Jun Ishiwaras Text über Albert Einsteins Gastvortrag an der Universität zu Kyoto am 14. Dezember 1922

Ohne Zusammenfassung Vorgelegt von B. L. van der Waerden     

Genetics: relatedness among east African coelacanths

Coelacanths were discovered in the Comoros archipelago to the northwest of Madagascar in 1952. Since then, these rare, ancient fish have been found to the south off Mozambique, Madagascar and South Africa, and to the north off Kenya and Tanzania -- but it was unclear whether these are separate populations or even subspecies. Here we show that the genetic variation between individuals from these different locations is unexpectedly low. Combined with earlier results from submersible and oceanographic observations, our findings indicate that a separate African metapopulation is unlikely to have existed and that locations distant from the Comoros were probably inhabited relatively recently by either dead-end drifters or founders that originated in the Comoros.     

Revised rates for the stellar triple-alpha process from measurement of 12C nuclear resonances

In the centres of stars where the temperature is high enough, three alpha-particles (helium nuclei) are able to combine to form 12C because of a resonant reaction leading to a nuclear excited state. (Stars with masses greater than approximately 0.5 times that of the Sun will at some point in their lives have a central temperature high enough for this reaction to proceed.) Although the reaction rate is of critical significance for determining elemental abundances in the Universe, and for determining the size of the iron core of a star just before it goes supernova, it has hitherto been insufficiently determined. Here we report a measurement of the inverse process, where a 12C nucleus decays to three alpha-particles. We find a dominant resonance at an energy of approximately 11 MeV, but do not confirm the presence of a resonance at 9.1 MeV (ref. 3). We show that interference between two resonances has important effects on our measured spectrum. Using these data, we calculate the triple-alpha rate for temperatures from 10(7) K to 10(10) K and find significant deviations from the standard rates. Our rate below approximately 5 x 10(7) K is higher than the previous standard, implying that the critical amounts of carbon that catalysed hydrogen burning in the first stars are produced twice as fast as previously believed. At temperatures above 10(9) K, our rate is much less, which modifies predicted nucleosynthesis in supernovae.     

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

Autosomal dominant aplasia of lacrimal and salivary glands (ALSG; OMIM 180920 and OMIM 103420) is a rare condition characterized by irritable eyes and dryness of the mouth. We mapped ALSG to 5p13.2-5q13.1, which coincides with the gene fibroblast growth factor 10 (FGF10). In two extended pedigrees, we identified heterozygous mutations in FGF10 in all individuals with ALSG. Fgf10(+/-) mice have a phenotype similar to ALSG, providing a model for this disorder. We suggest that haploinsufficiency for FGF10 during a crucial stage of development results in ALSG.     

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome

Feingold syndrome is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, syndactyly and cardiac defect. We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome. All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and postnatal brain growth in humans are tightly regulated by MYCN dosage.     

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.     

Der Modellversuch am Tier in seiner Bedeutung für das Verständnis menschlicher Erbleiden

Summary The mutation of homologous genes can produce the same changes in phenotype in different mammals, animals as well as human beings. In this way the same hereditary disease can arise in man and animal. This fact permits the study of human hereditary diseases in model experiments in animals under conditions impossible to be realized in man. How far the parallelism between human beings and animals can be taken and where the limits of this parallelism are, which are the problems of the comparative heredo-pathology in detail, and how these problems may be attacked, is demonstrated here in numerous examples.

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Nach einem Vortrag in der Nederlandse Anthropogenetische Vereniging in Utrecht am 28. November 1953.     

When Research and Practice Collide: The Role of Action Research When There Is a Conflict of Interest with Stakeholders

This article discusses problematic aspects of the role of the action researcher when working with multiple stakeholders on a complex research project concerning regional development. The case presented here deals with the improvement of the regional innovation system in a small region in the south of Norway. The project resulted in a conflict between stakeholders and the action research (AR) team. We claim that when working in a regional context, the role of the action researcher is set to be a collaborator in a context of power play; the ultimate stakeholders must be defined as the citizens in that region. Therefore, in some situations the action researcher must have a legitimatised right to abandon collaboration and present a critical voice in the public deliberation. Strategic power play and strategic action by stakeholders represent a clear threat to the soft approach of collaboration, reflectivity, and democratic dialogue that AR represents. The ultimate challenge and obligation of the action researcher is to improve democracy in society in a long-term perspective through representing a critical capacity in the public deliberation.     

Efficient delivery of siRNA for inhibition of gene expression in postnatal mice

It has recently been shown that RNA interference can be induced in cultured mammalian cells by delivery of short interfering RNAs (siRNAs). Here we describe a method for efficient in vivo delivery of siRNAs to organs of postnatal mice and demonstrate effective and specific inhibition of transgene expression in a variety of organs.