An anthropoid-specific segmental duplication on human chromosome 1q22

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

Gene duplication is an important source of phenotypic change and adaptive evolution. We leverage a haploid hydatidiform mole to identify highly identical sequences missing from the reference genome, confirming that the cortical development gene Slit-Robo Rho GTPase-activating protein 2 (SRGAP2) duplicated three times exclusively in humans. We show that the promoter and first nine exons of SRGAP...

Patterns of segmental duplication in the human genome.

We analyzed the completed human genome for recent segmental duplications (size > or = 1 kb and sequence similarity > or = 90%). We found that approximately 4% of the genome is covered by duplications and that the extent of segmental duplication varies from 1% to 14% among the 24 chromosomes. Intrachromosomal duplication is more frequent than interchromosomal duplication in 15 chromosomes. The d...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms.

KIAA0187 is a gene of unknown function that maps to 10q11 and has been subject to recent duplication events. Here we analyze 18 human paralogs of this gene and show that paralogs of exons 14-23 were formed through satellite-associated pericentromeric-directed duplication, whereas paralogs of exons 1-9 were created via chromosome-specific satellite-independent duplications. In silico, Northern, ...

On Bahinia pondaungensis, an Alleged Early Anthropoid

In order to assess the orientation of the orbit of Bahinia, a middle Eocene fossil from Mynamar that has been interpreted as an anthropoid, laser surface scanning was used to develop three-dimensional models of the one facial specimen of Bahinia for comparison with Notharctus and Rooneyia, examples of a relatively early strepsirhine and haplorhine, respectively. Paired 3D montages were produced...