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Genomic structure and paralogous regions of the inversion breakpoint occurring between human chromosome 3p12.3 and orangutan chromosome 2

Yue, Ying; Grossmann, Barbel; Tsend-Ayush, Enkhjargal; Gruetzner, Frank; Ferguson-Smith, Malcolm A; Yang, F; Haaf, Thomas

Description

Intrachromosomal duplications play a significant role in human genome pathology and evolution. To better understand the molecular basis of evolutionary chromosome rearrangements, we performed molecular cytogenetic and sequence analyses of the breakpoint region that distinguishes human chromosome 3p12.3 and orangutan chromosome 2. FISH with region-specific BAC clones demonstrated that the breakpoint-flanking sequences are duplicated intrachromosomally on orangutan 2 and human 3q21 as well as at...[Show more]

dc.contributor.authorYue, Ying
dc.contributor.authorGrossmann, Barbel
dc.contributor.authorTsend-Ayush, Enkhjargal
dc.contributor.authorGruetzner, Frank
dc.contributor.authorFerguson-Smith, Malcolm A
dc.contributor.authorYang, F
dc.contributor.authorHaaf, Thomas
dc.date.accessioned2015-12-13T23:04:14Z
dc.identifier.issn1424-8581
dc.identifier.urihttp://hdl.handle.net/1885/85280
dc.description.abstractIntrachromosomal duplications play a significant role in human genome pathology and evolution. To better understand the molecular basis of evolutionary chromosome rearrangements, we performed molecular cytogenetic and sequence analyses of the breakpoint region that distinguishes human chromosome 3p12.3 and orangutan chromosome 2. FISH with region-specific BAC clones demonstrated that the breakpoint-flanking sequences are duplicated intrachromosomally on orangutan 2 and human 3q21 as well as at many pericentromeric and subtelomeric sites throughout the genomes. Breakage and rearrangement of the human 3p12.3-homologous region in the orangutan lineage were associated with a partial loss of duplicated sequences in the breakpoint region. Consistent with our FISH mapping results, computational analysis of the human chromosome 3 genomic sequence revealed three 3p12.3-paralogous sequence blocks on human chromosome 3q21 and smaller blocks on the short arm end 3p26→p25. This is consistent with the view that sequences from an ancestral site at 3q21 were duplicated at 3p12.3 in a common ancestor of orangutan and humans. Our results show that evolutionary chromosome rearrangements are associated with microduplications and microdeletions, contributing to the DNA differences between closely related species.
dc.publisherS Karger AG
dc.sourceCytogenetic and Genome Research
dc.titleGenomic structure and paralogous regions of the inversion breakpoint occurring between human chromosome 3p12.3 and orangutan chromosome 2
dc.typeJournal article
local.description.notesImported from ARIES
local.description.refereedYes
local.identifier.citationvolume108
dc.date.issued2005
local.identifier.absfor060407 - Genome Structure and Regulation
local.identifier.ariespublicationMigratedxPub13605
local.type.statusPublished Version
local.contributor.affiliationYue, Ying, Johannes Gutenberg University of Mainz
local.contributor.affiliationGrossmann, Barbel, Johannes Gutenberg University of Mainz
local.contributor.affiliationTsend-Ayush, Enkhjargal, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationGruetzner, Frank, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationFerguson-Smith, Malcolm A, University of Cambridge
local.contributor.affiliationYang, F, University of Cambridge
local.contributor.affiliationHaaf, Thomas, Johannes Gutenberg University of Mainz
local.description.embargo2037-12-31
local.bibliographicCitation.startpage98
local.bibliographicCitation.lastpage105
local.identifier.doi10.1159/000080807
dc.date.updated2015-12-12T07:54:26Z
local.identifier.scopusID2-s2.0-9244246873
CollectionsANU Research Publications

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