The birth of a human-specific neural gene by incomplete duplication and gene fusion.

ABSTRACT:

Background

Gene innovation by duplication is a fundamental evolutionary process but is difficult to study in humans due to the large size, high sequence identity, and mosaic nature of segmental duplication blocks. The human-specific gene hydrocephalus-inducing 2, HYDIN2, was generated by a 364 kbp duplication of 79 internal exons of the large ciliary gene HYDIN from chromosome 16q22.2 to chromosome 1q21.1. Because the HYDIN2 locus lacks the ancestral promoter and seven terminal exons of the progenitor gene, we sought to characterize transcription at this locus by coupling reverse transcription polymerase chain reaction and long-read sequencing.

Results

5' RACE indicates a transcription start site for HYDIN2 outside of the duplication and we observe fusion transcripts spannin

SUBMITTER: Dougherty ML 

PROVIDER: S-EPMC5345166 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature