionally, approximate likelihood methods can reduce the dimensionality of the data by ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/composite-likelihood-estimation-of-demographic-parameters.aspx#Comments4aced645-8f75-44bb-ae93-25cda7de58f5Wed, 23 Dec 2009 03:01:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/developing-a-set-of-ancestrysensitive-dna-markers-reflecting-continental-origins-of-humans.aspx?ref=rssBassen Kornzweig FoundationBackground The identification and use of Ancestry-Sensitive Markers (ASMs), i.e. genetic polymorphisms facilitating the genetic reconstruction of geographical origins of individuals, is far from straightforward. Results Here we describe the ascertainment and application of five different sets of 47 single nucleotide polymorphisms (SNPs) allowing the inference of major human groups of different continental origin. For this, we first used 74 cell lines, representing human males from six different geographical areas and screened them with the Affymetrix Mapping 10K assay. In addition to using summary statistics estimating the genetic diversity among multiple groups of individuals defined by geography or language, we ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/developing-a-set-of-ancestrysensitive-dna-markers-reflecting-continental-origins-of-humans.aspx#Commentsee2fe202-c792-446b-9892-dc2d0c63380fWed, 23 Dec 2009 03:01:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/microsatellite-markers-of-water-buffalo-bubalus-bubalis--development-characterisation-and-linkage-disequilibrium-studies.aspx?ref=rssBassen Kornzweig FoundationBackground Microsatellite markers are highly polymorphic and widely used in genome mapping and population genetic studies in livestock species. River buffalo, Bubalus bubalis is an economically important livestock species, though only a limited number of microsatellite markers have been reported thus far in this species. Results In the present study, using two different approaches 571 microsatellite markers have been characterized for water buffalo. Of the 571 microsatellite markers, 498 were polymorphic with average heterozygosity of 0.51 on a panel of 24 unrelated buffalo. Fisher exact test was used to detect LD between the marker pairs. Among the 137550 pairs of ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/microsatellite-markers-of-water-buffalo-bubalus-bubalis--development-characterisation-and-linkage-disequilibrium-studies.aspx#Commentsc66a26d3-1193-456a-94c2-bbd3010777feWed, 23 Dec 2009 03:00:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/22/large-introns-in-relation-to-alternative-splicing-and-gene-evolution-a-case-study-of-drosophila-bruno3.aspx?ref=rssBassen Kornzweig FoundationBackground Alternative splicing (AS) of maturing mRNA can generate structurally and functionally distinct transcripts from the same gene. Recent bioinformatic analyses of available genome databases inferred a positive correlation between intron length and AS. To study the interplay between intron length and AS empirically and in more detail, we analyzed the diversity of alternatively spliced transcripts (ASTs) in the Drosophila RNA-binding Bruno-3 (Bru-3) gene. This gene was known to encode thirteen exons separated by introns of diverse sizes, ranging from 71 to 41,973 nucleotides in D. melanogaster. Although Bru-3's structure is expected to be conducive to AS, only two ASTs ...GeneticsFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/22/large-introns-in-relation-to-alternative-splicing-and-gene-evolution-a-case-study-of-drosophila-bruno3.aspx#Comments5af9dd3a-78ec-4ea4-a9d4-ff0c9694a08aWed, 23 Dec 2009 02:59:00 GMThttp://blog.bassenkornzweigfoundation.org/2009/12/16/win-100-cash.aspx?ref=rssBassen Kornzweig FoundationWell I am finally ready to start writing again and I want to involve my followers on this blog and twitter. So here goes: I am looking for people who can write the most inspiring story about their life of how you overcame either medical, life challenges, divorce children, death, whatever but please real stories. Here are the rules: Anyone can enter this contest. If you are under the age of 18 you need to provide me with your phone number and the name of your parents so that I can get permission from ...Jamil UpdatesFoundation UpdatesBassen Kornzweighttp://blog.bassenkornzweigfoundation.org/2009/12/16/win-100-cash.aspx#Commentse7ca126f-24b0-401f-b906-ad42085e3d25Thu, 17 Dec 2009 05:02:00 GMT