A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q

We have rated eye color on a 3-point scale (1=blue/grey, 2=hazel/green, 3=brown) in 502 twin families and carried out a 5-10 cM genome scan (400-757 markers). We analyzed eye color as a threshold trait and performed multipoint sib pair linkage analysis using variance components analysis in Mx. A lod of 19.2 was found at the marker D15S1002, less than 1 cM from OCA2, which has been previously implicated in eye color variation. We estimate that 74% of variance in eye color liability is due to this QTL and a further 18% due to polygenic effects. However, a large shoulder on this peak suggests that other loci affecting eye color may be telomeric of OCA2 and inflating the QTL estimate. No other peaks reached genome-wide significance, although lods >2 were seen on 5p and 14q and lods >1 were additionally seen on chromosomes 2, 3, 6, 7, 8, 9, 17 and 18. Most of these secondary peaks were reduced or eliminated when we repeated the scan as a two locus analysis with the 15q linkage included, although this does not necessarily exclude them as false positives. We also estimated the interaction between the 15q QTL and the other marker locus but there was only minor evidence for additive x additive epistasis. Elaborating the analysis to the full two-locus model including non-additive main effects and interactions did not strengthen the evidence for epistasis. We conclude that most variation in eye color in Europeans is due to polymorphism in OCA2 but that there may be modifiers at several other loci.

Segregation distortion for seed testa color in mungbean (Vigna radiata L. Wilcek)

Genetic segregation experiments with plant species are commonly used for understanding the inheritance of traits. A basic assumption in these experiments is that each gamete developed from megasporogenesis has an equal chance of fusing with a gamete developed from microsporogenesis, and every zygote formed has an equal chance of survival. If gametic and/or zygotic selection occurs whereby certain gametes or zygotic combinations have a reduced chance of survival, progeny distributions are skewed and are said to exhibit segregation distortion. In this study, inheritance data are presented for the trait seed testa color segregating in large populations (more than 200 individuals) derived from closely related mungbean (Vigna radiata L. Wilcek) taxa. Segregation ratios suggested complex inheritance, including dominant and recessive epistasis. However, this genetic model was rejected in favor of a single-gene model based on evidence of segregation distortion provided by molecular marker data. The segregation distortion occurred after each generation of self-pollination from F-1 thru F-7 resulting in F-7 phenotypic frequencies of 151:56 instead of the expected 103.5:103.5. This study highlights the value of molecular markers for understanding the inheritance of a simply inherited trait influenced by segregation distortion.

The nomenclature of style: Brutalism, Minimalism, art history and visual style in architecture journals

The naming of styles or movements is a basic mechanism of the architectural journals. The announcement of new tendencies, groups or philosophies, gives a journal its character as ‘news’, and if such terms are taken up in general discourse this demonstrates the prescience of the editor and enhances the repute of the journal. The announcement of phenomenon such as ‘critical regionalism’ or ‘deconstructivism’ referred architectural developments to a context in socio-politics or philosophy, and thus aimed to provide at least an initial resistance to their understanding as the formal styles which they quickly became. A different strategy, or occasion, which this paper will discuss, is where the name of an architectural moment is given in the traditional form of an art historical style. Here the nomenclature of style and a certain attitude to form is introduced as the starting point for a more open ended critical inquiry. Two examples of this strategy will be given. The first is Peter Reyner Banham and the Architecture Review’s promotion of ‘Brutalism’ as an anti-aesthetic which took its conceptual form from early twentieth century art movements, particularly Futurism. The second, identified with Architectural Design in the 1990’s is ‘Minimalism’, a term describing a strand of the visual arts of the 1960’s which can be understood as an attempt to nuance and add seriousness to the present rampant nostalgia for the style of the architecture of the 1960’s.

Replicated linkage for eye color on 15q using comparative ratings of sibling pairs

The aim of the study was to perform a genetic linkage analysis for eye color, for comparative data. Similarity in eye color of mono- and dizygotic twins was rated by the twins' mother, their father and/or the twins themselves. For 4748 twin pairs the similarity in eye color was available on a three point scale (not at all alike-somewhat alike-completely alike), absolute eye color on individuals was not assessed. The probability that twins were alike for eye color was calculated as a weighted average of the different responses of all respondents on several different time points. The mean probability of being alike for eye color was 0.98 for MZ twins (2167 pairs), whereas the mean probability for DZ twins was 0.46 (2537 pairs), suggesting very high heritability for eye color. For 294 DZ twin pairs genome-wide marker data were available. The probability of being alike for eye color was regressed on the average amount of IBD sharing. We found a peak LOD-score of 2.9 at chromosome 15q, overlapping with the region recently implicated for absolute ratings of eye color in Australian twins [Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y. W., Hayward, N. K., Sturm, R. A., Trent, J. M., and Martin, N. G. (2004). Twin Res. 7:197-210] and containing the OCA2 gene, which is the major candidate gene for eye color [Sturm, R. A. Teasdale, R. D, and Box, N. F. (2001). Gene 277:49-62]. Our results demonstrate that comparative measures on relatives can be used in genetic linkage analysis.

Diffuse optical light in galaxy clusters. I. Abell 3888

We are undertaking a program to measure the characteristics of the intracluster light ( ICL; total flux, profile, color, and substructure) in a sample of 10 galaxy clusters with a range of cluster mass, morphology, and redshift. We present here the methods and results for the first cluster in that sample, A3888. We have identified an ICL component in A3888 in V and r that contains 13% +/- 5% of the total cluster light and extends to 700 h(70)(-1) kpc (similar to 0.3r(200)) from the center of the cluster. The ICL color in our smallest radial bin is V - r 0.3 +/- 0.1, similar to the central cluster elliptical galaxies. The ICL is redder than the galaxies at 400 h(70)(-1) kpc < r < 700 h(70)(-1) kpc, although the uncertainty in any one radial bin is high. Based on a comparison of V - r color with simple stellar models, the ICL contains a component that formed more than 7 Gyr ago ( at z less than 1) with a high-metallicity ( 1.0 Z(circle dot) < Z(ICL) less than or similar to 2.5 Z(circle dot)) and a more centralized component that contains stars formed within the past 5 Gyr ( at z similar to 1). The profile of the ICL can be roughly fitted by a shallow exponential in the outer regions and a steeper exponential in the central region. We also find a concentration of diffuse light around a small group of galaxies 1.4 h(70)(-1) Mpc from the center of the cluster. In addition, we find three low surface brightness features near the cluster center that are blue ( V - r 0.0) and contain a total flux of 0.1M*. Based on these observations and X-ray and galaxy morphology, we suggest that this cluster is entering a phase of significant merging of galaxy groups in the core, whereupon we expect the ICL fraction to grow significantly with the formation of a cD galaxy, as well as the infall of groups.

Architectural image and idiom: Making local

Using photographic images from South East Queensland mid-twentieth-century architecture, this essay investigates the translation and regeneration of modern themes into a local idiom that resonates with poetic qualities of pre-existent forms of inhabitation. It contributes to the discussion of the photograph's role in communicating meaning in architecture through its potential to "reveal" the idiomatic.

Traditional architecture in the Pacific

Architecture of the Pacific covers a region of more than third of the earth’s surface. The sparse Pacific population spreads over some 30 000 islands, which graduate in size from small atolls to the largest island, Australia, a continent. Pacific architecture can be studied as four cultural units: Micronesia, Polynesia, Melanesia, and Australasia (Australia and New Zealand). While many of the islands of Micronesia lie above the Equator, the remaining Pacific islands are in the southern hemisphere. With the exception of Australia, most of the islands have a warm and humid tropical climate with high rainfalls and lush vegetation. Some islands lie in the cyclonic and earthquake belts. Two distinct racial groups settled the region. The indigenous people, the Micronesians, Melanesians, Polynesians, Australian Aborigines and New Zealand Maoris, migrated from Asia thousands of years ago. The second group, the recent immigrants, were Europeans, who occupied the region during the last two centuries, and pockets of Asians brought in by colonial administrations as labourers during the early twentieth century.

Changes in three-dimensional architecture of microfilaments in cultured vascular smooth muscle cells during phenotypic modulation

To investigate changes in the three-dimensional microfilament architecture of vascular smooth muscle cells (SMC) during the process of phenotypic modulation, rabbit aortic SMCs cultured under different conditions and at different time points were either labelled with fluorescein-conjugated probes to cytoskeletal and contractile proteins for observation by confocal laser scanning microscopy, or extracted with Triton X-100 for scanning electron microscopy. Densely seeded SMCs in primary culture, which maintain a contractile phenotype, display prominent linear myofilament bundles (stress fibres) that are present throughout the cytoplasm with alpha-actin filaments predominant in the central part and beta-actin filaments in the periphery of the cell. Intermediate filaments form a meshed network interconnecting the stress fibres and linking directly to the nucleus. Moderately and sparsely seeded SMCs, which modulate toward the synthetic phenotype during the first 5 days of culture, undergo a gradual redistribution of intermediate filaments from the perinuclear region toward the peripheral cytoplasm and a partial disassembly of stress fibres in the central part of the upper cortex of the cytoplasm, with an obvious decrease in alpha-actin and myosin staining. These changes are reversed in moderately seeded SMCs by day 8 of culture when they have reached confluence. The results reveal two changes in microfilament architecture in SMCs as they undergo a change in phenotype: the redistribution of intermediate filaments probably due to an increase in synthetic organelles in the perinuclear area, and the partial disassembly of stress fibres which may reflect a degradation of contractile components.