
Deletion Upstream of the Human a Globin
... R.A. demonstrated that there was a 62-kb deletion from upstream of the a globin complex on one chromosome (see reference 9 and Fig 1). To determine whether the 62-kb deletion is linked to the a-thalassemia determinant, we examined two offspring (R0.A. and D.A.) of the propositus. Both have the pheno ...
... R.A. demonstrated that there was a 62-kb deletion from upstream of the a globin complex on one chromosome (see reference 9 and Fig 1). To determine whether the 62-kb deletion is linked to the a-thalassemia determinant, we examined two offspring (R0.A. and D.A.) of the propositus. Both have the pheno ...
LOTUS-DB: an integrative and interactive database for
... After searching, a new webpage will jump out and display all the matched results (Figure 3). Details of each matched result could be viewed by clicking on it. On the top of the matched gene list, different options of operation are provided (Figure 3). The users could conduct the operation to retriev ...
... After searching, a new webpage will jump out and display all the matched results (Figure 3). Details of each matched result could be viewed by clicking on it. On the top of the matched gene list, different options of operation are provided (Figure 3). The users could conduct the operation to retriev ...
Wide-spread polyploidizations during plant evolution Dicot
... Figure 2. Cart oon showing t he rearrangem ent s ind icat ed b y lowercase let t ers in Figure 1. Monocolored chromosomes belong to the WGD Ancestor. Chromosomes in gray boxes are extant L. kluyveri chromosomes. Events encircled by a color correspond to events on branches of the same color in Figure ...
... Figure 2. Cart oon showing t he rearrangem ent s ind icat ed b y lowercase let t ers in Figure 1. Monocolored chromosomes belong to the WGD Ancestor. Chromosomes in gray boxes are extant L. kluyveri chromosomes. Events encircled by a color correspond to events on branches of the same color in Figure ...
High-resolution mapping of the leaf rust disease resistance gene Lr1
... Polymorphic DNA markers for genetic mapping of the Lr1 gene The generation of a saturated genetic map around the target gene is the first step of map-based cloning. Two segregating F2 populations, ThatcherLr1 × Thatcher and ThatcherLr1 × Frisal, were constructed and used for fine mapping of the Lr1 ...
... Polymorphic DNA markers for genetic mapping of the Lr1 gene The generation of a saturated genetic map around the target gene is the first step of map-based cloning. Two segregating F2 populations, ThatcherLr1 × Thatcher and ThatcherLr1 × Frisal, were constructed and used for fine mapping of the Lr1 ...
Inheritance of Color And The Polled Trait
... the polled trait depends on just one gene, expressed by the symbol “P”. The opposite condition, the presence of horns, is expressed as the “p” gene. The polled gene (P) is dominant to the horned gene (p). So when an animal inherits the dominant P gene from one parent and the recessive p gene from th ...
... the polled trait depends on just one gene, expressed by the symbol “P”. The opposite condition, the presence of horns, is expressed as the “p” gene. The polled gene (P) is dominant to the horned gene (p). So when an animal inherits the dominant P gene from one parent and the recessive p gene from th ...
molecular genetics of coat colour in pigs
... about 100-kb downstream the gene, which in turn contains another duplication of 4.3-kb) have been identified in Hampshire and might be involved in determining the belted phenotype in this breed (Rubin et al., 2012). Another allele with a single copy of the KIT gene without the splice mutation and, p ...
... about 100-kb downstream the gene, which in turn contains another duplication of 4.3-kb) have been identified in Hampshire and might be involved in determining the belted phenotype in this breed (Rubin et al., 2012). Another allele with a single copy of the KIT gene without the splice mutation and, p ...
Module 2 In vivo gene therapy Lecture 7 In-situ, in-vivo and
... recombinase is a site-specific integrase isolated from bacteriophage P1. It catalyzes the recombination of DNA between specific loxP sites in DNA. Generally, this system is created after generating two strains, one expressing Cre recombinase and the other having loxP site flanked with the gene of in ...
... recombinase is a site-specific integrase isolated from bacteriophage P1. It catalyzes the recombination of DNA between specific loxP sites in DNA. Generally, this system is created after generating two strains, one expressing Cre recombinase and the other having loxP site flanked with the gene of in ...
