Drosophila IRBP bZIP heterodimer binds P-element DNA and affects hybrid dysgenesis.

In Drosophila, P-element transposition causes mutagenesis and genome instability during hybrid dysgenesis. The P-element 31-bp terminal inverted repeats (TIRs) contain sequences essential for transposase cleavage and have been implicated in DNA repair via protein-DNA interactions with cellular proteins. The identity and function of these cellular proteins were unknown.

Functional assessment of a promoter polymorphism in S100B, a putative risk variant for bipolar disorder.

Calcium-binding protein S100B has been implicated in the pathology of bipolar affective disorder (BPAD) and schizophrenia (SZ). S100B protein levels are elevated in serum of patients with both disorders compared to controls. We previously reported genetic association of a SNP in the promoter of S100B, rs3788266, with a psychotic form of BPAD.

Allelic expression imbalance of the schizophrenia susceptibility gene CHI3L1: evidence of cis-acting variation and tissue specific regulation.

Objective: To identify cis-acting regulatory variants influencing the expression of the schizophrenia susceptibility gene chitinase 3-like 1 gene (CHI3L1) in human lymphoblasts and post-mortem brain tissue.

Methods: To investigate the role of cis-acting regulatory variants in controlling gene expression of CHI3L1 we quantified relative allelic abundance in individuals heterozygous for the transcribed polymorphism rs880633. Allelic quantification was performed using RNA derived from 45 individuals from the HapMap CEU panel and 41 postmortem brain samples.

European collaborative study of early-onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset.

Bipolar disorder has a genetic component, but the mode of inheritance remains unclear. A previous genome scan conducted in 70 European families led to detect eight regions linked to bipolar disease. Here, we present an investigation of whether the phenotypic heterogeneity of the disorder corresponds to genetic heterogeneity in these regions using additional markers and an extended sample of families.

Support for tryptophan hydroxylase-2 as a susceptibility gene for bipolar affective disorder.

Bipolar affective disorder (BPAD) is a highly inherited genetic disorder and may be caused in part by deficits in serotonergic neurotransmission. We investigated whether variants within the tryptophan hydroxylase-2 (TPH2) gene, which is required for the synthesis of serotonin (5-HT), are associated with susceptibility to developing BPAD. Thirteen single nucleotide polymorphisms (SNPs) within TPH2 were genotyped in a collection of 151 Irish BPAD type I trios and were tested for association using the transmission disequilibrium test.