Abstract

A systematic analysis of histone modifications between human segmental duplications shows that two seemingly identical genomic copies have distinct epigenomic properties.

Highlights

  • Sequencing and annotation of several mammalian genomes have revealed that segmental duplications are a common architectural feature of primate genomes; about 5% of the human genome is composed of large blocks of interspersed segmental duplications

  • Histone modification data in segmental duplications The segmental duplications in the human genome were downloaded from the UCSC browser [15,16]

  • Histone modification data were primarily obtained from a recent ChIP-Seq study, which mapped the genome-wide distributions of 20 histone lysine (K) or arginine (R) methylations, as well as H2A.Z, pol RNA polymerase II (II) and CTCF across the human genome [14]

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Summary

Introduction

Sequencing and annotation of several mammalian genomes have revealed that segmental duplications are a common architectural feature of primate genomes; about 5% of the human genome is composed of large blocks of interspersed segmental duplications. Previous studies have identified 25,000-30,000 pairs of SD regions (≥90% sequence identity, ≥1 kb), which occupy 56% of the human genome and arise primarily from duplication events that occurred after the divergence of the New World and Old World monkeys [2,3] Detailed characterization of these SDs indicates that several molecular mechanisms might have been involved in the origin and propagation. Recent investigations of duplicated protein coding genes or gene families have provided a glimpse into this important evolutionary process Those studies have shown that duplicated genes can evolve different expression patterns, leading to increased diversity and complexity of gene regulation, which in turn can facilitate an organism's adaptation to environmental change [6,7,8,9]. The expression of yeast duplicated genes appears to have evolved asymmetrically, with one copy changing its expression more rapidly than the other [6]

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