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Review human evolution genetics

Chiara Di Resta, Silvia Galbiati, Paola Carrera, Maurizio Ferrari
The rapid evolution and widespread use of next generation sequencing (NGS) in clinical laboratories has allowed an incredible progress in the genetic diagnostics of several inherited disorders. However, the new technologies have brought new challenges. In this review we consider the important issue of NGS data analysis, as well as the interpretation of unknown genetic variants and the management of the incidental findings. Moreover, we focus the attention on the new professional figure of bioinformatics and the new role of medical geneticists in clinical management of patients...
April 2018: EJIFCC
Maurizio Bruschi, Andrea Petretto, Augusto Vaglio, Laura Santucci, Giovanni Candiano, Gian Marco Ghiggeri
Annexin A1 is a protein with multifunctional roles in innate and adaptive immunity mainly devoted to the regulation of inflammatory cells and the resolution of inflammation. Most of the data regarding Annexin A1 roles in immunity derive from cell studies and from mice models lacking Annexin A1 for genetic manipulation (Annexin A1-/- ); only a few studies sought to define how Annexin A1 is involved in human diseases. High levels of anti-Annexin A1 autoantibodies have been reported in systemic lupus erythematosus (SLE), suggesting this protein is implicated in auto-immunity...
May 3, 2018: International Journal of Molecular Sciences
Adam P Roberts, Wiep Klaas Smits
Clostridium difficile is a major pathogen responsible for a range of diseases in humans and animals. The genetic tools used to explore C. difficile biology are a relatively recent development in comparison to those used to investigate some other pathogens. Consequently, a rapid and haphazard dispersal of strains throughout the scientific community has led to the evolution of different C. difficile lineages within strains in different geographical locations and these genotypic differences are likely to affect the phenotype of the organism...
April 27, 2018: Anaerobe
Jianzhen Li, Christopher H K Cheng
Gonadal development is precisely regulated by the two gonadotropins luteinizing hormone (LH) and follicle stimulating hormone (FSH). Much progress on understanding the functions of LH and FSH signaling on gonad development has been achieved in the past decades, mostly from studies in mammals especially genetic studies in both mouse and human. The functions of both LH and FSH signaling in non-mammalian species are still largely unknown. In recent years, using zebrafish, a teleost phylogenetically distant from mammals, we and others have genetically analyzed the functions of gonadotropins and their receptors through gene knockout studies...
April 26, 2018: Biology of Reproduction
Patrick M O'Grady, Rob DeSalle
Understanding phylogenetic relationships among taxa is key to designing and implementing comparative analyses. The genus Drosophila , which contains over 1600 species, is one of the most important model systems in the biological sciences. For over a century, one species in this group, Drosophila melanogaster , has been key to studies of animal development and genetics, genome organization and evolution, and human disease. As whole-genome sequencing becomes more cost-effective, there is increasing interest in other members of this morphologically, ecologically, and behaviorally diverse genus...
May 2018: Genetics
Charlotte Duranton, Florence Gaunet
Behavioral synchronization is evolutionary adaptive, fostering social cohesion. In humans, affiliation between partners is associated with a high level of behavioral synchronization; people show increased affiliation towards people who synchronize with them. Surprisingly, until recently, little was known about these phenomena at an interspecific level, which is, however, essential to better understand the respective roles of evolution and ontogeny. After presenting why dog-human dyads are a relevant biological model to study this field of social cognition, we review the recent findings about dog-human behavioral synchronization...
April 30, 2018: Learning & Behavior
Pontus Skoglund, Iain Mathieson
The first decade of ancient genomics has revolutionized the study of human prehistory and evolution. We review new insights based on prehistoric human genomes, including greatly increased resolution of the timing and structure of the out-of-Africa event, the diversification of present-day non- African populations, and the earliest expansions of those populations into Eurasia and America. Prehistoric genomes now document patterns of population transformation on every inhabited continent-in particular the effect of agricultural expansions in Africa, Europe, and Oceania-and record a history of natural selection that shapes present-day phenotypic diversity...
