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Title: Characteristics of microsatellite trinucleotide sequences in humane genome with special taking sequences that cause neurodegenerative disease into consideration


Characteristics of 64 possible tandem trinucleotide repeats (TSSRs) from Homo sapiens (hs), Mus musculus (mm) and Ratus norvegicus (rn) genomes are presented. Comparative analysis of TSSR frequency as depending on their repetitiveness and similarity of the TSSR length distributions is shown. Comparative analysis of TSSR sequence motifs and association between type of motif and its length (n) using Z coefficient (equivalent ρ-coefficient) method (measuring the association between variables in contingency tables) is presented. These analyses were carried out in context of neurodegenerative diseases based on trinucleotide tandems. The length of these tandems and their relation to other TSSR is estimated. It was found that the higher repetitiveness (n) the lower frequency of trinucleotides tandems. Differences between genomes under consideration, especially in medium size of TSSR were discussed. A significantly higher frequency off A- and T-rich tandems is observed in the human genome (as well as in human mRNA). This observation also applies to mm and rn, although lower abundant in proportion to humane genomes was found. A significantly higher frequency of G- and C-rich tandems is observed in rn and mm. The origin of elongation (or shortening) of TSSR seems to be neither frequency nor length dependent. The results of TSSR analysis presented in this work suggest that neurodegenerative disease-related microsatellites do not differ versus the other TSSR. CAG occurs with relatively high frequency in human mRNA, although there are other TSSR with higher frequency that do not cause comparable disease disorders. It suggests that the mechanism of TSSR instability is not the only origin of neurodegenerative diseases.

Level of degree:

2 - studia doktoranckie

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Degree grantor:

Wydział Lekarski


Irena Roterman-Konieczna

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tylko w bibliotece

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Biblioteka Medyczna Uniwersytetu Jagiellońskiego - Collegium Medicum

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Last modified:

Jun 24, 2019

In our library since:

Nov 21, 2012

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Edition name Date
ZB-105401 Jun 24, 2019


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