Comparative analysis of inbreeding parameters and runs of homozygosity islands in 2 Italian autochthonous cattle breeds mainly raised in the Parmigiano-Reggiano cheese production region

Reggiana and Modenese are autochthonous cattle breeds, reared in the North of Italy, that can be mainly distinguished for their standard coat color (Reggiana is red, whereas Modenese is white with some pale gray shades). Almost all milk produced by these breeds is transformed into 2 mono-breed branded Parmigiano-Reggiano cheeses, from which farmers receive the economic incomes needed for the sustainable conservation of these animal genetic resources. After the setting up of their herd books in 1960s, these breeds experienced a strong reduction in the population size that was subsequently reverted starting in the 1990s (Reggiana) or more recently (Modenese) reaching at present a total of about 2,800 and 500 registered cows, respectively. Due to the small population size of these breeds, inbreeding is a very important cause of concern for their conservation programs. Inbreeding is traditionally estimated using pedigree data, which are summarized in an inbreeding coefficient calculated at the individual level (F_PED). However, incompleteness of pedigree information and registration errors can affect the effectiveness of conservation strategies. High-throughput SNP genotyping platforms allow investigation of inbreeding using genome information that can overcome the limits of pedigree data. Several approaches have been proposed to estimate genomic inbreeding, with the use of runs of homozygosity (ROH) considered to be the more appropriate. In this study, several pedigree and genomic inbreeding parameters, calculated using the whole herd book populations or considering genotyping information (GeneSeek GGP Bovine 150K) from 1,684 Reggiana cattle and 323 Modenese cattle, were compared. Average inbreeding values per year were used to calculate effective population size. Reggiana breed had generally lower genomic inbreeding values than Modenese breed. The low correlation between pedigree-based and genomic-based parameters (ranging from 0.187 to 0.195 and 0.319 to 0.323 in the Reggiana and Modenese breeds, respectively) reflected the common problems of local populations in which pedigree records are not complete. The high proportion of short ROH over the total number of ROH indicates no major recent inbreeding events in both breeds. ROH islands spread over the genome of the 2 breeds (15 in Reggiana and 14 in Modenese) identified several signatures of selection. Some of these included genes affecting milk production traits, stature, body conformation traits (with a main ROH island in both breeds on BTA6 containing the ABCG2, NCAPG, and LCORL genes) and coat color (on BTA13 in Modenese containing the ASIP gene). In conclusion, this work provides an extensive comparative analysis of pedigree and genomic inbreeding parameters and relevant genomic information that will be useful in the conservation strategies of these 2 iconic local cattle breeds.     

A Novel LRRK2 Variant p.G2294R in the WD40 Domain Identified in Familial Parkinson’s Disease Affects LRRK2 Protein Levels

Leucine-rich repeat kinase 2 (LRRK2) is a major causative gene of late-onset familial Parkinson’s disease (PD). The suppression of kinase activity is believed to confer neuroprotection, as most pathogenic variants of LRRK2 associated with PD exhibit increased kinase activity. We herein report a novel LRRK2 variant—p.G2294R—located in the WD40 domain, detected through targeted gene-panel screening in a patient with familial PD. The proband showed late-onset Parkinsonism with dysautonomia and a good response to levodopa, without cognitive decline or psychosis. Cultured cell experiments revealed that p.G2294R is highly destabilized at the protein level. The LRRK2 p.G2294R protein expression was upregulated in the patient’s peripheral blood lymphocytes. However, macrophages differentiated from the same peripheral blood showed decreased LRRK2 protein levels. Moreover, our experiment indicated reduced phagocytic activity in the pathogenic yeasts and α-synuclein fibrils. This PD case presents an example wherein the decrease in LRRK2 activity did not act in a neuroprotective manner. Further investigations are needed in order to elucidate the relationship between LRRK2 expression in the central nervous system and the pathogenesis caused by altered LRRK2 activity.     

A Genetic Dissociation of Learning and Recall in Caenorhabditis elegans.

A learning event can be dissociated into 3 components: acquisition, storage, and recall. When the laboratory wild-type strain of Caenorhabditis elegans (N2 strain) is exposed to benzaldehyde in the absence of food, the worms display a reduction of their attractive response to this volatile odorant. This results from the association between benzaldehyde and a nutrient-deficient environment. Another wild-type isolate, the CB4856 strain, fails to display this decreased response to benzaldehyde after exposure to benzaldehyde in the absence of food. However, like the N2 strain, when tested to isoamyl alcohol after benzaldehyde conditioning, the CB4856 strain displays a decreased isoamyl alcohol response. Therefore, the CB4856 strain does not have an acquisition deficit, but it suffers from a recall deficit specific to benzaldehyde. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The Importance of Shared Environment in Infant-Father Attachment: A Behavioral Genetic Study of the Attachment Q-Sort.

