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Paper  - Ran Blekhman
Paper - Ran Blekhman

... Changes in gene regulation may be important in evolution. However, the evolutionary properties of regulatory mutations are currently poorly understood. This is partly the result of an incomplete annotation of functional regulatory DNA in many species. For example, transcription factor binding sites ...
You`re one in a googol: optimizing genes for protein expression
You`re one in a googol: optimizing genes for protein expression

... acid composition could be encoded by more than 10100 different gene sequences. If the codon choice at each position is considered an independent variable, the possibilities would be distributed over an intractable, high-dimensional sequence space. Methodical gene optimization is thus only practical ...
Molecular genetics of nucleotide sugar interconversion pathways in
Molecular genetics of nucleotide sugar interconversion pathways in

Pierce chapter 9
Pierce chapter 9

... – If crossing over occurs within loop: – Creates a dicentric chromosome and an acentric chromosome • Acentric is lost • Dicentric forms a dicentric bridge, and breaks • Nonviable recombinant ...
A forkhead-domain gene is mutated in a severe speech and
A forkhead-domain gene is mutated in a severe speech and

... A significant number of the mutations identified in FOX genes are missense changes, and all of these result in substitution at residues in the forkhead domain17-19, 23, 24, as observed here for FOXP2 (Fig. 4). Frameshift and nonsense mutations yielding truncated protein products that lack a forkhead ...
2007-06_gene-expression-analysis_JL
2007-06_gene-expression-analysis_JL

... Jane Lomax ...
Using Ontology Graphs to Understand Annotations and Reason about Them
Using Ontology Graphs to Understand Annotations and Reason about Them

... Open Biomedical Ontologies (OBO) is an umbrella repository for well-structured controlled vocabularies for shared use across different biological and medical domains [1]. The OBO website contains a range of ontologies that are designed for biomedical domains. Some of the OBO ontologies, such as the ...
Identification of the Minus-Dominance Gene Ortholog in
Identification of the Minus-Dominance Gene Ortholog in

... has a mating-type (MT) locus harboring several mating-type-specific genes, including one involved in mating-type determination and another involved in the function of the tubular mating structure in only one of the two isogametes. In this study, as the first step in identifying the G. pectorale MT l ...
Genetics Problems
Genetics Problems

... What evidence for linkage is shown in this cross? Give the percentage of recombination and the. map distance between the genes. 29. In Drosophila melanogaster, the genes for bristle shape and for eye color are known to be about 20 units apart on the same chromosome. Individuals homozygous dominant f ...
Genoplante 2007, ANR-07-GPLA-002
Genoplante 2007, ANR-07-GPLA-002

... 8.  Charles, H., S. Balmand, A. Lamelas, L. Cottret, V. Perez-Brocal, B. Burdin, A. Latorre, G. Febvay, S. Colella, F. Calevro and Y. Rahbe (2011). “A genomic reappraisal of symbiotic function in the aphid/buchnera symbiosis: reduced transporter sets and variable membrane organisations.” PLoS One 6( ...
Sequencing technology does not eliminate biological
Sequencing technology does not eliminate biological

... of the total variability for each gene that is attributable to biology by applying a mixed effects model to data from the sequencing (11 samples) and DNA microarray (14 samples) experiments for which we had two technical replicates. In general, most of the observed variation was biological, rather t ...
The dystrophin / utrophin homologues in Drosophila and in sea urchin
The dystrophin / utrophin homologues in Drosophila and in sea urchin

... which are extremely large. The product of the gene in muscle, dystrophin, is a 427 kDa protein. The same gene encodes at least two additional non-muscle full length dystrophin isoforms transcribed from different promoters located in the 5 0 -end region of the gene, and four smaller proteins transcri ...
1 Gene trees and species trees The lines of organismal descent that
1 Gene trees and species trees The lines of organismal descent that

... nucleotides in the current generation will ultimately coalesce to a single ancestral lineage. As a general rule, the smaller the population, the more quickly coalescence occurs. Thus in a small population lineage, you will typically not need to look far back in time to find a common ancestor of all ...
Somatic MEN1 gene mutation does not contribute
Somatic MEN1 gene mutation does not contribute

... abnormalities have been described in these sporadic tumours. For example, a mutation in the GSP gene occurs in about 1/3 of somatotrophic adenomas, but is rarely found in other pituitary tumour types (1). Other candidate oncogenes and tumour suppressor genes may play a role in the formation of pitui ...
Naming `junk`: Human non-protein coding RNA (ncRNA) gene
Naming `junk`: Human non-protein coding RNA (ncRNA) gene

... shown to be essential for a variety of vital functions, and this wealth of annotated human ncRNAs requires standardised naming in order to aid effective communication. The HUGO Gene Nomenclature Committee (HGNC) is the only organisation authorised to assign standardised nomenclature to human genes. ...
a hint of the same genetic defect as in Fechtner syndrome
a hint of the same genetic defect as in Fechtner syndrome

... Our work sheds more light on the genetics of giant platelet syndromes that are actually a part of the Alport-like syndromes. An updated comparison between the Alport-like families—the X-linked and recessive forms of Alport syndrome—is illustrated in Table 2. The fact that all giant platelet syndrome ...
Sample pages 2 PDF
Sample pages 2 PDF

