6533b861fe1ef96bd12c4406

RESEARCH PRODUCT

Segmental duplication associated with evolutionary instability of human chromosome 3p25.1

Bärbel GrossmannThomas HaafYing YueEnkhjargal Tsend-ayushFrank Grützner

subject

BiologyEvolution MolecularChromosomal InstabilityGene DuplicationYeastsChromosome regionsGeneticsmedicineAnimalsHumansMolecular BiologyIn Situ Hybridization FluorescencePhylogenyGenetics (clinical)Segmental duplicationGeneticsBacterial artificial chromosomeGorilla gorillamedicine.diagnostic_testChromosome MappingKaryotypeChromosome 17 (human)KaryotypingChromosomes Human Pair 3Chromosome 21Chromosome 22Fluorescence in situ hybridization

description

Fluorescence in situ hybridization (FISH) of human bacterial artificial chromosome (BAC) clones to orangutan metaphase spreads localized a breakpoint between human chromosome 3p25.1 and orangutan chromosome 2 to a <30-kb interval. The inversion occurred in a relatively gene-rich region with seven genes within 500 kb. The underlying breakpoint is closely juxtaposed to validated genes, however no functional gene has been disrupted by the evolutionary rearrangement. An approximately 21-kb DNA segment at the 3p25.1 breakpoint region has been duplicated intrachromosomally and interchromosomally to multiple regions in the orangutan and human genomes, providing additional evidence for the role of segmental duplications in hominoid chromosome evolution.

yearjournalcountryeditionlanguage
2005-06-02Cytogenetic and Genome Research
https://doi.org/10.1159/000089871