Concentration of inverted repeats along human DNA

Author:

Bastos Carlos A. C.12ORCID,Afreixo Vera3,Rodrigues João M. O. S.12ORCID,Pinho Armando J.12ORCID

Affiliation:

1. DETI – Department of Electronics, Telecommunications and Informatics , IEETA – Institute of Electronics and Informatics Engineering of Aveiro, University of Aveiro , 3810-193 Aveiro , Portugal

2. LASI – Intelligent Systems Associate Laboratory , Aveiro , Portugal

3. CIDMA – Center for Research and Development in Mathematics and Applications, DMAT – Department of Mathematics , University of Aveiro , 3810-193 Aveiro , Portugal

Abstract

Abstract This work aims to describe the observed enrichment of inverted repeats in the human genome; and to identify and describe, with detailed length profiles, the regions with significant and relevant enriched occurrence of inverted repeats. The enrichment is assessed and tested with a recently proposed measure (z-scores based measure). We simulate a genome using an order 7 Markov model trained with the data from the real genome. The simulated genome is used to establish the critical values which are used as decision thresholds to identify the regions with significant enriched concentrations. Several human genome regions are highly enriched in the occurrence of inverted repeats. This is observed in all the human chromosomes. The distribution of inverted repeat lengths varies along the genome. The majority of the regions with severely exaggerated enrichment contain mainly short length inverted repeats. There are also regions with regular peaks along the inverted repeats lengths distribution (periodic regularities) and other regions with exaggerated enrichment for long lengths (less frequent). However, adjacent regions tend to have similar distributions.

Funder

Fundação para a Ciência e a Tecnologia

Publisher

Walter de Gruyter GmbH

Subject

General Medicine

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