Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.

Autosomal dominant inheritance of a mild form of osteogenesis imperfecta (osteogenesis imperfecta type I) with different phenotypic expression was found in a family. Phenotypic expression was different for the affected mother and son, in the presence of the same biochemical results. Dermal fibroblast cultures synthesized normal and mutant type I collagen alpha chains. Collagen heterotrimers containing abnormal chains were overmodified along the entire triple helical domain and showed an unusually low denaturation temperature, so far found only in lethal cases. The mild phenotype in the family is probably due to the fact that abnormal type I collagen molecules are more likely to be degraded than utilized in the extracellular matrix

AKAP9 is essential for spermatogenesis and sertoli cell maturation in mice.

Mammalian male fertility relies on complex inter- and intracellular signaling during spermatogenesis. Here we describe three alleles of the widely expressed A-kinase anchoring protein 9 (Akap9) gene, all of which cause gametogenic failure and infertility in the absence of marked somatic phenotypes. Akap9 disruption does not affect spindle nucleation or progression of prophase I of meiosis but does inhibit maturation of Sertoli cells, which continue to express the immaturity markers anti-Mullerian hormone and thyroid hormone receptor alpha in adults and fail to express the maturation marker p27(Kip1). Furthermore, gap and tight junctions essential for blood-testis barrier (BTB) organization are disrupted. Connexin43 (Cx43) and zona occludens-1 are improperly localized in Akap9 mutant testes, and Cx43 fails to compartmentalize germ cells near the BTB. These results identify and support a novel reproductive tissue-specific role for Akap9 in the coordinated regulation of Sertoli cells in the testis. Genetics 2013 Jun; 194(2):447-57

Toward the genetics of mammalian reproduction: induction and mapping of gametogenesis mutants in mice.

The genetic control of mammalian gametogenesis is inadequately characterized because of a lack of mutations causing infertility. To further the discovery of genes required for mammalian gametogenesis, phenotype-driven screens were performed in mice using random chemical mutagenesis of whole animals and embryonic stem cells. Eleven initial mutations are reported here that affect proliferation of germ cells, meiosis, spermiogenesis, and spermiation. Nine of the mutations have been mapped genetically. These preliminary studies provide baselines for estimating the number of genes required for gametogenesis and offer guidance in conducting new genetic screens that will accelerate and optimize mutant discovery. This report demonstrates the efficacy and expediency of mutagenesis to identify new genes required for mammalian gamete development

How to create mixed offline-online community spaces? A behavioural science position paper

Humans are exceptionally social, irrespective whether they are online or offline, a trait that is present in every society, irrespective of cultural variation. Both urban planners and evolutionary anthropologist have long recognized that the more frequently we have meaningful social contact with the members of our social network, the closer we feel to them, and the stronger our communities end up. The received wisdom in sociology is that communities fall apart when members of the community get involved in the majority of their social life outside the group, a phenomenon that has been thought to automatically happen with the rise of new online sociality-servicing technologies. However, in internet- based social networking most online interaction is local, supplementing rather than replacing local off-line interaction. Furthermore, much of dyadic interaction online is essentially identical to its offline nature, despite the fact that the manifestation can radically differ. Yet, it is very difficult to generate lasting online communities which are truly online only. Online communities tend to be similar to offline hobby clubs in their structure, and in almost all cases that are to last, after a while the need emerges to meet off-line. In these occasions people usually choose to engage in natural group bonding activities that release endorphins and create social bond in a literally natural way. As a consequence, current day human societies are heading towards social existence in which they are neither entirely off-line, but nor are entirely online. An integrated design for urban and digital sociality space would allow the natural rise of healthy and robust human communities