GEO Logo
   NCBI > GEO > Accession DisplayHelp Not logged in | LoginHelp
GEO help: Mouse over screen elements for information.
Series GSE58308 Query DataSets for GSE58308
Status Public on Sep 22, 2014
Title Mice lacking DUF1220 protein domains are hyperactive  and show reduced fecundity
Organism Mus musculus
Experiment type Expression profiling by array
Summary 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 DUF1220 domain (the ancestral form) encoded in the mouse genome. While resulting DUF1220-minus (KO) mice show no obvious anatomical peculiarities, they exhibit a significantly reduced fecundity (χ2= 19.1, df = 2, p = 7.0 x 10-5). Further extensive phenotypic analyses suggest that DUF1220 KO mice are hyperactive (p < 0.05) relative to wild type litter mates. The linking of DUF1220 loss to a hyperactive phenotype is consistent with separate findings in which DUF1220 over expression results in a down-regulation of mitochondrial function, suggesting a possible role in the prolongation of developmental processes (neoteny) that is most pronounced in the human lineage.
Overall design Total RNA obtained from brain of 3 male homozygous Duf1220 ko and 4 male wildtype mice
Contributor(s) Beckers J, Horsch M
Citation missing Has this study been published? Please login to update or notify GEO.
Submission date Jun 09, 2014
Last update date Jun 14, 2018
Contact name Martin Irmler
Organization name Helmholtz Zentrum München GmbH
Department Institute of Experimental Genetics
Lab Gene Regulation & Epigenetics
Street address Ingolstaedter Landstrasse 1
City Neuherberg
State/province Bayern
ZIP/Postal code 85764
Country Germany
Platforms (1)
GPL6885 Illumina MouseRef-8 v2.0 expression beadchip
Samples (7)
GSM1406277 brain_wildtype_rep1
GSM1406278 brain_wildtype_rep2
GSM1406279 brain_wildtype_rep3
BioProject PRJNA251973

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE58308_Non-normalized_data.txt.gz 1.2 Mb (ftp)(http) TXT
GSE58308_RAW.tar 3.1 Mb (http)(custom) TAR
Raw data are available on Series record
Processed data included within Sample table

| NLM | NIH | GEO Help | Disclaimer | Accessibility |
NCBI Home NCBI Search NCBI SiteMap