April 25, 2018: Annual Review of Genomics and Human Genetics
Dariusz Izak, Joanna Klim, Szymon Kaczanowski
Malaria remains one of the highest mortality infectious diseases. Malaria is caused by parasites from the genus Plasmodium. Most deaths are caused by infections involving Plasmodium falciparum, which has a complex life cycle. Malaria parasites are extremely well adapted for interactions with their host and their host's immune system and are able to suppress the human immune system, erase immunological memory and rapidly alter exposed antigens. Owing to this rapid evolution, parasites develop drug resistance and express novel forms of antigenic proteins that are not recognized by the host immune system...
April 25, 2018: Briefings in Functional Genomics
Denise S O'Keefe, Dean J Bacich, Steve S Huang, Warren D Heston
We will review the evolution of knowledge of the biology of Prostate-Specific Membrane Antigen (PSMA) and how the translation to therapy has also developed. The usual key to discovery is a realistic model for experimentation and hypothesis testing. This is especially true for the prostate where the human prostate differs significantly from that of other often used species for research models. We will emphasize the genetic characterization of PSMA, The nature of the PSMA protein and its role as a carboxypeptidase, with differing important substrates and products in different tissues...
April 19, 2018: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
Chloé Vigliotti, Cédric Bicep, Eric Bapteste, Philippe Lopez, Eduardo Corel
Understanding how an animal organism and its gut microbes form an integrated biological organization, known as a holobiont, is becoming a central issue in biological studies. Such an organization inevitably involves a complex web of transmission processes that occur on different scales in time and space, across microbes and hosts. Network-based models are introduced in this chapter to tackle aspects of this complexity and to better take into account vertical and horizontal dimensions of transmission. Two types of network-based models are presented, sequence similarity networks and bipartite graphs...
April 2018: Microbiology Spectrum
Julius Lukeš, Anzhelika Butenko, Hassan Hashimi, Dmitri A Maslov, Jan Votýpka, Vyacheslav Yurchenko
Trypanosomes and leishmanias are widely known parasites of humans. However, they are just two out of several phylogenetic lineages that constitute the family Trypanosomatidae. Although dixeny - the ability to infect two hosts - is a derived trait of vertebrate-infecting parasites, the majority of trypanosomatids are monoxenous. Like their common ancestor, the monoxenous Trypanosomatidae are mostly parasites or commensals of insects. This review covers recent advances in the study of insect trypanosomatids, highlighting their diversity as well as genetic, morphological and biochemical complexity, which, until recently, was underappreciated...
March 28, 2018: Trends in Parasitology
Donard S Dwyer
Endophenotypes and Research Domain Criteria (RDoC) represent recent efforts to deconvolute psychiatric illnesses into fundamental symptom clusters or biological markers more closely linked to genetic influences. By taking this one step farther, these biomarkers can be reduced to protophenotypes - endophenotypes conserved during evolution - with counterparts in lower organisms including Caenorhabditis elegans and Drosophila . Striking conservation in C. elegans of genes that increase the risk for mental illness bolsters the relevance of this model system for psychiatric research...
February 2018: Molecular Neuropsychiatry
Brian G O'Flynn, Aidan J Hawley, David J Merkler
Crop protection against destructive pests has been at the forefront of recent agricultural advancements. Rapid adaptive evolution has led to insects becoming immune to the chemicals employed to quell their damage. Insecticide resistance is a serious problem that negatively impacts food production, food storage, human health, and the environment. To make matters more complicated are the strict regulations in place on insecticide development, driven by rising public concern relating to the harmful effects these chemicals have on the environment and on society...
2018: Biochemistry & Molecular Biology Journal
Jana Amlerova, Ibrahim Bitar, Jaroslav Hrabak
Tuberculosis (TB) is considered one of the most serious infectious diseases worldwide. Effective control of tuberculosis infection involves multiple steps, such as reliable detection, treatment, an epidemiological control as a part of case management, and further surveillance and monitoring of TB spread in the human population. Due to the accelerating advances in molecular biology, especially in DNA sequencing, in the past decade, the application of these methods has become crucial for TB evolution studies, differentiation of Mycobacterium tuberculosis genotypes, and their distribution...