Independent evolution of overlapping polymerase and surface
... was primarily caused by substitutions of the p1/s3 nucleotides. Some additional variation was imposed on both proteins by rare p2/s1 mutations. In some instances, p1/s3 nucleotide variation did not cause amino acid changes in the polymerase (Fig. 3a). This was due to partial degeneration of the firs ...
... was primarily caused by substitutions of the p1/s3 nucleotides. Some additional variation was imposed on both proteins by rare p2/s1 mutations. In some instances, p1/s3 nucleotide variation did not cause amino acid changes in the polymerase (Fig. 3a). This was due to partial degeneration of the firs ...
Physical Mapping of Important Trait Loci in the Pig
... the genetic background of inherited diseases. An important goal is also to develop new and more specific pharmaceuticals with less side effects. The drug industry can utilize the genome information in order to find candidate drug targets. It will also be possible to create individual treatments, sin ...
... the genetic background of inherited diseases. An important goal is also to develop new and more specific pharmaceuticals with less side effects. The drug industry can utilize the genome information in order to find candidate drug targets. It will also be possible to create individual treatments, sin ...
Touring Ensembl: A practical guide to genome browsing Open Access
... Case Study 2: Function for a Gene In case 1, we investigated a gene for which there is information already known about promoter and enhancer elements. Although most human genes in Ensembl are labelled as 'known', signifying a good match to a cDNA or protein in a biological database such as UniProt o ...
... Case Study 2: Function for a Gene In case 1, we investigated a gene for which there is information already known about promoter and enhancer elements. Although most human genes in Ensembl are labelled as 'known', signifying a good match to a cDNA or protein in a biological database such as UniProt o ...
Comprehension Questions
... Conversely, a negative interference value, where more double crossovers occur than expected, suggests that a crossover event can stimulate additional crossover events in the same region of the chromosome. 11. List some of the methods for physically mapping genes and explain how they are used to posi ...
... Conversely, a negative interference value, where more double crossovers occur than expected, suggests that a crossover event can stimulate additional crossover events in the same region of the chromosome. 11. List some of the methods for physically mapping genes and explain how they are used to posi ...
2610//16 1 Allele-specific expression, ASE [1] Defini8on of allele
... • Homozygous variant: the two alleles are idenBcal to each other • Heterozygous variant: the two alleles are different • “Ref.” = the allele is the same as for the reference genome • “Alt.” = alternate = the allele is different from the reference genome • SNV is one type of variant, others i ...
... • Homozygous variant: the two alleles are idenBcal to each other • Heterozygous variant: the two alleles are different • “Ref.” = the allele is the same as for the reference genome • “Alt.” = alternate = the allele is different from the reference genome • SNV is one type of variant, others i ...
An homologous pair of chromosomes…
... Crossing-over is more likely to occur between genes which are further apart. In this example, there will be more recombination between D and E than between C and D. During prophase, the nuclear membrane also breaks down and the centrioles migrate to the poles of the cell. ...
... Crossing-over is more likely to occur between genes which are further apart. In this example, there will be more recombination between D and E than between C and D. During prophase, the nuclear membrane also breaks down and the centrioles migrate to the poles of the cell. ...
Gene Flow - nslc.wustl.edu
... heterozygosity within villages fst = 0.073 (between villages) fit = fst+fis(1–fst) = 0.073-0.01(0.927) = 0.064 Even though the Yanomama avoid inbreeding within villages (fis = -0.01 < 0), the Wahlund effect creates an overall heterozygosity deficiency (fit = 0.064 > 0) at the tribal level. ...
... heterozygosity within villages fst = 0.073 (between villages) fit = fst+fis(1–fst) = 0.073-0.01(0.927) = 0.064 Even though the Yanomama avoid inbreeding within villages (fis = -0.01 < 0), the Wahlund effect creates an overall heterozygosity deficiency (fit = 0.064 > 0) at the tribal level. ...
imbalances within regions containing large
... <400 bp to 40 kb. This region contains an autosomal dominant deafness gene, DFN24. The possibility of further molecular studies to determine if mutations/deletions of DFN24 are present in the proband are being considered (Figure 5). * The duplications or deletions at 1p36.33 (RP11-703E10) and 22q13. ...
... <400 bp to 40 kb. This region contains an autosomal dominant deafness gene, DFN24. The possibility of further molecular studies to determine if mutations/deletions of DFN24 are present in the proband are being considered (Figure 5). * The duplications or deletions at 1p36.33 (RP11-703E10) and 22q13. ...
