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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Sequence Analysis

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Disease relevance of Sequence Analysis


Psychiatry related information on Sequence Analysis


High impact information on Sequence Analysis

  • Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals [9].
  • Sequence analysis in individuals with PCD with randomization of LR asymmetry identified mutations resulting in non-functional DNAH5 proteins [10].
  • Sequence analysis of the complete region and subsequent association analyses revealed that a DNA variant, C/T-13910, roughly 14 kb upstream from the LCT locus, completely associates with biochemically verified lactase non-persistence in Finnish families and a sample set of 236 individuals from four different populations [11].
  • Sequence analysis of genes located in the 11q13 interval disclosed mutations in a gene homologous to the murine guanine nucleotide-binding protein (G protein), gamma3-linked gene (Gng3lg) in all BSCL2-linked families [12].
  • Sequence analysis of this gene in seven SPG4-linked pedigrees revealed several DNA modifications, including missense, nonsense and splice-site mutations [13].

Chemical compound and disease context of Sequence Analysis


Biological context of Sequence Analysis


Anatomical context of Sequence Analysis

  • After the cloning of cDNAs and amplification by PCR, sequence analysis revealed two equally distributed populations of cDNAs for LH in the AT750 cell line [24].
  • We further demonstrate by partial sequence analysis that AChR-delta is synthesized with a transient NH2-terminal signal sequence of 21 residues that is cleaved off during integration into microsomal membranes [25].
  • Alkali fractionation of microsomes indicated that NAF is a soluble protein in the lumen of the ER, and the results of NH2-terminal sequence analysis showed that the FRED is cleaved at a site predicted to be recognized by signal peptidase [26].
  • Consistent with such an association, Nup84 is found to be exposed on the cytoplasmic face of the nuclear pore complex. cDNA sequence analyses indicate that Nup84 contains neither the GLFG nor the XFXFG repeats that are a characteristic of a number of other nuclear pore complex proteins [27].
  • Computer-aided sequence analysis identified a pronounced homology of SR13 to a growth arrest-specific mRNA (Gas-3) that is expressed in resting but not in proliferating 3T3 mouse fibroblasts [28].

Associations of Sequence Analysis with chemical compounds

  • Quantitative sequence analyses suggest the existence of a common underlying structure in each TPR unit that consists of amphipathic alpha-helical regions punctuated by proline-induced turns [29].
  • The pattern of cleavage products and sequence analysis of one fragment indicated that the first scission occurred between leucine 6 and lysine 7 [30].
  • From the sequence analysis, the previously unidentified tRNA has been shown to have an anticodon sequence (5'-UAG-3') corresponding to a leucine codon [31].
  • Automated sequence analyses of 14C-lysine-labeled macronuclear H3 together with either 3H-lysine-labeled H3S or H3F demonstrated that H3F is derived from H3S by a proteolytic cleavage which removes six residues from the amino terminus [32].
  • Sequence analysis of complementary DNA clones has shown that LACI contains three tandemly repeated Kunitz-type serine protease inhibitory domains [33].

Gene context of Sequence Analysis

  • First, sequence analysis reveals substantial homology between Jagged and invertebrate ligands for the LIN-12/Notch proteins [34].
  • Sequence analysis of the sqt-1 gene shows that it encodes a 32 kd collagen polypeptide that is similar in size and structure to other members of the C. elegans collagen family [35].
  • KIN28, a member of the p34cdc2/CDC28 family of protein kinases, is identified as a subunit of yeast RNA polymerase transcription factor IIH (TFIIH) on the basis of sequence determination, immunological reactivity, and copurification [36].
  • Sequence determination of cloned cDNAs and genes of the three classes of interferon (IFN-alpha, -beta and -gamma) has revealed more than a dozen members of the human IFN-alpha gene family and a single gene for IFN-beta [37].
  • Because so much of the work on IL-2 has been done in the human and mouse, we sought to obtain cDNA encoding murine IL-2, and we now report the cloning, expression and sequence analysis of murine IL-2 cDNAs [38].

Analytical, diagnostic and therapeutic context of Sequence Analysis

  • In contrast to conservation of an immunodominant epitope recognized in pathogenic and nonpathogenic strains by monoclonal FA7 and human immune sera, amplification and sequence analysis of a 1,4000-bp fragment of this gene from a fresh nonpathogenic isolate by use of the PCR demonstrate regions of significant sequence divergence in this antigen [39].
  • After gel filtration and reverse-phase high-performance liquid chromatography of 5637 supernatants, this activity could be attributed to a 15-kD protein that was further identified by NH2-terminal sequence analysis as the serine proteinase inhibitor antileukoproteinase (ALP) [40].
  • Sequence analysis and Northern blot analysis revealed that radixin and ezrin are similar but distinct (74.9% identity), leading us to conclude that radixin is a novel member of the band 4.1 family [41].
  • Finally, sequence analysis and electron microscopy reveal the presence within the myosin II rodlike tail of a well-defined hinge region where sharp bending can occur [42].
  • cDNA and genomic DNA clones for the precursor of a mammalian neuropeptide tachykinin, neuromedin K, have been isolated and characterized by molecular cloning and sequence analysis [43].


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  11. Identification of a variant associated with adult-type hypolactasia. Enattah, N.S., Sahi, T., Savilahti, E., Terwilliger, J.D., Peltonen, L., Järvelä, I. Nat. Genet. (2002) [Pubmed]
  12. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Magré, J., Delépine, M., Khallouf, E., Gedde-Dahl, T., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Mégarbané, A., Bachy, A., Verloes, A., d'Abronzo, F.H., Seemanova, E., Assan, R., Baudic, N., Bourut, C., Czernichow, P., Huet, F., Grigorescu, F., de Kerdanet, M., Lacombe, D., Labrune, P., Lanza, M., Loret, H., Matsuda, F., Navarro, J., Nivelon-Chevalier, A., Polak, M., Robert, J.J., Tric, P., Tubiana-Rufi, N., Vigouroux, C., Weissenbach, J., Savasta, S., Maassen, J.A., Trygstad, O., Bogalho, P., Freitas, P., Medina, J.L., Bonnicci, F., Joffe, B.I., Loyson, G., Panz, V.R., Raal, F.J., O'Rahilly, S., Stephenson, T., Kahn, C.R., Lathrop, M., Capeau, J. Nat. Genet. (2001) [Pubmed]
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