scholarly journals Assembly, Annotation, and Integration of UNIGENE Clusters into the Human Genome Draft

2001 ◽  
Vol 11 (5) ◽  
pp. 904-918
Author(s):  
Degen Zhuo ◽  
Wei D. Zhao ◽  
Fred A. Wright ◽  
Hee-Yung Yang ◽  
Jian-Ping Wang ◽  
...  
Keyword(s):  
Human Genome ◽  
Positional Cloning ◽  
Physical Map ◽  
Sequence Contigs ◽  
New Genes ◽  
Human Genes ◽  
Individual Transcript ◽  
Genome Draft ◽  
Human Transcript ◽  
The Individual

The recent release of the first draft of the human genome provides an unprecedented opportunity to integrate human genes and their functions in a complete positional context. However, at least three significant technical hurdles remain: first, to assemble a complete and nonredundant human transcript index; second, to accurately place the individual transcript indices on the human genome; and third, to functionally annotate all human genes. Here, we report the extension of the UNIGENE database through the assembly of its sequence clusters into nonredundant sequence contigs. Each resulting consensus was aligned to the human genome draft. A unique location for each transcript within the human genome was determined by the integration of the restriction fingerprint, assembled genomic contig, and radiation hybrid (RH) maps. A total of 59,500 UNIGENE clusters were mapped on the basis of at least three independent criteria as compared with the 30,000 human genes/ESTs currently mapped in Genemap'99. Finally, the extension of the human transcript consensus in this study enabled a greater number of putative functional assignments than the 11,000 annotated entries in UNIGENE. This study reports a draft physical map with annotations for a majority of the human transcripts, called the Human Index of Nonredundant Transcripts (HINT). Such information can be immediately applied to the discovery of new genes and the identification of candidate genes for positional cloning.

scholarly journals A4Mb High Resolution BAC Contig on Bovine Chromosome1q12and Comparative Analysis With Human Chromosome21q22

2005 ◽  
Vol 6 (4) ◽  
pp. 194-203 ◽  
Author(s):  
Cord Drögemüller ◽  
Anne Wöhlke ◽  
Tosso Leeb ◽  
Ottmar Distl
Keyword(s):  
Positional Cloning ◽  
Physical Map ◽  
Dominant Gene ◽  
Bac Library ◽  
Exact Order ◽  
Bac Contig ◽  
Nucleotide Sequence Data ◽  
New Genes ◽  
Human Genes ◽  
First Time

The bovine RPCI-42 BAC library was screened to construct a sequence-ready ~4 Mb single contig of 92 BAC clones on BTA 1q12. The contig covers the region between the genesKRTAP8P1andCLIC6. This genomic segment in cattle is of special interest as it contains the dominant gene responsible for the hornless or polled phenotype in cattle. The construction of the BAC contig was initiated by screening the bovine BAC library with heterologous cDNA probes derived from 12 human genes of the syntenic region on HSA 21q22. Contig building was facilitated by BAC end sequencing and chromosome walking. During the construction of the contig, 165 BAC end sequences and 109 single-copy STS markers were generated. For comparative mapping of 25 HSA 21q22 genes, genomic PCR primers were designed from bovine EST sequences and the gene-associated STSs mapped on the contig. Furthermore, bovine BAC end sequence comparisons against the human genome sequence revealed significant matches to HSA 21q22 and allowed thein silicomapping of two new genes in cattle. In total, 31 orthologues of human genes located on HSA 21q22 were directly mapped within the bovine BAC contig, of which 16 genes have been cloned and mapped for the first time in cattle. In contrast to the existing comparative bovine–human RH maps of this region, these results provide a better alignment and reveal a completely conserved gene order in this 4 Mb segment between cattle, human and mouse. The mapping of known polled linked BTA 1q12 microsatellite markers allowed the integration of the physical contig map with existing linkage maps of this region and also determined the exact order of these markers for the first time. Our physical map and transcript map may be useful for positional cloning of the putative polled gene in cattle. The nucleotide sequence data reported in this paper have been submitted to EMBL and have been assigned Accession Numbers AJ698510–AJ698674.

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 Pathogenesis of atherosclerosis of arteries of the lower extremities: candidate genes and their polymorphism

2012 ◽  
Vol 93 (2) ◽  
pp. 311-314
Author(s):  
M N Katina ◽  
R F Gayfullina ◽  
V V Valiullin ◽  
A A Rizvanov
Keyword(s):  
Personalized Medicine ◽  
Early Diagnosis ◽  
Human Genome ◽  
Literature Search ◽  
Lower Extremities ◽  
Disease Course ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Human Genes ◽  
The Individual

Personalized medicine involves the use of genetic methods 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 different varieties of alleles of human genes (polymorphism) and predisposition to certain diseases. Currently there are more than 10 million single-nucleotide polymorphisms in the human genome, but 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 Saturation Mapping of a Gene-Rich Recombination Hot Spot Region in Wheat

