Hereditas最新文献

The Enhancer of split complex [E(spl)-C] comprises twelve genes of different classes. Seven genes encode proteins of with a basic-helix-loop-helix-orange (bHLH-O) domain that function as transcriptional repressors and serve as effectors of the Notch signalling pathway. They have been named E(spl)m8-, m7-, m5-, m3-, mβ-, mγ- and mδ-HLH. Four genes, E(spl)m6-, m4-, m2- and mα-BFM are intermingled and encode Notch repressor proteins of the Bearded-family (BFM). The complex is split by a single gene of unrelated function, encoding a Kazal-type protease inhibitor (Kaz-m1). All members within a family, bHLH-O or BFM, are very similar in structure and in function. In an attempt to generate specific mutants, we have mobilised P-element constructs residing next to E(spl)m7-HLH and E(spl)mγ-HLH, respectively. The resulting deletions were mapped molecularly and by cytology. Two small deletions affected only E(spl)m7-HLH and E(spl)mδ. The deficient flies were viable without apparent phenotype. Larger deletions, generated also by X-ray mutagenesis, uncover most of the E(spl)-C. The phenotypes of homozygous deficient embryos were analysed to characterize the respective loss of Notch signalling activity.

GRM8 is a schizophrenia candidate gene that is also thought to be involved in the glutamate pathway, which is very important in the pathogenesis of schizophrenia. In this study, we aim to investigate the association between GRM8 and schizophrenia in the Uygur Chinese population.

Rs2237748 and rs2299472, located in the GRM8 gene, were selected for genotyping in a set of Uygur Chinese case-control samples, which included 723 cases and 561 controls, using TaqMan assays and capillary sequencing. The statistical analysis was carried out using the online software program SHEsis, and a meta-analysis was carried out to identify other relevant studies using Review Manager 5. We found that the rs2299472 genotype was significantly associated with schizophrenia (P = 0.015, P = 0.030, after Bonferroni correction). The frequency of the CC genotype was higher in the schizophrenic patients (P = 0.008), and the frequency of the AC genotype was lower (P = 0.008). Furthermore, the meta-analysis incorporating the previous and current studies also showed that rs2299472 is associated with schizophrenia. This study indicates that the GRM8 gene may play an important role in the pathogenesis of schizophrenia.

Notch signalling mediates intercellular communication, which is effected by the transcription factor CSL, an acronym for vertebrate CBF1/RBP-J, Drosophila Suppressor of Hairless [Su(H)] and C. elegans Lag1. Nuclear import of CBF1/RBP-J depends on co-activators and co-repressors, whereas the export relies on RITA. RITA is a tubulin and CBF1/RBP-J binding protein acting as a negative regulator of Notch signalling in vertebrates. RITA protein is highly conserved in eumatazoa, but no Drosophila homologue was yet identified. In this work, the activity of human RITA in the fly was addressed. To this end, we generated transgenic flies that allow a tissue specific induction of human RITA, which was demonstrated by Western blotting and in fly tissues. Unexpectedly, overexpression of RITA during fly development had little phenotypic consequences, even when overexpressed simultaneously with either Su(H) or the Notch antagonist Hairless. We demonstrate the in vivo binding of human RITA to Su(H) and to tubulin by co-immune precipitation. Moreover, RITA and tubulin co-localized to some degree in several Drosophila tissues. Overall our data show that human RITA, albeit binding to Drosophila Su(H) and tubulin, cannot influence the Notch signalling pathway in the fly, suggesting that a nuclear export mechanism of Su(H), if existent in Drosophila, does not depend on RITA.

Local varieties of leafy kales (Brassica oleracea L.) are grown in home gardens in Calabria and Sicily for self-consumption, in the same area where the wild relative Brassica rupestris Raf. also grows. With the use of AFLP markers, comparisons were made of the genetic diversity and population structure of ten wild and 22 cultivated populations, as well as of a hybrid population and of four commercial cultivars of different B. oleracea crops. The level of genetic diversity was higher in leafy kales than in wild populations and this diversity was mainly distributed within populations. Wild populations remained distinct from cultivated material. Additionally, most wild populations were distinctively isolated from each other. On the other hand, it was not possible to molecularly distinguish even geographically distant leafy kale populations from each other or from different B. oleracea crops. It was possible to detect inter-crossing between leafy kales and B. rupestris. Findings from this study illustrate the existing level of genetic diversity in the B. oleracea gene pool. Individual populations (either wild or leafy kales) with higher levels of genetic diversity have been identified and suggestions are given for an informed conservation strategy. Domestication hypotheses are also discussed.

Two papers published in HEREDITAS between 1921 and 1939 show how the attitude towards race biology changed in the course of the interwar period in the Nordic countries. In the early 1920s race biology was seen to constitute a legitimate science. Ordinary human genetics prevailed, however, over race biology already in the very beginning on the pages of HEREDITAS. Population thinking was introduced into the study of human heredity around the year 1930. It effectively contradicted the concept of the race. Interestingly, HEREDITAS does not carry a single paper on eugenics and sterilization. In 1939 we see a final repudiation of the doctrines on race. Times had changed and the National Socialists had usurped the doctrines of race in Germany.

In 1921 Hereditas published an article on the fall of Rome written by the famous classical scholar Martin P:son Nilsson. Why was a paper on this unexpected topic printed in the newly founded journal? To Nilsson, the demise of the Roman Empire was explained by the “bastardization” occurring between “races” from different parts of the realm. Offspring from mixed couples were of a less stable “type” than their parents, due to the breaking up by recombination of the original hereditary dispositions, which led to a general loss of competence to rule and govern. Thus, the “hardness” of human genes, together with their recombination, was – according to Nilsson – the main cause of the fall of Rome.