In this first behavior genetic study on infant-father attachment, we estimated genetic and environmental influences on infant-father attachment behaviors and on temperamental dependency, both assessed with the Attachment Q-Sort (AQS; B. E.Vaughn & E. Waters, 1990; E. Waters, 1995). Mothers of mono- and dizygotic twins (N = 56 pairs) sorted the AQS with a focus on the infant's behaviors in the presence of the father. Genetic modeling showed that attachment was largely explained by shared environmental (59%) and unique environmental (41%) factors. For dependency, genetic factors explained 66% of the variance, and unique environmental factors including measurement error explained 34%. Attachment to father appears to be, to a significant degree, a function of the environment that twins share. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Biologically active secondary metabolites of barley. IV. Hordenine production by different barley lines

Forty-three lines of barley, including ancestral (wild), landraces, Middle Eastern lines, and modern cultivars, were grown under two different sets of environmental conditions. Hordenine production in barley roots was determined at the one-leaf stage by HPLC analysis and, in two lines only, over a period of 35 days. Forty-two of the 43 lines produced significant amounts of hordenine, although there was no variation among groups. Middle Eastern lines had the highest production with 327 µg/g on a dry weight basis. Production was, however, determined more by environmental conditions during growth than by genetic factors. Hordenine production was up to seven times higher in plants grown under lower light intensities.     

Fictions and Facts About Evolutionary Approaches to Human Behavior: Comment on Lickliter and Honeycutt (2003).

Six misconceptions about evolutionary approaches to human behavior are exposed. Evidence is adduced to support the assertions that evolutionary approaches do not (a) adopt a reductionistic "gene-centered" level of analysis, (b) assume that natural selection is the only process that creates and designs ontogenetic processes and phenotypic outcomes, (c) assume that genes are the only agents responsible for the transgenerational inheritance of phenotypic traits and characteristics, (d) assume that genes are self-contained and impervious to extragenetic influences, (e) posit a strong form of genetic determinism, or (f) pay lip service to the role of the environment. Building straw men and knocking them down is an inherently destructive enterprise; integrating different approaches is a more constructive way of contributing to the growth of knowledge. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Genetic Architecture and Molecular,Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art,Opportunities and Challenges

Dementia with Lewy bodies (DLB) is one of the most common causes of dementia and belongs to the group of α-synucleinopathies. Due to its clinical overlap with other neurodegenerative disorders and its high clinical heterogeneity, the clinical differential diagnosis of DLB from other similar disorders is often difficult and it is frequently underdiagnosed. Moreover, its genetic etiology has been studied only recently due to the unavailability of large cohorts with a certain diagnosis and shows genetic heterogeneity with a rare contribution of pathogenic mutations and relatively common risk factors. The rapid increase in the reported cases of DLB highlights the need for an easy, efficient and accurate diagnosis of the disease in its initial stages in order to halt or delay the progression. The currently used diagnostic methods proposed by the International DLB consortium rely on a list of criteria that comprises both clinical observations and the use of biomarkers. Herein, we summarize the up-to-now reported knowledge on the genetic architecture of DLB and discuss the use of prodromal biomarkers as well as recent promising candidates from alternative body fluids and new imaging techniques.     

Genes, Race, and Psychology in the Genome Era: An Introduction.

The mapping of the human genome has reawakened interest in the topic of race and genetics, especially the use of genetic technology to examine racial differences in complex outcomes such as health and intelligence. Advances in genomic research challenge psychology to address the myriad conceptual, methodological, and analytical issues associated with research on genetics and race. In addition, the field needs to understand the numerous social, ethical, legal, clinical, and policy implications of research in this arena. Addressing these issues should not only benefit psychology but could also serve to guide such thought in other fields, including molecular biology. The purpose of this special issue is to begin a discussion of this issue of race and genetics within the field of psychology. Several scholars who work in the fields of genetics, race, or related areas were invited to write (or had previously submitted) articles sharing their perspectives. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Genetic Correlational Analyses of Ethanol Reward and Aversion Phenotypes in Short-Term Selected Mouse Lines Bred for Ethanol Drinking or Ethanol-Induced Conditioned Taste Aversion.

Short-term selective breeding created mouse lines divergent for ethanol drinking (high drinking short-term selected line [STDRHI], low drinking [STDRLO]) or ethanol-induced conditioned taste aversion (CTA; high [HTA], low [LTA]). Compared with STDRLO, STDRHI mice consumed more saccharin and less quinine, exhibited greater ethanol-induced conditioned place preference (CPP), and showed reduced ethanol stimulation and sensitization under some conditions; a line difference in ethanol-induced CTA was not consistently found. Compared with LTA, HTA mice consumed less ethanol but were similar in saccharin consumption, sensitivity to ethanol-induced CPP, and ethanol-induced locomotor stimulation and sensitization. These data suggest that ethanol drinking is genetically associated with several reward-and aversion-related traits. The interpretation of ethanol-induced CTA as more genetically distinct must be tempered by the inability to test the CTA lines beyond Selection Generation 2. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Executive Self, Self-Esteem, and Negative Affectivity: Relations at the Phenotypic and Genotypic Level.

Complementary approaches examined the relations among executive self, self-esteem, and negative affectivity. A cross-sectional (N = 4,242) and a longitudinal (N = 158) study established that self-esteem mediated the relation between executive self and negative affectivity. A 3rd study (N = 878 twin pairs) replicated this pattern and examined genetic and environmental influences underlying all 3 phenotypes. Covariation among the 3 phenotypes reflected largely common genetic influences, although unique genetic effects explained variability in both executive self and negative affectivity. Executive self was influenced by shared environmental influences unique from those affecting self-esteem and negative affectivity. Nonshared environmental influences accounted for the majority of variance in each construct and were primarily unique to each. The unique genetic and nonshared environmental influences support the proposition that the executive self, self-esteem, and negative affectivity capture distinct and important differences between people. (PsycINFO Database Record (c) 2010 APA, all rights reserved)