The Human Genome

Epigenetic defects (gain or loss of DNA methylation) of the human ICR1 11p15 domain result in two opposite foetal growth disorders (BWS and SRS) depending on which parental allele is affected. A few deletions within ICR1 have been reported in familial BWS cases with ICR1 gain of methylation, however the mechanism(s) of the DNA methylation defects at ICR1 remains largely unknown in most BWS and SRS patients.

83p runthenight07 01-03-2023 9 3   Download

Single-nucleotide polymorphisms (SNP) are common genetic changes in the human genome. In recent time, many scientists have shown their interests in studies on SNPs’ roles in the pathological risk especially in cancer and metabolic diseases.

27p tamynhan0 15-06-2020 18 1   Download

The human immunodeficiency virus type 1, HIV-1, genome encodes a highly conserved regulatory gene product, Vpr (96 amino acids), which is incorporated into virions in quantities equivalent to those of the viral Gag protein. In infected cells, Vpr is believed to function during the early stages of HIV-1 replication (such as transcription of the proviral genome and migration of preintegration nuclear complex), blocks cells in G2 phase and triggers apoptosis.

10p system191 01-06-2013 46 4   Download

We report here the full coding sequence of a novel mouse putative membrane-associated mucin containing three extracellular EGF-like motifs and a mucin-like domain consisting of at least 20 tandem repeats of 124–126 amino acids. Screening a cosmid and a BAC libraries allowed to isolate several genomic clones. Genomic and cDNA sequence comparisons showed that the gene consists of 25 exons and 24 introns covering a genomic region of  52 kb. The first intron is  16 kb in length and is followed by an unusually large exon ( 9.5 kb) encoding Ser/Thr-rich tandemly repeated sequences....

10p system191 01-06-2013 44 4   Download

The human MUC4 gene encodes a large membrane-associated mucin, characterized by a mucin tandem repeat domain and a growth factor-like transmembrane domain. In addition to the originally published sequence (sv0-MUC4), several MUC4 cDNA sequences (called sv1-MUC4 to sv21MUC4, MUC4/X, MUC4/Y) from various tissues and cell lines have been recently described. They differ from sv0MUC4 by deletions and/or insertions located in the 3¢ region or, for two of them, by deletion of the central repetitive domain.

8p research12 01-06-2013 42 4   Download

Completed eukaryotic genomes were screened for medium-chain dehydrogenases/reductases (MDR). In the human genome, 23 MDR forms were found, a number that prob-ably will increase, because the genome is not yet fully inter-preted. Partial sequences already indicate that at least three furthermembers exist.WithintheMDRsuperfamily, at least eight families were distinguished.

10p research12 23-04-2013 42 2   Download

The complete coding sequence of a BDIX rat gene homo-logous to the human ABO gene was determined. Identifi-cation of the exon–intron boundaries, obtained by comparison of the coding sequence with rat genomic sequences from data banks, revealed that the rat gene structure is identical to that of the human ABO gene. It localizes to rat chromosome 3 (q11-q12), a region homolo-gous to human 9q34.

8p research12 23-04-2013 39 2   Download

A sialylated lacto-N-neotetraose (Sial-lNnT) structural unit was identified and structurally characterized in the lipo-polysaccharide (LPS) from the genome-sequenced strain Road (RM118) of the human pathogenHaemophilus influ-enzaegrown in the presence of sialic acid. A combination of molecular genetics, MS and NMR spectroscopy techniques showed that this structural unit extended from the proximal heptose residue of the inner core regionof theLPSmolecule.

11p research12 23-04-2013 36 2   Download

Aquaporin adipose (AQPap), which we identi®ed from human adipose tissue, is a glycerol channel in adipocyte [Kishida et al. (2000) J. Biol. Chem.275, 20896±20902]. In the current study, we determined the genomic structure of the human AQPap gene, and identi®ed three AQPap-like genes that resembled (95%)AQPap, with little expression in human tissues.

13p research12 23-04-2013 33 2   Download

Human hepatitis delta (HDV) ribozyme is one of small ribozymes, such as hammerhead and hairpin ribozymes, etc. Its secondary structure shows pseudoknot structure com-posed of four stems (I to IV) and three single-stranded regions (SSrA, -B and -C). The 3D structure of 3¢-cleaved product of genomic HDV ribozyme provided extensive information about tertiary hydrogen bonding interactions between nucleotide bases, phosphate oxygens and 2¢OHs including new stem structure P1.1.