Nilsson's argument is not particularly convincingly presented. Human “races” are taken to have the same genetic structure as inbred crop strains, and Nilsson believes in a metaphysical unity between the individual and the race to which it belongs. However, in my view, Martin P:son Nilsson and his friend Herman Nilsson-Ehle had wider aims with the article than to explain a historical event. The article can be read as indicating strong support from the classical human sciences to the ambitious new science of genetics. Support is also transferred from genetics to the conservative worldview, where the immutability and inflexibility of the Mendelian genes are used to strengthen the wish for greater stability in politics and life. The strange article in Hereditas can, thus, be read as an early instance in the – still ongoing – tug-of-war between the conservative and the liberal ideological poles over how genetic results best are socially interpreted.

In this study part of the mitochondrial D-loop was sequenced in a total of 40 samples from nine Swedish local chicken breeds. Among our 40 samples we observed 15 segregating sites and seven different haplotypes. The most common haplotype was present in all investigated individuals in five breeds and together with other haplotypes in three breeds. This haplotype is common in domestic chickens and has been found in both local and commercial breeds in many parts of the world. The breed Ölandshöna was most different from the other Swedish breeds with all three individuals sharing a haplotype that differed from the most common haplotype at nine of the 15 segregating sites.

“Why do all good things always have to come to an end?” Nothing in this world stays the same, change is inevitable. This may sound a bit frustrating, but in fact it is not. Below, I will try to explain why.

Why did we decide to terminate the activities of Hereditas? To make a long story short: it is for economical reasons. At this stage, it is important to note that Hereditas depends on income based on fees from published articles. As far as the submissions and consequently the published papers were concerned, year 2013 was particularly bad and we ended up with a major deficit. And already in early 2014, we could foresee that the situation will likely not improve in 2014 and beyond. With this foreboding in mind, the Editorial Group talked to the owners of Hereditas, the Mendelian Society to propose to terminate the activities of the journal by the end of 2014, but with the task to keep access to the articles open and free to the whole world, even beyond 2014.

I wish remind the community that the Journal, already back in 2004/2005 was about to lay down arms. But then it was decided that the status of the journal should be changed to an “Open Access” one, a business plan that went unexpectedly well for some years, until the numbers of submission started to go down again, starting 2010. Notably in the last years, Hereditas faced a dramatic increase in newly formed and thus competing journals in the field of genetics. This is probably the main reason for the decrease in the number of incoming manuscripts. Another one could simply be a trend, meaning that time is over for Hereditas now and authors do not want to publish with Hereditas anymore, this possibly also for economical reasons.

As courtesy to the readers and to honor the past of Hereditas, this last edition is devoted to a series of reports, written by prominent Swedish geneticists, documenting how Hereditas was founded, its rise and history, and also commenting on some seminal articles which were published by Hereditas. Of course, this last issue also contains regular articles. In fact, when comparing back issues of Hereditas, this issue contains the most articles ever published within one issue.

For those who published with Hereditas in the past, let me say that your decision was a wise one: your article will remain visible as long as the Digital World is active, owing to its “Open Access” strategy of the Journal. And maybe the wisest decision was done back in 2005 to ensure that this will become possible. Another wise decision was done in 2011 when all back issues up to the first volume of 1920 were digitalized, which makes this journal rather unique because it offers all back issues up to 1920 free for all readers. Possibly, we can turn the opening sentence into something like this: “Good things will remain available, as long as the Digital World exists”.

I wish to thank the scientific community for all contributions and the numerous kind contacts I had in

MicroRNAs (miRNAs) are approximately 21 nt noncoding RNAs that influence the phenotypes of different species through the post-transcriptional regulation of gene expression. Although many miRNAs have been identified in a few model plants, less is known about miRNAs specific to cucumber (Cucumis sativus L.). In this study, two libraries of cucumber RNA, one based on fruit samples and another based on mixed samples from leaves, stems, and roots, were prepared for deep-sequencing. A total of 110 sequences were matched to known miRNAs in 47 families, while 56 sequences in 46 families are newly identified in cucumber. Of these, 77 known and 44 new miRNAs were differentially expressed, with a fold-change of at least 2 and p-value < 0.05. In addition, we predicted the potential targets of known and new miRNAs. The identification and characterization of known and new miRNAs will enable us to better understand the role of these miRNAs in the formation of cucumber fruit.

In 1928, the Swedish geneticists Hermann Nilsson-Ehle and Åke Gustafsson started on their suggestion experiments with induced mutations using the barley crop. In 1953, at the instigation of the Swedish Government, the ‘Group for Theoretical and Applied Mutation Research’ was established. Its aim was to study basic research problems in order to influence and improve methods for breeding cultivated plants. The research was non-commercial, even if some mutants were of practical importance. The peaks of activities occurred during the 1950s, 1960s and 1970s. Applying X-rays and UV-irradiation very soon the first chlorophyll mutations were obtained followed by the first viable mutations ‘Erectoides’. Soon the X-ray experiments expanded with other types of irradiation such as neutrons etc. and finally with chemical mutagens, starting with mustard gas and concluding with the sodium azide. The research brought a wealth of observations of general biological importance, high increased mutation frequencies, difference in the mutation spectrum and to direct mutagenesis for specific genes. A rather large collection of morphological and physiological mutations, about 12 000 different mutant alleles, with a very broad variation were collected and incorporated into the Nordic Genetic Resource Center (NordGen) Sweden. Barley, the main experimental crop has become one of the few higher plants in which biochemical genetics and molecular biological studies are now feasible. The collection is an outstanding material for mapping genes and investigating the barley genome. Several characters have been studied and analyzed in more detail and are presented in this historical review.