... organisms. The tacit supposition of the universal tree is that all living things are related genetically, however distant. Key support for this assumption comes from the subject of this book, the genetic code, which is ubiquitous with remarkably little variation. Furthermore, the basic processes of ...
West Nile Neuroinvasive Disease Case Definitions Reproduced
West Nile Neuroinvasive Disease Case Definitions Reproduced

... A) occurs in a gene for which >20% of subjects harbored potential loss of function mutations and the transcript is annotated as coding by CCDS or both RefSeq and Ensembl B) occurs in an immune gene for which 10-20% of subjects harbored potential loss of function mutations and the transcript is annot ...
Brooker Chapter 4
Brooker Chapter 4

... A lethal allele is one that has the potential to cause the death of an organism ...
The ARG9 Gene Encodes the Plastid-Resident N
The ARG9 Gene Encodes the Plastid-Resident N

... bulk segregation of the progeny. As expected, all 40 spores examined in the progeny were arginine prototrophs because they inherited the arg9c cassette from the mt⫹ parent. An Arg⫹ (mt⫺ arg9-2 arg9c) spore from this progeny was selected, and diagnostic PCR confirmed the presence of the arg9c cassett ...
183 Mendelian Monohybrid Ratios.p65
183 Mendelian Monohybrid Ratios.p65

... Multiple alleles and Co-Dominance Each individual only receives one allele from each parent and clearly only possesses two alleles for each gene (hence diploid). If the gene has more than two alleles then clearly no individual can have them all in their genotype. The gene is said to have Multiple Al ...
Comparative analysis of peanut NBS‐LRR gene clusters suggests
Comparative analysis of peanut NBS‐LRR gene clusters suggests

... since the WD40 repeat and TIR-NBS-LRR genes are near the respective termini of the peanut BAC with the intervening region rich in retroelements. Sequence analysis indicated that the WD40 gene is highly conserved among different plant species and shares 90% protein sequence similarity with the soybea ...
Smiley Face Genetics
Smiley Face Genetics

... Genetics with a Smile Purpose: To distinguish between dominant and recessive traits ...
Natural variation in Arabidopsis, a tool to identify genetic bases of
Natural variation in Arabidopsis, a tool to identify genetic bases of

... Plants have different nutrient requirements: some species are very exigent, others are less demanding. ...
extensions
extensions

... Wild-type Alleles • Wild-type allele – the most prevalent version of a gene in wild populations (ie, the “normal” version of a gene) – Wild-type proteins function normally – They promote the reproductive success of the organism • In large populations, there may be more than one common allele that c ...
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Gene nomenclature

Gene nomenclature is the scientific naming of genes, the units of heredity in living organisms. An international committee published recommendations for genetic symbols and nomenclature in 1957. The need to develop formal guidelines for human gene names and symbols was recognized in the 1960s and full guidelines were issued in 1979 (Edinburgh Human Genome Meeting). Several other species-specific research communities (e.g., Drosophila, mouse) have adopted nomenclature standards, as well, and have published them on the relevant model organism websites and in scientific journals, including the Trends in Genetics Genetic Nomenclature Guide. Scientists familiar with a particular gene family may work together to revise the nomenclature for the entire set of genes when new information becomes available. For many genes and their corresponding proteins, an assortment of alternate names is in use across the scientific literature and public biological databases, posing a challenge to effective organization and exchange of biological information. Standardization of nomenclature thus tries to achieve the benefits of vocabulary control and bibliographic control, although adherence is voluntary. The advent of the information age has brought gene ontology, which in some ways is a next step of gene nomenclature, because it aims to unify the representation of gene and gene product attributes across all species.Gene nomenclature and protein nomenclature are not separate endeavors; they are aspects of the same whole. Any name or symbol used for a protein can potentially also be used for the gene that encodes it, and vice versa. But owing to the nature of how science has developed (with knowledge being uncovered bit by bit over decades), proteins and their corresponding genes have not always been discovered simultaneously (and not always physiologically understood when discovered), which is the largest reason why protein and gene names do not always match, or why scientists tend to favor one symbol or name for the protein and another for the gene. Another reason is that many of the mechanisms of life are the same or very similar across species, genera, orders, and phyla, so that a given protein may be produced in many kinds of organisms; and thus scientists naturally often use the same symbol and name for a given protein in one species (for example, mice) as in another species (for example, humans). Regarding the first duality (same symbol and name for gene or protein), the context usually makes the sense clear to scientific readers, and the nomenclatural systems also provide for some specificity by using italic for a symbol when the gene is meant and plain (roman) for when the protein is meant. Regarding the second duality (a given protein is endogenous in many kinds of organisms), the nomenclatural systems also provide for at least human-versus-nonhuman specificity by using different capitalization, although scientists often ignore this distinction, given that it is often biologically irrelevant.Also owing to the nature of how scientific knowledge has unfolded, proteins and their corresponding genes often have several names and symbols that are synonymous. Some of the earlier ones may be deprecated in favor of newer ones, although such deprecation is voluntary. Some older names and symbols live on simply because they have been widely used in the scientific literature (including before the newer ones were coined) and are well established among users.
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