BackgroundRhesus-positive and rhesus-negative persons differ in the presence-absence of highly immunogenic RhD protein on the erythrocyte membrane. This protein is a component of NH3 or CO2 pump whose physiological role is unknown. Several recent studies have shown that RhD positivity protects against effects of latent toxoplasmosis on motor performance and personality. It is not known, however, whether the RhD phenotype modifies exclusively the response of the body to toxoplasmosis or whether it also influences effects of other factors.Methodology/Principal FindingsIn the present cohort study, we searched for the effects of age and smoking on performance, intelligence, personality and self-estimated health and wellness in about 3800 draftees. We found that the positive effect of age on performance and intelligence was stronger in RhD-positive soldiers, while the negative effect of smoking on performance and intelligence was of similar size regardless of the RhD phenotype. The effect of age on four Cattell's personality factors, i.e., dominance (E), radicalism (Q1), self-sentiment integration (Q3), and ergic tension (Q4), and on Cloninger's factor reward dependency (RD) was stronger for RhD-negative than RhD-positive subjects, while the effect of smoking on the number of viral and bacterial diseases was about three times stronger for RhD-negative than RhD-positive subjects.ConclusionsRhD phenotype modulates the influence not only of latent toxoplasmosis, but also of at least two other potentially detrimental factors, age and smoking, on human behavior and physiology. The negative effect of smoking on health (estimated on the basis of the self-rated number of common viral and bacterial diseases in the past year) was much stronger in RhD-negative than RhD-positive subjects. It is critically needed to confirm the differences in health response to smoking between RhD-positive and RhD-negative subjects by objective medical examination in future studies.

Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort of 14 Czech cases with clinical features suggestive of KS was analyzed by experienced clinical geneticists in collaboration with other specialties, and observed disease features were evaluated according to the 'MLL2-Kabuki score' defined by Makrythanasis et al. Subsequently, the aforementioned genes were Sanger sequenced and copy number variation analysis was performed by MLPA, followed by genome-wide array CGH testing. Pathogenic variants in KMT2D resulting in protein truncation in 43% (6/14; of which 3 are novel) of all cases were detected, while analysis of KDM6A was negative. MLPA analysis was negative in all instances. One female patient bears a 6.6 Mb duplication of the Xp21.2-Xp21.3 region that is probably disease causing. Subjective KS phenotyping identified predictive clinical features associated with the presence of a pathogenic variant in KMT2D. We provide additional evidence that this scoring approach fosters prioritization of patients prior to KMT2D sequencing. We conclude that KMT2D sequencing followed by array CGH is a diagnostic strategy with the highest diagnostic yield.

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Animal body coloration is a complex trait resulting from the interplay of multiple mechanisms. While many studies address the functions of animal coloration, the mechanisms of colour production still remain unknown in most taxa. Here we compare reflectance spectra, cellular, ultra- and nano-structure of colour-producing elements, and pigment types in two freshwater turtles with contrasting courtship behaviour, Trachemys scripta and Pseudemys concinna . The two species differ in the distribution of pigment cell-types and in pigment diversity. We found xanthophores, melanocytes, abundant iridophores and dermal collagen fibres in stripes of both species. The yellow chin and forelimb stripes of both P. concinna and T. scripta contain xanthophores and iridophores, but the post-orbital regions of the two species differ in cell-type distribution. The yellow post-orbital region of P. concinna contains both xanthophores and iridophores, while T. scripta has only xanthophores in the yellow-red postorbital/zygomatic regions. Moreover, in both species, the xanthophores colouring the yellow-red skin contain carotenoids, pterins and riboflavin, but T. scripta has a higher diversity of pigments than P. concinna . Trachemys s. elegans is sexually dichromatic. Differences in the distribution of pigment cell types across body regions in the two species may be related to visual signalling but do not match predictions based on courtship position. Our results demonstrate that archelosaurs share some colour production mechanisms with amphibians and lepidosaurs (i.e. vertical layering/stacking of different pigment cell types and interplay of carotenoids and pterins), but also employ novel mechanisms (i.e. nano-organization of dermal collagen) shared with mammals.

21Animal body coloration is a complex trait resulting from the interplay of multiple colour-producing mechanisms. 22Increasing knowledge of the functional role of animal coloration stresses the need to study the proximate causes of 23 colour production. Here we present a description of colour and colour producing mechanisms in two non-avian 24 archelosaurs, the freshwater turtles Trachemys scripta and Pseudemys concinna. We compare reflectance spectra; 25 cellular, ultra-, and nano-structure of colour-producing elements; and carotenoid/pteridine derivatives contents in 26 the two species. In addition to xanthophores and melanocytes, we found abundant iridophores which may play a 27 role in integumental colour production. We also found abundant dermal collagen fibres that may serve as 28 thermoprotection but possibly also play role in colour production. The colour of yellow-red skin patches results from 29 an interplay between carotenoids and pteridine derivatives. The two species differ in the distribution of pigment cell 30 types along the dorsoventral head axis, as well as in the diversity of pigments involved in colour production, which 31 may be related to visual signalling. Our results indicate that archelosaurs share some colour production mechanisms 32 with amphibians and lepidosaurs, but also employ novel mechanisms based on the nano-organization of the 33 extracellular protein matrix that they share with mammals. 34 35 *Jindřich Brejcha 2 36 65 Turtles are an early-diverging clade of Archelosauria, the evolutionary lineage of tetrapods leading to 66 crocodiles and birds [22]. Although many turtles have a uniform dull colour, conspicuous striped and spotted 67 patterns are common in all major lineages of turtles (for a comprehensive collection of photographs see [23-26]).68 These conspicuous colour patterns may be present in the hard-horny skin of shells, and/or in the soft skin of the 69 head, limbs or tail. The dark areas of the skin of turtles may have a threefold origin consisting either of dermal, 70 epidermal, or both epidermal and dermal melanocytes. Colourful bright regions are thought to be the result of the 71 presence of xanthophores in the dermis [27] and their interplay with dermal melanophores [28]. Iridophores have 72 never been shown to play role in coloration of turtles [27,29]. 73Pigment-bearing xanthophores were first described in the dermis of the Chinese softshell turtle (Pelodiscus 74 sinensis) [29]. Xanthophores have also been found sporadically in the dermis of the spiny softshell turtle Apalone 75 spinifera, the Murray river turtle (Emydura macquarii) and in the painted turtle (Chrysemys picta) [27]. Such scarcity 76 3 of carotenoid/pteridine derivatives-containing cells is in contrast with chemical analyses of the yellow and red 77 regions of the integument of the red-eared slider (Trachemys scripta elegans) and C. picta [30,31]. Two major 78 classes of carotenoids have been described in the integument of these turtles: short wavelength absorbing 79 apocarotenoids and longer wave...