Search

The tricho-rhino-phalangeal syndrome type 1 is a rare genetic multisystem disease characterized by the triad as follows: sparse and slow-growing hair, pear-shaped nose and bones disorders. The syndrome is characterized by autosomal dominant inheritance with high penetrance and variable expressivity. Here is reported a patient showing the clinical features of the syndrome in order to alert the dermatologists to cases of early-onset androgenetic alopecia for possible diagnosis of genetic diseases. [ABSTRACT FROM AUTHOR]

Genetic variation at the αS1-casein locus (CSN1S1) is recognized as being crucial in the selection of dairy goats for cheese yield. At this locus, the existence of alleles that have strong, intermediate, weak, and null favorable effects on cheese yield and curd firmness is well known. Selection for alleles that have a strong favorable effect has been deliberately carried out, especially in France. In fact, the importance of αS1-casein in selection was recently confirmed in the selling policies of semen, where bucks are marketed according to their genotypes. We evaluated genotypes and alleles frequencies at the αS1-casein locus in 491 Italian Saanen and Alpine goats and compared them with previous data to investigate their evolution over the past decade. We also estimated soft cheese yield in a subset of the most represented genotypes to quantify the economic importance of considering the genetic trend of αS1-casein genotype frequencies. We found a significant increase in frequency of the allele with the strongest favorable effect, A (+12 and +13%), and of the intermediate allele E (+17 and +7%) in Saanen and Alpine goats, respectively. Surprisingly, the frequency of the strong allele B decreased strikingly over time (-12% in Saanen, -6% in Alpine from 2004 to 2012). This is consistent with the current marketing of semen, in that bucks that are homozygous for strong (AA and BB) and intermediate alleles (EE) and even heterozygous for these alleles (BE and AE) are considered equal. It is worth noting that this practice strongly penalizes the best breeders that have flocks composed almost entirely of goats that are homozygous for strong alleles. For heterozygous goats, we estimated an economic loss of €85 and €215 per goat per lactation, respectively, for AE and BE, compare with AA and BB genotypes. The marketing of buck semen should clearly differentiate these 2 alleles to ensure the best economic genetic progress at this locus. [ABSTRACT FROM AUTHOR]

In the past two centuries, breeding practices led to more than 400 modern dog breeds showing high genetic drift, small population size without admixing events, increased between-breeds differentiation and inbreeding depression. Inbreeding depression and reduced population sizes are major drawbacks of human-driven selection in the dog species. Therefore, increasing the breed genetic basis is extremely important for their welfare and biodiversity. The availability of efficient and affordable genomic techniques such as dense SNPs arrays, together with the effort of the scientific community, allowed the production of massive genomic data of purebred dogs (Parker et al., 2017,Talenti et al., 2018). However, the 75% of the 1 billion living dogs are free-ranging and breeding (Pilot et al., 2015), with largely unknown ancestry. Genomic tools could be useful in this, in improving welfare and possibly enlarging the genetic basis of small dog populations. In this study, we evaluate a combined approach to assign the ancestors of different admixed and purebred dogs, sampled by saliva swab following European rules and genotyped by the 230K SNP chip. We compared three admixed individuals with 183 breeds and populations, including wild canids and wolves from Talenti et al., 2018. A combination of ranked supervised admixture and haplotype sharing (Beagle 4,Browning & Browning, 2013), allowed us to guess the most likely populations of three different admixed dogs. Results diverged in the three cases. We confirmed the supposed ancestry of one dog, partially confirmed the second dog and defined the third dog as a true mongrel, with 5 different breeds found as top ancestry scores comparable in size and morphology. These results suggest usefulness of genomic metrics in define the make-up even for admixed dogs. The genomic era in this species reached the maturity and this information deserves to be included for a better management of single dog and breeds facing for example health and longevity challenges. [ABSTRACT FROM AUTHOR]

Linear Scleroderma en coup de Sabre (LSCS) and Parry Romberg Syndrome (PRS), subtypes of linear morphea (LM), may affect the scalp causing scarring alopecia (SA). 3 † For trichoscopic features: LSCS ( I n i = 25), PRS ( I n i = 5). 4 ‡ For histopathological findings: LSCS ( I n i = 15), PRS ( I n i = 3). According to the literature, LSCS usually presents with a linear patch of alopecia on the frontal scalp, whereas PRS, also known as progressive hemifacial atrophy, causes atrophy of the subcutaneous tissues with minimal overlying cutaneous changes.1 To date, data about LM are limited, especially involving the scalp. [Extracted from the article]

Contents The expression of six different aquaporins ( AQP1, 2, 3, 4, 5 and 9), integral membrane water channels that facilitate bi-directional passive movement of water, was investigated by immunohistochemistry in the uterine tube of pre-pubertal and adult Saanen goats (Capra hircus), comparing the different phases of the oestrous cycle. Regional morphology and secretory processes were markedly different during the goat oestrous cycle. The tested AQP molecules showed different expression patterns in comparison with already studied species. AQP1-immunoreactivity was evidenced at the endothelium of blood vessels and in nerve fibres, regardless of the tubal tract and cycle period. AQP4-immunoreactivity was shown on the lateral plasmalemma in the basal third of the epithelial cells at infundibulum and ampulla level in the cycling goats, more evidently during follicular than during luteal phase. No AQP4-immunoreactivity was noticed at the level of the isthmus region, regardless of the cycle phase. AQP5-immunoreactivity, localized at the apical surface of epithelial cells, increased from pre-puberty to adulthood. Thereafter, AQP5-immunoreactivity was prominent during the follicular phase, when it strongly decorated the apical plasmalemma of all epithelial cells at ampullary level. During luteal phase, immunoreactivity was discontinuous, being weak to strong at the apex of the secretory cells protruding into the lumen. In the isthmus region, the strongest AQP5-immunoreactivity was seen during follicular phase, with a clear localization in the apical plasmalemma of all the epithelial cells and also on the lateral plasmalemma. AQP2, 3 and 9 were undetectable all along the goat uterine tube. Likely, a collaboration of different AQP molecules sustains the fluid production in the goat uterine tube. AQP1-mediated transudation from the blood capillaries, together with permeation of the epithelium by AQP4 in the basal rim of the epithelial cells and final intervening of apical AQP5, could be involved in fluid production as well as in secretory processes. [ABSTRACT FROM AUTHOR]

Accurate pedigrees are essential to optimize genetic improvement and conservation of animal genetic resources. In goats, the use of mating groups and kidding management procedures hamper the identification of parentage. Small panels of single nucleotide polymorphisms (SNP) have been proposed in other species to substitute microsatellites for parentage assessment. Using data from the current GoatSNP50 chip, we developed a new 3-step procedure to identify a low-density SNP panel for highly accurate parentage assessment. Methodologies for SNP selection used in other species are less suitable in the goat because of uncertainties in the genome assembly. The procedure developed in this study is based on parent-offspring identification and on estimation of Mendelian errors, followed by canonical discriminant analysis identification and stepwise regression reduction. Starting from a reference sample of 109 Alpine goats with known pedigree relationships, we first identified a panel of 200 SNP that was further reduced to 2 final panels of 130 and 114 SNP with random coincidental match inclusion of 1.51 × 10-57 and 2.94 × 10-34, respectively. In our reference data set, all panels correctly identified all parent-offspring combinations, revealing a 40% pedigree error rate in the information provided by breeders. All reference trios were confirmed by official tests based on microsatellites. Panels were also tested on Saanen and Teramana breeds. Although the testing on a larger set of breeds in the reference population is still needed to validate these results, our findings suggest that our procedure could identify SNP panels for accurate parentage assessment in goats or in other species with unreliable marker positioning. [ABSTRACT FROM AUTHOR]

Spectra of the yrast and excited superdeformed bands, forming the E2 quasi-continuum, are measured with the EUROBALL array for the nucleus 143Eu, in coincidence with high-energy γ-rays (Eγ>3 MeV). It is found that the intensity population of the superdeformed states is enhanced by a factor of ≈1.6 when a coincidence with a γ-ray with energy >6 MeV is required, in reasonable agreement with the increase of the line shape of the Giant Dipole Resonance built on a superdeformed configuration. This result shows that when an high energy E1 γ-ray is involved in the decay it is more likely connected with a SD rather than a ND nucleus. In addition, the analysis of the rotational quasi-continuum suggests the presence of a superdeformed component. The data are also compared and found consistent with simulation calculations of the relative intensities of the SD states, including the E1 decay of superdeformed nature. [Copyright &y& Elsevier]

An abstract of the article "Beta-1 adrenoceptor gene polimorphism in heart failure: clinical and prognostic significance in female patients," by S. Nodari and colleagues is presented.

An abstract of the article "Beta-1 Adrenoceptor Gene Polimorphism in Heart Failure: Clinical and Prognostic Significance in Female Patients," by S. Nodari and colleagues is presented.