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Microarray-based comparative genomic hybridisation (array CGH)
Microarray-based comparative genomic hybridisation (array CGH)

... The main advantage of array CGH is the ability to explore all 46 chromosomes in a single test and to detect any DNA imbalance including extra or missing chromosomes and loss or gain of chromosome material much more precisely than conventional chromosome analyses. Therefore, many more children will g ...
final1-eu-marie-curie-final-report
final1-eu-marie-curie-final-report

... condensing Val and Methyl malonyl CoA. This PKS module should have KR/DH/ER domain to take the initial tethered beta keto extended Val-Me-mal scaffold to the fully saturated one here. This is precedent in statine assembly. The gamma amino group that results is the key ...
Sequencing
Sequencing

... EMBL Release 65 ...
Analysis of the histone H3 gene family in Arabidopsis and
Analysis of the histone H3 gene family in Arabidopsis and

... (Figure 3). Spatial expression of At1g19890 was analysed by in situ hybridisation to evaluate whether this gene encodes the male-gamete-specific histone H3 of Arabidopsis. In situ hybridisation could not detect transcripts of At1g19890 in uninucleate microspores or in early bicellular pollen, but cl ...
Efficient Screening of CRISPR/Cas9
Efficient Screening of CRISPR/Cas9

... improve the screening process in Drosophila to help identify broods that were more likely to contain CRISPR-induced events. Several studies have shown that multiple CRISPR events can occur in a single cell (Cong et al. 2013; Wang et al. 2013), enabling the development of a co-CRISPR or coconversion ...
Smchd1 regulates a subset of autosomal genes subject to
Smchd1 regulates a subset of autosomal genes subject to

... [9-11], and (d) the apparently random widespread monoallelic expression of possibly hundreds of individual genes spread throughout the genome [12,13]. While the molecular mechanisms underlying the different forms of monoallelic expression have unique characteristics, they may be expected to share co ...
early RNs, crossing over initiates, then synapsis begins Chiasmata
early RNs, crossing over initiates, then synapsis begins Chiasmata

... •Ac transposable element is autonomous: it encodes the gene for the transposase enzyme that allows it to jump. Some maize lines have active Ac. •Ds element is non -autonomous: it is a derivative of Ac but its transposase gene does not function. However, when Ac is present in same genome, Ds can jump ...
Manipulating Yeast Genome Using Plasmid Vectors. In: Gene Expression Technology.
Manipulating Yeast Genome Using Plasmid Vectors. In: Gene Expression Technology.

... Yeast vectors are of four general types. These differ in the manner in which they are maintained in yeast cells. YIp (yeast integrating plasmid) vectors lack a yeast replication origin, so must be propagated as integrated elements in a yeast chromosome, usually in a single copy per genome. YRp (yeas ...
Phenotypic effects and variations in the genetic material (part 1)
Phenotypic effects and variations in the genetic material (part 1)

... A. Variation in chromosome number The variation in the number of sets of chromosomes (ploidy) is common in nature. Changes in chromosome number can occur by the addition or loss of all or part of a chromosome (aneuploidy), the loss of an entire set of chromosomes (monoploidy) or the gain of one or m ...
Genomics Reveal Ancient Forms of Stanniocalcin in Amphioxus and
Genomics Reveal Ancient Forms of Stanniocalcin in Amphioxus and

... E-mail: [email protected] ...
A SNP in the ABCC11 gene is the determinant of human earwax type
A SNP in the ABCC11 gene is the determinant of human earwax type

... individuals with dry earwax were AA homozygotes, and all 38 individuals with the wet type were either GA heterozygotes or GG homozygotes at each of the three SNP loci (Table 1 and Supplementary Table 1 online). Among the SNPs, only rs17822931 is nonsynonymous (G180R); rs6500380 does not create any s ...
Evolution of Mammalian KELL Blood Group Glycoproteins and
Evolution of Mammalian KELL Blood Group Glycoproteins and

... disease of the fetus and newborn [5,7]. Recent studies have suggested that these reactions may occur not only as a result of immune RBC destruction, but also by the suppression of erythropoiesis by antiKELL-K1 antibodies, which can lead to severe anemia in the fetus or new born [35,36]. This paper r ...
Characteristics, causes and evolutionary consequences of male
Characteristics, causes and evolutionary consequences of male

