Generation of mice lacking DUF1220 protein domains: effects on fecundity and hyperactivity.

ABSTRACT: Sequences encoding DUF1220 protein domains show the most extreme human lineage-specific copy number increase of any coding region in the genome and have been linked to human brain evolution. In addition, DUF1220 copy number (dosage) has been implicated in influencing brain size within the human species, both in normal populations and in individuals associated with brain size pathologies (1q21-associated microcephaly and macrocephaly). More recently, increasing dosage of a subtype of DUF1220 has been linked with increasing severity of the primary symptoms of autism. Despite these intriguing associations, a function for these domains has not been described. As a first step in addressing this question, we have developed the first transgenic model of DUF1220 function by removing the single DUF

SUBMITTER: Keeney JG 

PROVIDER: S-EPMC4305498 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature