Yonggang Ji

TL;DR: It is postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion and proposed that active transcription of these repeats in male and female germ cells may facilitate the homologously recombination process.

TL;DR: Analysis of the different duplicons involved in human genomic disorders identifies features that may predispose to recombination, including large size and high sequence identity between the recombining copies, putative recombination promoting features, and the presence of multiple genes/pseudogenes that may include genes expressed in germ cells.

TL;DR: ZNF127 and ZNF127AS are novel imprinted genes that may be associated with some of the clinical features of the polygenic Prader-Willi syndrome.

TL;DR: The identification of the ancestral gene ( HERC2) and a family of duplicated, truncated copies that comprise these low-copy repeats suggest that Herc2 is an important gene encoding a GEF involved in protein trafficking and degradation pathways in the cell.

TL;DR: The results establish that some genes not only have a protein coding function but can also play a structural role in the genome and provide significant insights into the structure of complex duplicons and into the evolutionary pathways of formation, dispersal, and genomic instability of duplicons.