Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

ABSTRACT:

Background

One of the defining moments of human life occurs early during embryonic development, when individuals sexually differentiate into either male or female. Perturbation of this process can lead to disorders/differences of sex development (DSD). Chromobox protein homolog 2 (CBX2) has two distinct isoforms, CBX2.1 and CBX2.2: the role of CBX2.1 in DSD has been previously established, yet to date the function of the smaller isoform CBX2.2 remains unknown.

Methods

The genomic DNA of two 46,XY DSD patients was analysed using whole exome sequencing. Furthermore, protein/DNA interaction studies were performed using DNA adenine methyltransferase identification (DamID) to identify putative binding partners of CBX2. Finally, in vitro functional studies were used to elucidate t

SUBMITTER: Sproll P 

PROVIDER: S-EPMC6160712 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature