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The genetic contribution to different aspects of empathy is now established, although the exact loci are unknown. We undertook a genome-wide association study of emotional empathy (EE) as measured by emotion recognition skills in 4,780 8-year old children from the ALSPAC cohort who were genotyped and imputed to Phase 1 version 3 of the 1000 Genomes Project. We failed to find any genome-wide significant signal in either our unstratified analysis or analysis stratified according to sex. A gene-based association analysis similarly failed to find any significant loci. In contrast, our transcriptome-wide association study (TWAS) with a whole blood reference panel identified two significant loci in the unstratified analysis, residualised for the effects of age, sex and IQ. One signal was for CD93 on chromosome 20; this gene is not strongly expressed in the brain, however. The other signal was for AL118508, a non-protein coding pseudogene, which completely lies within CD93's genomic coordinates, thereby explaining its signal. Neither are obvious candidates for involvement in the brain processes that underlie emotion recognition and its developmental pathways. [ABSTRACT FROM AUTHOR]

Significant evidence exists for the association between copy number variants (CNVs) and Autism Spectrum Disorder (ASD); however, most of this work has focused solely on the diagnosis of ASD. There is limited understanding of the impact of CNVs on the 'sub-phenotypes' of ASD. The objective of this paper is to evaluate associations between CNVs in differentially brain expressed (DBE) genes or genes previously implicated in ASD/intellectual disability (ASD/ID) and specific sub-phenotypes of ASD. The sample consisted of 1590 cases of European ancestry from the Autism Genome Project (AGP) with a diagnosis of an ASD and at least one rare CNV impacting any gene and a core set of phenotypic measures, including symptom severity, language impairments, seizures, gait disturbances, intelligence quotient (IQ) and adaptive function, as well as paternal and maternal age. Classification analyses using a non-parametric recursive partitioning method (random forests) were employed to define sets of phenotypic characteristics that best classify the CNV-defined groups. There was substantial variation in the classification accuracy of the two sets of genes. The best variables for classification were verbal IQ for the ASD/ID genes, paternal age at birth for the DBE genes and adaptive function for de novo CNVs. CNVs in the ASD/ID list were primarily associated with communication and language domains, whereas CNVs in DBE genes were related to broader manifestations of adaptive function. To our knowledge, this is the first study to examine the associations between sub-phenotypes and CNVs genome-wide in ASD. This work highlights the importance of examining the diverse sub-phenotypic manifestations of CNVs in ASD, including the specific features, comorbid conditions and clinical correlates of ASD that comprise underlying characteristics of the disorder. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented about the expression and mutation of candidate kinases in multiple myeloma.

The increased or inappropriate expression of genes with oncogenic properties through specific chromosome translocations is an important event in the pathogenesis of B-cell lymphoproliferative diseases. Recent studies have found deletions or translocations of chromosome 7q to be the most common cytogenetic abnormality observed in SLVL, a leukemic variant of SMZL, with the q21 – q22 region being most frequently affected. In three patients with translocations between chromosomes 2 and 7, the cloning of the breakpoints at 7q21 revealed that each was located within a small region of DNA 3.6 kb upstream of the transcription start site of cyclin dependent kinase 6 (CDK6). In each case the translocation event was consistent with aberrant VJ recombination between the immunoglobulin light chain region (Ig kappa) on chromosome 2p12 and DNA sequences at 7q21, resembling the heptamer recombination site. The t(7;21) breakpoint in an additional patient with splenic marginal zone lymphoma (SMZL), resided 66 kb telomeric to the t(2;7) breakpoints juxtaposing CDK6 to an uncharacterized transcript. In two of the SLVL patient samples, the CDK6 protein was found to be markedly over expressed. These results suggest that dysregulation of CDK6 gene expression contributes to the pathogenesis of SLVL and SMZL. [ABSTRACT FROM AUTHOR]

We have used polymerase chain reaction (PCR) amplification of tandem repeats to study the pattern of allelic loss on chromosome 7q31 in invasive epithelial ovarian carcinomas and borderline ovarian tumors. Using 13 primer sets spanning loci from 7q31 to 7q32, 16 borderline and 54 invasive ovarian tumor tissue, together with their corresponding normal tissue, were analysed. Invasive epithelial ovarian tumors demonstrated loss of heterozygosity (LOH) at one or more loci on 7q in 32 of 54 cases (59%). The invasive epithelial ovarian tumors demonstrated the highest percentage of LOH at the loci D7S643 (20 of 40 informative cases, 50%) and GATA44F09 (18 of 42 informative cases, 43%). In contrary, only one borderline ovarian tumor showed LOH at one locus (GATA44F09, one of 14 informative cases, 7%). Our results display a sharp contrast in the pattern of LOH between invasive and borderline ovarian tumors suggesting that allelic loss at chromosome 7q31.3 may be involved in the development and progression of invasive epithelial ovarian tumors but not borderline ovarian tumors. Further analysis of the deletion map for the invasive epithelial ovarian tumors showed two regions likely to harbor ovarian tumor suppressor genes including a novel 1300 kilobase common loss region flanked by GATA44F09 and D7S643. [ABSTRACT FROM AUTHOR]

A correction to the article "Expression and mutation status of candidate kinases in multiple myeloma" that was published in the May 2007 issue is presented.

Presents a correction to the article "A Previously Unidentified MECP2 Open Reading Frame Defines a New Protein Isoform Relevant to Rett Syndrome" that was published in a previous issue of the periodical "Nature Genetics."