scholarly journals What's So Special about the Human Genome?

1998 ◽  
Vol 7 (4) ◽  
pp. 422-424 ◽  
Author(s):  
ARTHUR L. CAPLAN
Keyword(s):  
Public Policy ◽  
Human Genome ◽  
Gene Sequences ◽  
Human Genes

Glenn McGee argues that the time is now for debating the morality of patenting human genes. In one sense he is surely right. While thousands of patents have been issued or are pending on many gene sequences, public policy with respect to ownership of the human genome is still far from settled. So a debate about the ethics of patenting genes is, if nothing else, timely. In another sense however, Professor McGee is wrong.

scholarly journals Tracking human genes along the translational continuum

2019 ◽  
Vol 4 (1) ◽  
Author(s):  
Kyubum Lee ◽  
Mindy Clyne ◽  
Wei Yu ◽  
Zhiyong Lu ◽  
Muin J. Khoury
Keyword(s):  
Public Health ◽  
Human Genome ◽  
Health Knowledge ◽  
Genetic Diseases ◽  
Public Health Practice ◽  
Genetic Research ◽  
Basic Research ◽  
Epidemiologic Studies ◽  
Online Databases ◽  
Human Genes

Abstract Understanding the drivers of research on human genes is a critical component to success of translation efforts of genomics into medicine and public health. Using publicly available curated online databases we sought to identify specific genes that are featured in translational genetic research in comparison to all genomics research publications. Articles in the CDC’s Public Health Genomics and Precision Health Knowledge Base were stratified into studies that have moved beyond basic research to population and clinical epidemiologic studies (T1: clinical and population human genome epidemiology research), and studies that evaluate, implement, and assess impact of genes in clinical and public health areas (T2+: beyond bench to bedside). We examined gene counts and numbers of publications within these phases of translation in comparison to all genes from Medline. We are able to highlight those genes that are moving from basic research to clinical and public health translational research, namely in cancer and a few genetic diseases with high penetrance and clinical actionability. Identifying human genes of translational value is an important step towards determining an evidence-based trajectory of the human genome in clinical and public health practice over time.

scholarly journals Endogenous Retroviruses and Human Evolution

2002 ◽  
Vol 3 (6) ◽  
pp. 494-498 ◽  
Author(s):  
Konstantin Khodosevich ◽  
Yuri Lebedev ◽  
Eugene Sverdlov
Keyword(s):  
Human Genome ◽  
Human Evolution ◽  
Endogenous Retroviruses ◽  
Regulatory Sequences ◽  
Coding Regions ◽  
Regulatory Systems ◽  
Human Genes ◽  
Functional Consequences ◽  
Polyadenylation Signals ◽  
Human Specific

Humans share about 99% of their genomic DNA with chimpanzees and bonobos; thus, the differences between these species are unlikely to be in gene content but could be caused by inherited changes in regulatory systems. Endogenous retroviruses (ERVs) comprise ∼ 5% of the human genome. The LTRs of ERVs contain many regulatory sequences, such as promoters, enhancers, polyadenylation signals and factor-binding sites. Thus, they can influence the expression of nearby human genes. All known human-specific LTRs belong to the HERV-K (human ERV) family, the most active family in the human genome. It is likely that some of these ERVs could have integrated into regulatory regions of the human genome, and therefore could have had an impact on the expression of adjacent genes, which have consequently contributed to human evolution. This review discusses possible functional consequences of ERV integration in active coding regions.

SELF-ORGANIZING MAP-BASED DISCOVERY AND VISUALIZATION OF HUMAN ENDOGENOUS RETROVIRAL SEQUENCE GROUPS

2005 ◽  
Vol 15 (03) ◽  
pp. 163-179 ◽  
Author(s):  
MERJA OJA ◽  
GÖRAN O. SPERBER ◽  
JONAS BLOMBERG ◽  
SAMUEL KASKI
Keyword(s):  
Human Genome ◽  
Common Origin ◽  
Self Organizing Map ◽  
Visualization Method ◽  
Bootstrap Procedure ◽  
Human Genes ◽  
Vectorial Data ◽  
Self Organizing

