The identification of human sequence polymorphisms that regulate gene expression is key to understanding human genetic diseases. We report a survey of human genes that demonstrate allelic differences in gene expression, reflecting the presence of putative allele-specific cis-acting factors of either genetic or epigenetic nature. The expression of allelic transcripts in heterozygous samples is assessed directly by relative quantitation of intragenic marker alleles in messenger or heteronuclear RNA derived from cells or tissues. This survey used 193 single-nucleotide polymorphisms (SNPs) from 129 genes expressed in lymphoblastoid cell lines, to identify 23 genes (18%) with common allele-specific transcripts whose expression deviated from the expected equimolar ratio. A subset of these deviations, or "allelic imbalances," can be observed in multiple samples derived from reference CEPH ("Centre d'Etude du Polymorphisme Humain") pedigrees and demonstrate a spectrum of patterns of transmission, including cosegregation of allelic skewing across generations compatible with Mendelian inheritance as well as random monoallelic expression for three genes (IL1A, HTR2A, and FGB). Additional studies for BTN3A2 provide evidence of SNPs and haplotypes in complete linkage disequilibrium with high- and low-expressing transcripts. The pipeline described herein offers tools for efficient identification and characterization of allelic expression allowing identification of regulatory sequence variants as well as epigenetic variation affecting human gene expression.

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This article emphasises the importance of psychology for the study and mitigation of sustainability issues. Over the past 20 years, a number of special issues on human behaviour and the environment have emerged in the literature, characterising the breadth of environmental problems and their consequences for our quality of life. The articles in this special section focus on psychology's role in interdisciplinary approaches to sustainability, with special attention given to the interdependency of environmental and human health. In this article, the authors summarise the main points of each of these contributions. In addition, they suggest tangible ways in which psychologists can meaningfully contribute to the environmental cause as individuals, practitioners, teachers, researchers, and administrators. Finally, the authors highlight future directions for research and practice in environmental psychology.

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