March 17, 2018: Folia Microbiologica
Melia E Bonomo, Michael W Deem
Clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated proteins (Cas) constitute a multi-functional, constantly evolving immune system in bacteria and archaea cells. A heritable, molecular memory is generated of phage, plasmids, or other mobile genetic elements that attempt to attack the cell. This memory is used to recognize and interfere with subsequent invasions from the same genetic elements. This versatile prokaryotic tool has also been used to advance applications in biotechnology...
April 30, 2018: Physical Biology
Katherine S Xue, Louise H Moncla, Trevor Bedford, Jesse D Bloom
The rapid global evolution of influenza virus begins with mutations that arise de novo in individual infections, but little is known about how evolution occurs within hosts. We review recent progress in understanding how and why influenza viruses evolve within human hosts. Advances in deep sequencing make it possible to measure within-host genetic diversity in both acute and chronic influenza infections. Factors like antigenic selection, antiviral treatment, tissue specificity, spatial structure, and multiplicity of infection may affect how influenza viruses evolve within human hosts...
March 10, 2018: Trends in Microbiology
João Luís Reis-Cunha, Hugo O Valdivia, Daniella Castanheira Bartholomeu
Trypanosomatids are a group of kinetoplastid parasites including some of great public health importance, causing debilitating and life-long lasting diseases that affect more than 24 million people worldwide. Among the trypanosomatids, Trypanosoma cruzi, Trypanosoma brucei and species from the Leishmania genus are the most well studied parasites, due to their high prevalence in human infections. These parasites have an extreme genomic and phenotypic variability, with a massive expansion in the copy number of species-specific multigene families enrolled in host-parasite interactions that mediate cellular invasion and immune evasion processes...
February 2018: Current Genomics
Chad L Yost, Lily J Jackson, Jeffery R Stone, Andrew S Cohen
The temporal proximity of the ∼74 ka Toba supereruption to a putative 100-50 ka human population bottleneck is the basis for the volcanic winter/weak Garden of Eden hypothesis, which states that the eruption caused a 6-year-long global volcanic winter and reduced the effective population of anatomically modern humans (AMH) to fewer than 10,000 individuals. To test this hypothesis, we sampled two cores collected from Lake Malawi with cryptotephra previously fingerprinted to the Toba supereruption. Phytolith and charcoal samples were continuously collected at ∼3-4 mm (∼8-9 yr) intervals above and below the Toba cryptotephra position, with no stratigraphic breaks...
March 2018: Journal of Human Evolution
Joseph H Collins, Eric M Young
Pharmaceutical production hosts may be derived from almost any organism, from Chinese Hamster Ovary (CHO) cell lines to isolated actinomycetes. Each host can be improved, historically only through adaptive evolution. Recently, the maturation of organism engineering has expanded the available models, methods, and tools for altering host phenotypes. New tools like CRISPR-associated endonucleases promise to enable precise cellular reprogramming and to access previously intractable hosts. In this review, we discuss the most recent advances in engineering several types of pharmaceutical production hosts...
February 19, 2018: Current Opinion in Biotechnology
Evariste Tshibangu Kabamba, Vo Phuoc Tuan, Yoshio Yamaoka
Helicobacter pylori is a bacterium that has infected more than half of the human population worldwide. This bacterium is closely associated with serious human diseases, such as gastric cancer, and identifying and understanding factors that predict bacterial virulence is a priority. In addition, this pathogen shows high genetic diversity and co-evolution with human hosts. H. pylori population genetics, therefore, has emerged as a tool to track human demographic history. As the number of genome sequences available is increasing, studies on the evolution and virulence of H...
June 2018: Infection, Genetics and Evolution
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