Human genome

Although the microbiome is established as an important regulator of health and disease, the role of viruses that inhabit asymptomatic humans (collectively, the virome) is less defined. While we are still characterizing what constitutes a healthy or diseased virome, an exciting next step is to move beyond correlations and toward identification of specific viruses and their precise mechanisms of beneficial or harmful immunomodulation.

3p vibransone 28-03-2024 3 2   Download

The biological importance and varied metabolic capabilities of specific microbial strains have long been established in the scientific community. Strains have, in the past, been largely defined and characterized based on microbial isolates.

16p vibransone 28-03-2024 7 1   Download

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

Human pluripotent stem cells (hPSCs) provide powerful models for studying cellular differentiations and unlimited sources of cells for regenerative medicine. However, a comprehensive single-cell level differentiation roadmap for hPSCs has not been achieved.

19p vimichaelfaraday 25-03-2022 14 1   Download

Recent sequencing technologies enable joint quantification of promoters and their enhancer regions, allowing inference of enhancer–promoter links. We show that current enhancer–promoter inference methods produce a high rate of false positive links. We introduce FOCS, a new inference method, and by benchmarking against ChIAPET, HiChIP, and eQTL data show that it results in lower false discovery rates and at the same time higher inference power.

14p vimichaelfaraday 25-03-2022 16 2   Download

Hepatocellular carcinoma (HCC) is one of the deadliest cancers. Research on HCC so far primarily focused on genes and provided limited information on genomic repeats, which constitute more than half of the human genome and contribute to genomic stability. In line with this, repeat dysregulation was significantly shown to be pathological in various cancers and other diseases. In this study, we aimed to determine the full repeat expression profile of HCC for the first time.

14p thiencuuchu 27-11-2021 21 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

Chương này gồm có những nội dung chính sau: Giới thiệu tóm tắt về dự án Human Genome; bài toán sequence alignment: Các vấn đề cần giải quyết, scoring system, lập trình động cho vấn đề pairwise alignment; bài toán local sequence alignment. Mời tham khảo.

32p tangtuy12 02-06-2016 111 7   Download

Không phải là người được trực tiếp đi dự Hội nghị nhưng nhờ Tiến sĩ Đỗ Năng Vinh có tham gia đã đem về quyển kỷ yếu các công trình đ-ợc trình bầy trong Hội nghị. Sau khi đọc thì tôi thấy cần thiết viết bài báo này để thông tin cùng các bạn đọc cũng nh- nếu may ra đến đ-ợc những ng-ời có trách nhiệm thấy rõ sự tiến bộ trong vùng về lãnh vực gen học phân tử nói chung, về gen học con người nhất là ứng dụng trong lãnh vực y học nói riêng....

3p sunshine_6 02-07-2013 39 2   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

Glofish is the first transgenic animal approved to be consumed by human in the USA  The insertion of different constructs of GFP into the fish genomes to give different green colors.The idea for recombinant DNA was first proposed by Peter Lobban, a graduate student of Prof. Dale Kaiser in the Biochemistry Department at Stanford University Medical School. The first publications describing the successful production and intracellular replication of recombinant DNA appeared in 1972 and 1973.

54p zingzing09 24-04-2013 77 5   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 41 1   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