Genetics ◽  
2000 ◽  
Vol 154 (2) ◽  
pp. 823-835 ◽  
Author(s):  
Justin D Faris ◽  
Karri M Haen ◽  
Bikram S Gill
Keyword(s):  
Positional Cloning ◽  
Physical Map ◽  
Hot Spot ◽  
Chromosome Breakage ◽  
Small Chromosome ◽  
Gene Density ◽  
Chromosome 5B ◽  
High Gene ◽  
The Many ◽  
Recombination Hot Spots

AbstractPhysical mapping of wheat chromosomes has revealed small chromosome segments of high gene density and frequent recombination interspersed with relatively large regions of low gene density and infrequent recombination. We constructed a detailed genetic and physical map of one highly recombinant region on the long arm of chromosome 5B. This distally located region accounts for 4% of the physical size of the long arm and at least 30% of the recombination along the entire chromosome. Multiple crossovers occurred within this region, and the degree of recombination is at least 11-fold greater than the genomic average. Characteristics of the region such as gene order and frequency of recombination appear to be conserved throughout the evolution of the Triticeae. The region is more prone to chromosome breakage by gametocidal gene action than gene-poor regions, and evidence for genomic instability was implied by loss of gene collinearity for six loci among the homeologous regions. These data suggest that a unique level of chromatin organization exists within gene-rich recombination hot spots. The many agronomically important genes in this region should be accessible by positional cloning.

scholarly journals Criminal Law Protection of Reproductive Health: Current Challenges

2019 ◽  
Vol 12 (2) ◽  
pp. 147-153
Author(s):  
E. L. Sidorenko
Keyword(s):  
Reproductive Health ◽  
Human Genome ◽  
Criminal Law ◽  
Policy Development ◽  
Practical Importance ◽  
Criminal Policy ◽  
Criminal Code ◽  
Research Findings ◽  
The Individual ◽  
Criminal Legislation

The subject of the research is the specifics of the criminal law protection of reproductive health in the Russian legislation. The topic was chosen due to the increasing dynamics of crimes related to limitation on the reproductive rights of women and men and unauthorized manipulation of the human genome. Despite the growing need for providing a regulatory framework for this kind of relationships, the system of their criminal law protection is only beginning to take shape, therefore, a necessity arises to revise traditional approaches to the protection of the individual. Therefore, the purpose of the paper was to understand the system of criminal law protection of reproductive health in terms of its compliance with trends of medical practices and dynamics of socially significant diseases based on both traditional principles of scientific analysis and the results of applying sociological methods of data processing, which made it possible to identify the most significant directions of the Russian criminal policy development. Moreover, the critical analysis method was used in the research that showed the inconsistency of the system of criminal law prevention of criminal abortions, contamination with socially significant diseases and illegal use of the human genome. Based on the research findings, an author’s model of criminal prevention of attacks on reproductive health has been built and its systemic assessment is given. It is concluded that the legislator is inconsistent in assessing the attributes of an unlawful abortion; the accounting of contamination with certain socially significant diseases is inadequate; the laws prohibiting the use of the human genome need to be included into the Criminal Code of the Russian Federation. The conclusions formulated in the paper have practical importance and can be taken into account by the legislator in the reform of the current criminal legislation.

scholarly journals The Epidemiology, Genetics and Future Management of Syndactyly

2012 ◽  
Vol 6 (1) ◽  
pp. 14-27 ◽  
Author(s):  
D Jordan ◽  
S Hindocha ◽  
M Dhital ◽  
M Saleh ◽  
W Khan
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant Trait ◽  
Shh Pathway ◽  
New Genes ◽  
Wide Range ◽  
Zone Of Polarizing Activity ◽  
The Individual ◽  
Hand Defect ◽  
Original Classification ◽  
Future Management

Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance. There are currently nine types of phenotypically diverse non-syndromic syndactyly, an increase since the original classification by Temtamy and McKusick(1978). Non-syndromic syndactyly is inherited as an autosomal dominant trait, although the more severe presenting types and sub types appear to have autosomal recessive and in some cases X-linked hereditary. Gene research has found that these phenotypes appear to not only be one gene specific, although having individual localised loci, but dependant on a wide range of genes and subsequent signalling pathways involved in limb formation. The principal genes so far defined to be involved in congenital syndactyly concern mainly the Zone of Polarizing Activity and Shh pathway. Research into the individual phenotypes appears to complicate classification as new genes are found both linked, and not linked, to each malformation. Consequently anatomical, phenotypical and genotypical classifications can be used, but are variable in significance, depending on the audience. Currently, management is surgical, with a technique unchanged for several decades, although future development will hopefully bring alternatives in both earlier diagnosis and gene manipulation for therapy.

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.

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