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the human y chromosome, in the light of evolution
the human y chromosome, in the light of evolution

... that tissue specificity reflects functionality, the human Y thus harbours remarkably low gene-functional diversity. In fact, if classified jointly by location and apparent function, known human Y genes boil down to pseudoautosomal loci and three basic classes of non-recombining, male-specific loci. ...
Core
Core

... • Translations define the Untranslated Region (UTR) and Coding Sequence (CDS) composition of Transcripts • Protein sequences are not stored in the database, but computed on the fly using Transcript(!) objects ...
Enlis Genome Research - Release Notes
Enlis Genome Research - Release Notes

... - Main Application: Added Homozygous Regions Detector tool. Find regions of the genome with "runs" of consecutive homozygous variants. For rare disease analysis, these regions may indicate a consanguineous union, and provide a starting point for finding recessive disease. In tumor samples, these reg ...
Alternative Splicing A very short introduction (in plants)
Alternative Splicing A very short introduction (in plants)

... One Gene / One Polypeptide ...
Entry PTX4 Evolution of the Pentraxin Family
Entry PTX4 Evolution of the Pentraxin Family

... that regulate innate resistance to microbes and the scavenging of cellular debris, conserved from mammals to arthropods (1). In Limulus polyphemus, different forms of CRPs and SAP are normal and abundant constituents of the hemolymph and are involved in recognizing and destroying pathogens (3–5). PT ...
Slides
Slides

... Copy Number Variation by Prof. Stephen Scherer CNVs in human genomes by Prof. Chris Ponting The Future of CNVs: Sequence base resolution and links to human disea Professor Evan Eichler – University of Washington • You will need the Stanford name and password (stanford, member) in order to watch this ...
"Dual-coding Regions in Alternatively Spliced Human Genes". In
"Dual-coding Regions in Alternatively Spliced Human Genes". In

... While a relatively large number of candidate dual-coding genes have been identified based on mRNA data, a crucial question remains: what proportion of dual-coding regions encodes functional protein products in both reading frames? Currently, this topic has been under debate (Chung et al., 2007; Tress ...
Microarray Analysis of Drosophila Development During
Microarray Analysis of Drosophila Development During

... (before the late larval ecdysone pulse) but then fall to low or undetectable levels during this pulse. This category is colored red in the first column. They are potentially repressed by ecdysone The second category consists of genes expressed at low or undetectable levels before the late larval ecd ...
Repeat-induced point mutation and the population
Repeat-induced point mutation and the population

... rather suggest an effect of gene conversion, which is also a linkage-dependent process but results in a homogenization of repeated sequences. Particular sequences were found more widely distributed within the genome than expected by chance and may reflect the recently active variants. Therefore, seq ...
ppt - Chair of Computational Biology
ppt - Chair of Computational Biology

... A much more expanded view of epigenetics has recently emerged ...
Chromosomes and Inheritance - 1 Chromosome Theory of
Chromosomes and Inheritance - 1 Chromosome Theory of

... Chromosome mapping using recombination data was used extensively in the earlier part of the 20th century. Today we have much more sophisticated methods of dealing with chromosome mapping using DNA probes, where a known DNA fragment is used to compare with an unknown chromosome region. If the probe m ...
The Florida State University College of Arts and Sciences
The Florida State University College of Arts and Sciences

... silencing can be induced by double stranded RNAs (dsRNA) with sequences that are homologous to the promoter region (Mette et al. 2000). The pathway responsible for this epigenetic transcriptional gene silencing is known as the RNA-dependent DNA methylation pathway or RdDM. RdDM relies on the coordin ...
Population genomics of human gene expression
Population genomics of human gene expression

... We estimated the median and variance of each of the 47,294 To maximize the power to detect genetic effects, it is important to probe types for each population, and analyzed the distribution of establish that expression measurements are robust to experimental variance and median values of normalized ...
Ensembl Introduction
Ensembl Introduction