About 8 per cent of the human genome consists of human endogenous retroviral sequences (HERVs), which are remains from ancient infections. The HERVs may give rise to transcripts or affect the expression of human genes. The first step in understanding HERV function is to classify HERVs into families. In this work we study the relationships of existing HERV families and detect potentially new HERV families. A Median Self-Organizing Map (SOM), a SOM for non-vectorial data, is used to group and visualize a collection of 3661 HERVs. The SOM-based analysis is complemented with estimates of the reliability of the results. A novel trustworthiness visualization method is used to estimate which parts of the SOM visualization are reliable and which not. The reliability of extracted interesting HERV groups is verified by a bootstrap procedure suitable for SOM visualization-based analysis. The SOM detects a group of epsilonretroviral sequences and a group of ERV9, HERVW, and HUERSP3 sequences which suggests that ERV9 and HERVW sequences may have a common origin.

scholarly journals BIOINFORMATICS APPROACHES TO UNDERSTAND GENE LOOPING IN THE HUMAN GENOME

2021 ◽  
pp. 170-173
Author(s):  
Sudheer Menon
Keyword(s):  
Rna Polymerase Ii ◽  
Human Genome ◽  
Dna Sequences ◽  
Human Genome Project ◽  
Genome Project ◽  
Department Of Energy ◽  
Biological Study ◽  
Human Genes ◽  
Protein Functions ◽  
The Human Genome Project

This paper reviews up to date Bioinformatics Approaches to Understand Gene Looping in the Human Genome. Bioinformatics is used to study the sequences of biological molecules. It generally points out to genes, DNA, RNA, or protein, and is especially functional in analogizing genes and other protein sequences. You can believe in bioinformatics. Basically, the linguistics Bioinformatics uses computer programs for various applications, involving deliberate gene and protein functions. The beginning of the human genome project in 1990 and was completed in 2003. The Human Genome Project gave a prime improvement for the progress of bioinformatics. The (HGP) was organized by the National Institutes of Health and the U.S. Department of Energy. Without the interpretation given via bioinformatics, the information obtained from the HGP is not very functional. This page describes HGP bioinformatics research. Informatics is the formation, exploration, and function of databases. Main aim was to find the total set of human genes and make them available for more biological study and discover the total sequence of DNA bases in the human genome. A total and the correct sequence of the 3 billion DNA base pairs create the human genome and search all approximate 20,000 to 25,000 human genes. The genomes sequence of organisms that are main to medical research. To begin new tools to apply and inspect the data and to assemble this information broadly obtainable. DNA sequencing manufactures a sequence that is particularly a hundred bases long. Gene sequences manufacture thousands of bases. To study genes, small intersecting sequences set up long DNA sequences. Loops can clump associated genes into separate transcriptional axis chromatin from neighboring domains. Gene loops in yeast juxtapose promoter-terminator regions. Here we outline gene loops’ finding, the looping need proteins, and transcription by RNA polymerase II is by gen looping

scholarly journals The role of genetic polymorphism in the formation of atherosclerosis in the vessels of lower extremities

2012 ◽  
Vol 93 (3) ◽  
pp. 513-516
Author(s):  
M N Katina ◽  
R F Gayfullina ◽  
V V Valiullin ◽  
A A Rizvanov ◽  
R F Khamitov ◽  
...  
Keyword(s):  
Human Genome ◽  
Literature Search ◽  
Lower Extremities ◽  
Disease Course ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Human Genes ◽  
Genomics And Proteomics ◽  
The Individual

Personalized medicine involves the use of methods of genomics and proteomics by physicians for early diagnosis, prediction of the nature of the disease course and the choice of medicines and their doses based on personalized characteristics of the individual patient. Advances in the study of the human genome make it possible to reveal the interrelation between the individual mutations in the human genes (polymorphisms) and predisposition to certain diseases. Currently there are more than 10 million single-nucleotide polymorphisms in the human genome, however their biological role remains poorly understood. On the basis of a literature search of electronic full-text and abstract-only versions of articles, which was conducted in the PUBMED, OMIM and GENE databases, collected was the information on genetic predisposition to systemic atherosclerosis. The review is dedicated to polymorphisms of the major genes that play a role in the pathophysiology of atherosclerosis of the lower extremities.

scholarly journals How Do Patents Affect Follow-On Innovation? Evidence from the Human Genome

2019 ◽  
Vol 109 (1) ◽  
pp. 203-236 ◽  
Author(s):  
Bhaven Sampat ◽  
Heidi L. Williams
Keyword(s):  
Product Development ◽  
Human Genome ◽  
Scientific Research ◽  
Gene Patents ◽  
Human Genes ◽  
The Us ◽  
Quasi Experimental ◽  
Experimental Approaches ◽  
Patent Applications ◽  
Average Gene