High-throughput genotyping
... • May cause or predispose to inheritable diseases • Determines e.g. individual drug response • Used as markers to identify disease genes Finnish Genome Center ...
... • May cause or predispose to inheritable diseases • Determines e.g. individual drug response • Used as markers to identify disease genes Finnish Genome Center ...
From essential to persistent genes: a functional
... determining which genes were essential for the survival of a pathogen. These studies were carried out on libraries of microorganisms using transposons or antisense RNA expression [4], but the ‘minimal set’ outcomes differed widely in terms of gene number (and often identity), not only in distant org ...
... determining which genes were essential for the survival of a pathogen. These studies were carried out on libraries of microorganisms using transposons or antisense RNA expression [4], but the ‘minimal set’ outcomes differed widely in terms of gene number (and often identity), not only in distant org ...
IGR-ANNOT: A Multiagent System for InterGenic - Inf
... Introduction • There are many tools and techniques to compare complete genomes and coding regions, but there is a lack for techniques for compare non-coding regions of DNA, which contains regulatory elements. • Many of the differences between species may be attributed to changes in the regulation o ...
... Introduction • There are many tools and techniques to compare complete genomes and coding regions, but there is a lack for techniques for compare non-coding regions of DNA, which contains regulatory elements. • Many of the differences between species may be attributed to changes in the regulation o ...
No Slide Title - University of Michigan
... Dental Branch) Reasoned that therapy is likely to be more effective focused on targets expressed only in cancer cells Targeted human papillomaviruses, present in many oral neoplasms ...
... Dental Branch) Reasoned that therapy is likely to be more effective focused on targets expressed only in cancer cells Targeted human papillomaviruses, present in many oral neoplasms ...
GENERATION OF BANK POST-TRANSCRIPTIONAL FUSIONS OF
... derived from Tn5 compound. Each of these elements lack the gene coding for a transposase gene and include, which confers resistance to an antibiotic, flanked by a sequence of 19 bp from the ends of the I and O Tn5. In our case we used the mini-Tn5 Sm containing the gene that gives resistance to Sm. ...
... derived from Tn5 compound. Each of these elements lack the gene coding for a transposase gene and include, which confers resistance to an antibiotic, flanked by a sequence of 19 bp from the ends of the I and O Tn5. In our case we used the mini-Tn5 Sm containing the gene that gives resistance to Sm. ...
Fine mapping of Restorer-of-fertility in pepper (Capsicum
... genes have shown that each of their 35 amino acid arrays determines the specificity of the protein to one nucleotide of target RNA. Furthermore, a combination of the first and sixth amino acids in the motif is crucial for determining specificity, implying that these amino acids interact directly wit ...
... genes have shown that each of their 35 amino acid arrays determines the specificity of the protein to one nucleotide of target RNA. Furthermore, a combination of the first and sixth amino acids in the motif is crucial for determining specificity, implying that these amino acids interact directly wit ...
Wings, Horns, and Butterfly Eyespots: How Do Complex Traits Evolve?
... expressed in a similar temporal fashion in more than one developmental context and/or having the same function (being upstream activators of X, downstream repressors of Y, etc.), it is natural to question whether there was a network co-option event, or whether the genes were re-wired de novo to each ...
... expressed in a similar temporal fashion in more than one developmental context and/or having the same function (being upstream activators of X, downstream repressors of Y, etc.), it is natural to question whether there was a network co-option event, or whether the genes were re-wired de novo to each ...
Copy-number variation

Copy-number variations (CNVs)—a form of structural variation—are alterations of the DNA of a genome that results in the cell having an abnormal or, for certain genes, a normal variation in the number of copies of one or more sections of the DNA. CNVs correspond to relatively large regions of the genome that have been deleted (fewer than the normal number) or duplicated (more than the normal number) on certain chromosomes. For example, the chromosome that normally has sections in order as A-B-C-D might instead have sections A-B-C-C-D (a duplication of ""C"") or A-B-D (a deletion of ""C"").This variation accounts for roughly 13% of human genomic DNA and each variation may range from about one kilobase (1,000 nucleotide bases) to several megabases in size. CNVs contrast with single-nucleotide polymorphisms (SNPs), which affect only one single nucleotide base.