... The Ensembl gene set • All Ensembl genes start from a known protein or mRNA ...
Human Apolipoprotein A-l-C-lll Gene Complex is Located on
Human Apolipoprotein A-l-C-lll Gene Complex is Located on

... proposed that the apolipoproteins were all derived from a common evolutionary precursor. The common function, structure, and perhaps even evolutionary background of the apolipoproteins suggests that their genes comprise a multigene family. Families of related DNA sequences have been described for th ...
Gene expression regulation and the lactase gene
Gene expression regulation and the lactase gene

... The human genome • Over 40% of the predicted human proteins share similarity with fruit-fly or worm proteins • particular gene sequences are associated with numerous disorders (breast cancer, muscle disease, deafness, blindness…) • ~ 3 million locations where single-base DNA differences occur in hum ...
Annotation Practice Activity [Based on materials from the GEP
Annotation Practice Activity [Based on materials from the GEP

... K. The last base in exon 1 is a G at position 52423 (see arrow). In the middle row of amino acids (frame 2) notice that the codon for E includes this G as the third NT of the codon E. Since the end of the exon includes a full codon, the end of exon 1 is in phase 0. The phase is the number of bases ...
Supplementary Figures
Supplementary Figures

... lincRNAs and protein coding genes (Supplementary Figure 4). We compared and contrasted the TE composition of protein coding and lincRNA promoters. The upstream promoter regions of protein coding genes are known to harbor TEs, which in some cases shape transcriptional regulation[2-4]. We confirmed th ...
Mutations in a member of the ADAMTS gene family cause
Mutations in a member of the ADAMTS gene family cause

... evidence for alternative splicing of exon 17 (GenBank accession number AF414400), resulting in a frameshift that predicts a truncated 842-amino-acid form of the protein lacking the six C-terminal TSP1 repeats. Comparative analysis with draft mouse genomic sequences demonstrates a high degree of cons ...
a real-time quantitative polymerase chain reaction protocol for symb
a real-time quantitative polymerase chain reaction protocol for symb

... isolation using a high-salt precipitation step involving the addition of 250 μL of a salt solution (0.8 m Na citrate, 1.2 m NaCl) before the addition of 250 μL of isopropanol. The RNA was eluted in 30 μL DEPC-treated water. After the aqueous phase was removed from each sample and processed for RNA ( ...
Finding Eukaryotic Open reading frames.
Finding Eukaryotic Open reading frames.

... Note in this ATG is shown in a red box (note it is 12 nucleotides into the first exon) {this will not impact on ORF but will mean an incorrect gene annotation: why) Only the first exon and intron is shown full; the rest shows partial sequences of introns are shown. The fully sequences can be found i ...
1. Chromatin structure is based on successive levels of DNA packing
1. Chromatin structure is based on successive levels of DNA packing

... • Problems with gene expression and control can lead to imbalance and diseases, including cancers. • Our understanding of the mechanisms controlling gene expression in eukaryotes has been enhanced by new research methods and technology. • Controls of gene activity in eukaryotes involves some of the ...
Document
Document

...  > 153 million bp (5% of DNA in women's cells, 2.5% in men's)  gene-poor region (repeated segments of DNA)  2000 genes - genes are very short, 10% of genes are "CT" genes*  mutations in genes of X chromosome = X-linked genetic disorders (hemophilia A and B, color blindness) ...
Chromosome Locations of the MYB Related Genes, AMYB and
Chromosome Locations of the MYB Related Genes, AMYB and

... The MYB protooncogene is an evolutionarily conserved cel lular gene first identified by its homology to the transforming gene, \-myb, of avian myeloblastosis and erythroblastosis vi ruses (for review, see Ref. l ). The protein encoded by the MYB gene is a nuclear protein (2) reportedly expressed pre ...
Chapter 20
Chapter 20

... • Concept 20.1: DNA cloning permits production of multiple copies of a specific gene or other DNA segment • To work directly with specific genes – Scientists have developed methods for preparing well-defined, gene-sized pieces of DNA in multiple identical copies, a process called gene cloning ...
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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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