We investigate whether patents on human genes have affected follow-on scientific research and product development. Using administrative data on successful and unsuccessful patent applications submitted to the US Patent and Trademark Office, we link the exact gene sequences claimed in each application with data measuring follow-on scientific research and commercial investments. Using these data, we document novel evidence of selection into patenting: patented genes appear more valuable—prior to being patented— than non-patented genes. This evidence of selection motivates two quasi-experimental approaches, both of which suggest that on average gene patents have had no quantitatively important effect on follow-on innovation. (JEL I10, O31, O34)

scholarly journals Comprehensive Characterization of the Human Endogenous Retrovirus HERV-K(HML-6) Group: Overview of Structure, Phylogeny, and Contribution to the Human Genome

2019 ◽  
Vol 93 (16) ◽  
Author(s):  
Maria Paola Pisano ◽  
Nicole Grandi ◽  
Marta Cadeddu ◽  
Jonas Blomberg ◽  
Enzo Tramontano
Keyword(s):  
Human Genome ◽  
Germ Line ◽  
Endogenous Retrovirus ◽  
Endogenous Retroviruses ◽  
Human Endogenous Retrovirus ◽  
Genomic Context ◽  
Reading Frame ◽  
Normal Tissues ◽  
Small Proteins ◽  
Human Genes

ABSTRACTEight percent of the human genome is composed of human endogenous retroviruses (HERVs), remnants of ancestral germ line infections by exogenous retroviruses, which have been vertically transmitted as Mendelian characters. The HML-6 group, a member of the class II betaretrovirus-like viruses, includes several proviral loci with an increased transcriptional activity in cancer and at least two elements that are known for retaining an intact open reading frame and for encoding small proteins such as ERVK3-1, which is expressed in various healthy tissues, and HERV-K-MEL, a small Env peptide expressed in samples of cutaneous and ocular melanoma but not in normal tissues.IMPORTANCEWe reported the distribution and genetic composition of 66 HML-6 elements. We analyzed the phylogeny of the HML-6 sequences and identified two main clusters. We provided the first description of a Rec domain within theenvsequence of 23 HML-6 elements. A Rec domain was also predicted within the ERVK3-1 transcript sequence, revealing its expression in various healthy tissues. Evidence about the context of insertion and colocalization of 19 HML-6 elements with functional human genes are also reported, including the sequence 16p11.2, whose 5′ long terminal repeat overlapped the exon of one transcript variant of a cellular zinc finger upregulated and involved in hepatocellular carcinoma. The present work provides the first complete overview of the HML-6 elements in GRCh37(hg19), describing the structure, phylogeny, and genomic context of insertion of each locus. This information allows a better understanding of the genetics of one of the most expressed HERV groups in the human genome.

scholarly journals The Human SETMAR Protein Preserves Most of the Activities of the Ancestral Hsmar1 Transposase

2006 ◽  
Vol 27 (3) ◽  
pp. 1125-1132 ◽  
Author(s):  
Danxu Liu ◽  
Julien Bischerour ◽  
Azeem Siddique ◽  
Nicolas Buisine ◽  
Yves Bigot ◽  
...  
Keyword(s):  
Dna Repair ◽  
Dna Binding ◽  
Human Genome ◽  
Specific Binding ◽  
Protein A ◽  
Protein Coding ◽  
Specific Binding Sites ◽  
Human Genes ◽  
Starting Point ◽  
The Many

ABSTRACT Transposons have contributed protein coding sequences to a unexpectedly large number of human genes. Except for the V(D)J recombinase and telomerase, all remain of unknown function. Here we investigate the activity of the human SETMAR protein, a highly expressed fusion between a histone H3 methylase and a mariner family transposase. Although SETMAR has demonstrated methylase activity and a DNA repair phenotype, its mode of action and the role of the transposase domain remain obscure. As a starting point to address this problem, we have dissected the activity of the transposase domain in the context of the full-length protein and the isolated transposase domain. Complete transposition of an engineered Hsmar1 transposon by the transposase domain was detected, although the extent of the reaction was limited by a severe defect for cleavage at the 3′ ends of the element. Despite this problem, SETMAR retains robust activity for the other stages of the Hsmar1 transposition reaction, namely, site-specific DNA binding to the transposon ends, assembly of a paired-ends complex, cleavage of the 5′ end of the element in Mn2+, and integration at a TA dinucleotide target site. SETMAR is unlikely to catalyze transposition in the human genome, although the nicking activity may have a role in the DNA repair phenotype. The key activity for the mariner domain is therefore the robust DNA-binding and looping activity which has a high potential for targeting the histone methylase domain to the many thousands of specific binding sites in the human genome provided by copies of the Hsmar1 transposon.

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