Disease relevance of Genome, Human

• We conclude that Bevi is a preferred integration site for the baboon type C provirus in the human genome [1].
• The mutation rate of the neurofibromatosis type 1 (NF1) gene is one of the highest in the human genome, with about 50 percent of cases being due to new mutations [2].
• SINE-R.C2 is a member of a previously described large retroposon family of the human genome, apparently derived from the human endogenous retrovirus, (HERV) K10, which is homologous to the mouse mammary tumor virus [3].
• With a working draft of the human genome now in hand, the availability of high-throughput genotyping, a plethora of genetic markers, and the development of new analytical methods, scientists are now turning their attention to common complex disorders such as diabetes, obesity, hypertension, and Alzheimer disease [4].
• Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome [5].

Psychiatry related information on Genome, Human

• The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution [6].
• These fortification programs will also help adults by increasing serum folate concentration, eradicating folate deficiency anemia, providing human genome stability and reducing homocysteine serum concentration, which will probably prevent heart attacks and strokes, and may prevent colon cancer and Alzheimer's disease [7].

High impact information on Genome, Human

• The available outline of the human genome contains 48 ABC genes; 16 of these have a known function and 14 are associated with a defined human disease [8].
• We have applied this strategy to map p53 targets in the human genome [9].
• Juvenile hemochromatosis has previously been linked to the centromeric region of chromosome 1q (refs. 3-6), a region that is incomplete in the human genome assembly [10].
• Protein tyrosine phosphatases in the human genome [11].
• Here, we present the set of 107 genes in the human genome that encode members of the four protein tyrosine phosphatase (PTP) families [11].

Chemical compound and disease context of Genome, Human

• Use of this cloned bovine leukemia virus DNA allowed us, for the first time, to definitely rule out the existence of any endogenous bovine leukemia virus sequence in the bovine, ovine, caprine, murine, feline, chicken, or human genomes [12].
• An analysis of the human genome demonstrated that ERV3 is one of a group of 41 highly related elements (ERV3-like HERVs) which use proline, isoleucine, or arginine tRNA in their primer binding sites [13].
• It has recently become clear that the large majority of genomic 5-methylcytosine is actually in parasitic sequence elements (transposons and endogenous retroviruses), and the primary function of DNA methylation now appears to be defence against the large burden of parasitic sequence elements, which constitute more than 35% of the human genome [14].

Biological context of Genome, Human

• Two erbA homologs, termed ear-1 and ear-7, are present in the human genome on chromosome 17 [15].
• A global map of p53 transcription-factor binding sites in the human genome [9].
• Our data indicate that the new SCA10 intronic ATTCT pentanucleotide repeat in SCA10 patients is unstable and represents the largest microsatellite expansion found so far in the human genome [16].
• Double-strand breaks on YACs during yeast meiosis may reflect meiotic recombination in the human genome [17].
• The identification of genes underlying quantitative-trait loci (QTL) for complex diseases, such as rheumatoid arthritis, is a challenging and difficult task for the human genome project [18].

Anatomical context of Genome, Human

• Three paralogous regions of the human genome contain sets of linked genes homologous to various loci in the MHC class I, class II, and/or class III regions, providing insight into the organization of the "proto MHC" before the emergence of the adaptive immune system in the jawed vertebrates [19].
• Following the sequencing of the human genome, data-mining efforts have revealed the existence of a new histamine receptor that is expressed at high levels in mast cells and leukocytes [20].
• We report the application of the polymerase chain reaction to direct amplification of human DNA from hybrid cells containing regions of the human genome in rodent cell backgrounds using primers directed to the human Alu repeat element [21].
• Southern blot analysis indicated that the ATDC gene is present in a single copy in the human genome; however, RNA blot analysis revealed mRNA of several sizes (1.8, 2.6, 3.0, 4.7, and 5.7 kb) that varied among different cell lines [22].
• This suggests that the tissue-specific expression of PTN due to the HERV insertion in the human genome supports the highly aggressive growth of human choriocarcinoma and possibly of the human trophoblast [23].

Associations of Genome, Human with chemical compounds

• The organization of three sequence classes--single copy, repetitive, and inverted repeated sequences--within the human genome has been studied by renaturation techniques, hydroxylapatite binding methods, and DNA hyperchromism [24].
• Four enzymes that catalyse the hydrolysis of the glycosylic bond of dU in DNA to yield an apyridiminic site as the first step in base excision repair have been identified in the human genome [25].
• PARTICIPANTS--Scientists, ethicists, lawyers, and consumers selected by the National Center for Human Genome Research and the Centers for Disease Control and Prevention to represent a wide array of opinions [26].
• These changes all represent C----T transitions at CpG dinucleotides, proposed "hot spots" for mutation in the human genome [27].
• Three genes closely related to the D1 dopamine receptor were identified in the human genome [28].

Gene context of Genome, Human

• We report here the identification by positional cloning, in a region not covered by the human genome sequencing projects, of a new gene, BSND, as the cause of BSND [29].
• Here we describe a protein, Mal (MyD88-adapter-like), which joins MyD88 as a cytoplasmic TIR-domain-containing protein in the human genome [30].
• We now have evidence that the human genome possesses an additional relaxin-related gene (designated human relaxin gene H2) which appears to be selectively expressed in the ovary during pregnancy [31].
• Glucose-6-phosphate dehydrogenase (G6PD) mutations that result in reduced enzyme activity have been implicated in malarial resistance and constitute one of the best examples of selection in the human genome [32].
• Despite the presence of at least five loci in the human genome, on chromosomes 2q, 3p, 11q, 15q and 16q, as many as 50% of the mutations appear to map to the BBS1 locus on 11q13 [33].

Analytical, diagnostic and therapeutic context of Genome, Human

• Southern blot analysis indicates that there are four sequences in the human genome related to the mouse t-complex gene Tcp-1 [34].
• By in situ hybridization we have mapped the gene encoding the p50 subunit of NF-kappa B to the 4q23-4q25 region of the human genome and the H1-H3 region of the murine chromosome 3 [35].
• An src/yes-related novel gene named syn (SYN in human gene nomenclature) has been identified in the human genome on chromosome 6 and characterized by molecular cloning [36].
• Studies in animal models of inflammatory arthritis have identified a number of putative vulnerability loci but the homologous regions in the human genome have not previously been investigated as candidate RA susceptibility loci [37].
• Clinical trials have been initiated with Apo2L/TRAIL (Genentech) and agonistic mAbs to TRAIL receptors, -R1 and -R2 (Human Genome Sciences) [38].

References