نتایج جستجو برای: trinucleotide

تعداد نتایج: 1983  

Journal: :Human molecular genetics 1996
A M Theodosiou N R Rodrigues M A Nesbit H J Ambrose H Paterson E McLellan-Arnold Y Boyd M A Leversha N Owen D J Blake A Ashworth K E Davies

We have identified a novel mouse gene encoding a protein that shows high homology to the dual-specificity tyrosine/threonine phosphatase family of proteins. The gene encodes a 5 kb transcript which is expressed predominantly in brain and lung and contains a translated complex trinucleotide repeat within the coding region. Using interspecific mouse backcross analysis, the gene has been localised...

Journal: :The Journal of biological chemistry 1970
J Smrt W Kemper T Caskey M Nirenberg

Modified trinucleotides, 3MeU-A-G+, 3MeU-A-A, 5MeUA-G, 5MeU-A-A, BrU-A-G, hU-A-G, and U-A-I (see J. BioZ. Chem., 241, 527 (1966)), were synthesized by a combination of organic and enzymatic methods. The activity of each trinucleotide as a template for peptide chain termination was determined. The attachment of a methyl group to the NB position of uracil eliminates the template activity of termi...

Journal: :Frontiers in neurology 2015
Sathiji Nageshwaran Richard Festenstein

The term "junk DNA" has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes. Repetitive regions are frequently heterochromatinized resulting in silencing of intrinsic and nearby genes. However, this is not a uniform rule, w...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1997
B M Davis M E McCurrach K L Taneja R H Singer D E Housman

Expansion of a CTG trinucleotide repeat in the 3' untranslated region (UTR) of DMPK, the gene encoding myotonic dystrophy protein kinase, induces the dominantly inherited neuromuscular disorder myotonic dystrophy (DM). Transcripts containing the expanded trinucleotide are abundant in differentiated cultured myoblasts, and they are spliced and polyadenylylated normally. However, mutant transcrip...

Journal: :Cell 1997
Sui Yu Marie Mangelsdorf Duncan Hewett Lynne Hobson Elizabeth Baker Helen J Eyre Naras Lapsys Denis Le Paslier Norman A Doggett Grant R Sutherland Robert I Richards

Fragile sites are nonstaining gaps in chromosomes induced by specific tissue culture conditions. They vary both in population frequency and in the culture conditions required for induction. Folate-sensitive fragile sites are due to expansion of p(CCG)n trinucleotide repeats; however, the relationship between sequence composition and the chemistry of induction of fragile sites is unclear. To cla...

Journal: :Cancer research 1995
E A Strauss M R Hosler P Herzog K Salhany R Louie C A Felix

We demonstrated a germline p53 replication error in two generations of a Li-Fraumeni family affected with liposarcoma, adrenocortical carcinoma, and osteosarcoma. The trinucleotide repeat mutation changed 5'-AGT GTG GTG GTG-3' at codons 215-218 to 5'-AGT TGG TTG GTG GTG-3'. The predicted protein would be elongated by one amino acid (val216-->trp leu) without a change in charge. Detection of p53...

Journal: :Genome research 2002
Branko Borstnik Danilo Pumpernik

Tandem repeats in GenBank primate nucleotide sequences annotated as protein coding regions are analyzed. It is found that only trinucleotide repeats show repeat enrichment well above the threshold of statistical significance. The statistics are improved by a simultaneous search for repeats on both the amino acid and nucleotide levels. The results of the analyses of natural sequences are interpr...

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