12p tumor12 22-04-2013 38 3   Download

Wehave identifiedanovelmammaliangene, termednicolin1 gene (NICN1), that is present in human, dog and mouse, whereas it is absent from the available genome sequences of nonmammalian organisms. TheNICN1gene consists of six exons and spans about 6 kb of genomic DNA. It encodes a 213 amino acid protein that does not belong to any known protein family. Experiments using green fluorescent protein (GFP)-taggednicolin1 fusionproteins indicate that nicolin1 is a nuclear protein.

6p tumor12 22-04-2013 51 2   Download

Campylobacter jejuniinfections are one of the leading causes of human gastroenteritis and are suspected of being a pre-cursor to Guillain–Barre´ and Miller–Fisher syndromes. Recently, the complete genome sequence ofC. jejuniNCTC 11168wasdescribed. In this study, themolecular structureof the lipooligosaccharide and capsular polysaccharide of C. jejuniNCTC 11168 was investigated. The lipooligosac-charide was shown to exhibit carbohydrate structures anal-ogous to the GM1a and GM2 carbohydrate epitopes of human gangliosides (shown below)...

18p tumor12 22-04-2013 41 2   Download

Themosquito,Anopheles gambiae, is an important vector of Plasmodium falciparum malaria. Full genome analysis revealed that, as in Drosophila melanogaster,the enzyme glutathione reductase is absent inA. gambiaeand func-tionally substituted by the thioredoxin system. The key enzyme of this system is thioredoxin reductase-1, a homo-dimeric FAD-containing protein of 55.3 kDa per subunit, which catalyses the reaction NADPH + H + + thio-redoxin disulfidefiNADP + + thioredoxin dithiol.

10p tumor12 20-04-2013 31 3   Download

It was shown previously [Riedinger, H. J., van Betteraey-Nikoleit, M & Probst, H. (2002)Eur. J. Biochem.269, 2383–2393] that initiation ofin vivo SV40 DNA replication is reversibly suppressed by hypoxia in a state where viral minichromosomes exhibit a nearly complete set of repli-cation proteins. Reoxygenation triggers fast completion and post-translational modifications.

11p tumor12 20-04-2013 30 2   Download

BLASTanalysis of the human and mouse genome sequence databases using the sequence of the human CMP-sialic acid:b-galactoside a-2,6-sialyltransferase cDNA (hST6Gal I, EC2.4.99.1) as a probe allowed us to identify a putative sialyltransferase gene on chromosome 2. The sequence of the corresponding cDNA was also found as an expressed sequence tag of human brain.

12p tumor12 20-04-2013 28 2   Download

One of the most drastic post-translational modification of proteins in eu-karyotic cells is poly(ADP-ribosyl)ation, catalysed by a family enzymes termed poly(ADP-ribose) polymerases (PARPs). In the human genome, 18 different genes have been identified that all encode PARP family members.

14p fptmusic 11-04-2013 52 2   Download

The leukocyte-derived arginine aminopeptidase (L-RAP) is the second ami-nopeptidase localized in the endoplasmic reticulum (ER) processing anti-genic peptides presented to major histocompatibility complex (MHC) class I molecules. In this study, the genomic organization of the gene encoding human L-RAP was determined and the regulatory mechanism of its expres-sion was elucidated.

13p awards 05-04-2013 55 5   Download

Conservation of microRNAs (miRNAs) among species suggests that they bear conserved biological functions. However, sequencing of new miRNAs has not always been accompanied by a search for orthologues in other spe-cies. I report herein the results of a systematic search for interspecies ortho-logues of miRNA precursors, leading to the identification of 35 human and 45 mouse new putative miRNA genes. MicroRNA tracks were written to visualize miRNAs in human and mouse genomes on the UCSC Genome Browser....

15p awards 05-04-2013 39 7   Download

Licensing origins for replication upon completion of mitosis ensures genomic stability in cycling cells. Cdt1 was recently discovered as an essential licensing factor, which is inhibited by geminin. Over-expression of Cdt1 was shown to predis-pose cells for malignant transformation. We show here that Cdt1 is down-regulated at both the protein and RNA level when primary human fibroblasts exit the cell cycle into G0, and its expression is induced as cells re-enter the cell cycle, prior to S phase onset. ...

11p awards 05-04-2013 28 3   Download

We used a combined computer and biochemical approach to characterize human pyridoxine 5¢-phosphate oxidase (PNPO).The human PNPOgene is composed of seven exons and six introns, and spans approximately 8 kb.All exon/intron junctions contain the gt/ag consensus splicing site.The absence of TATA-like sequences, the presence of Sp1-binding sites and more importantly, the presence of CpG islands in the regulatory region of thePNPOgene are characteristic features of housekeeping genes.

10p dell39 03-04-2013 47 3   Download