... genomes. It might also be argued that focusing on the same sequence inserted at many different locations in the genome reduces the confounding effects of mutation rate heterogeneity related to inherent features of the sequence context, like nucleotide composition. However, interspersed elements tend ...
FEBS Letters
FEBS Letters

... from hoxU by some 160 bp, part of an O R F is located on the opposite strand, possibly encoding a NifS-like protein. In the case of A. variabilis, two open reading frames are located within the gene cluster (ORF3 between h o x Y and hoxH and O R F 8 between hoxU and hoxY," see Fig. 1 and [7]). O R F ...
About OMICS Group
About OMICS Group

... Seventy percent, even all of the flowering plants are polyploid. Polyploidy has played an important role in promoting plant evolution through genomic merging and doubling ...
A strategy for extracting and analyzing large
A strategy for extracting and analyzing large

... mutation must be considered when evaluating the phenotype of the double mutant. Indeed, a double mutant could have a more severe phenotype than either single mutant and still represent a synthetic, neutral, or alleviating interaction. Typically, large-scale studies have scored gene-gene interactions ...
Slide 1
Slide 1

... Experimental approach ...
Lyons/Hewitt/Suchocki/Yeh, CONCEPTUAL INTEGRATED SCIENCE
Lyons/Hewitt/Suchocki/Yeh, CONCEPTUAL INTEGRATED SCIENCE

... Copyright © 2007 Pearson Education, Inc., publishing as Pearson Addison-Wesley ...
Structural changes following the reversal of a Y chromosome to an
Structural changes following the reversal of a Y chromosome to an

... peer-reviewed) is the author/funder. It is made available under a CC-BY-NC-ND 4.0 International license. ...
POCUS: mining genomic sequence annotation to predict disease
POCUS: mining genomic sequence annotation to predict disease

... produce artificial locus sets containing the disease genes and many flanking genes, and each set was analyzed using POCUS to find genes possessing IDs over-represented among two or more loci. The three locus sizes tested were 100, 500 and 1,000 IDs, and these corresponded to 20, 94 and 187 genes per ...
Package `rDNA`
Package `rDNA`

... Specify a list of persons to be included in the statistics. For example, c("person 1", "person 2"). Note that the names must appear exactly as they are used on the dataset. Alternatively, the string value all will include all persons in the .dna file. include.organizations Specify a list of organiza ...
Homo sapiens - Carol Lee Lab
Homo sapiens - Carol Lee Lab

... OXFORD, ENGLAND—A new report in the Journal Of The Anthropological Society Of Oxford reveals that human feet were likely once used as a means of extravehicular locomotion. "Apparently, as recently as 20 years ago, the foot was used in a process called 'walking,' by which the human body actually prop ...
Highly precise and developmentally programmed genome
Highly precise and developmentally programmed genome

... Xrcc4p-dependent repair. We propose that the remarkable precision in end joining is largely driven by the characteristic structure of the broken ends generated during IES excision. ...
Localization of distal regulatory domains in the
Localization of distal regulatory domains in the

... We found that the human genes are 5.3 kb apart. The murine equivalents are also closely linked with both genes oriented in the same 5⬘33⬘ orientation, but with only 3.2 kb in the mice intergenic region. A dot-matrix comparison of the available human and determined mouse sequences shows that homology ...
A disproportionate role for mtDNA in DobzhanskyMuller
A disproportionate role for mtDNA in DobzhanskyMuller

... © 2012 Blackwell Publishing Ltd ...
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Human genome



The human genome is the complete set of nucleic acid sequence for humans (Homo sapiens), encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA. Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content. While there are significant differences among the genomes of human individuals (on the order of 0.1%), these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4%) and bonobos. Humans share 50% of their DNA with bananas.The Human Genome Project produced the first complete sequences of individual human genomes, with the first draft sequence and initial analysis being published on February 12, 2001. The human genome was the first of all vertebrates to be completely sequenced. As of 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. The resulting data are used worldwide in biomedical science, anthropology, forensics and other branches of science. There is a widely held expectation that genomic studies will lead to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.Although the sequence of the human genome has been (almost) completely determined by DNA sequencing, it is not yet fully understood. Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression, organization of chromosome architecture, and signals controlling epigenetic inheritance.There are an estimated 20,000-25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further. Protein-coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA molecules, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been elucidated.
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