scholarly journals Temperament gene inheritance

2019 ◽  
Author(s):  
Azer Israfil ◽  
Natiga Israfil
Keyword(s):  
X Chromosome ◽  
Gene Locus ◽  
Genetic Basis ◽  
Transmission Mode ◽  
Next Generation ◽  
Genetic Linkages ◽  
Inheritance Mode ◽  
Outward Migration ◽  
The Brain

This article is published in Elsevier Meta Gene in September 2020 https://doi.org/10.1016/j.mgene.2020.100728 A temperament gene and its inheritance mechanisms have never been academically addressed. In this study we have tried to explain a genetic basis of a temperament inheritance mode; temperament is regularly inherited by the son from the mother and by the daughter from the father. Such a transmission mode corresponds to the X chromosome-linked inheritance and indicates that a temperament gene locus is on the X chromosome. Here we show that most probable temperament gene candidate is the VAMP7 gene of Xq PAR; besides its role in neuritogenesis, a relationship was proposed between the outward migration mode of the VAMP7 mediated vesicles, the female paternal temperament allele preservation in the secondary oocyte/ovum, and its transmission to the next generation. We have eliminated 113 temperament gene candidates in the distal Xq region, due to their mRNA numbers, expression in the brain and ovary, accordance to our proposed inheritance mode of a silent temperament allele, and genetic linkages.

scholarly journals Next-generation microbiology: from comparative genomics to gene function

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Carolin M. Kobras ◽  
Andrew K. Fenton ◽  
Samuel K. Sheppard
Keyword(s):  
Data Science ◽  
Genetic Basis ◽  
Turning Point ◽  
Functional Genomic ◽  
Bacterial Cells ◽  
Next Generation ◽  
New Techniques ◽  
Molecular Microbiology ◽  
Genetic Complexity ◽  
Generation Sequencing

AbstractMicrobiology is at a turning point in its 120-year history. Widespread next-generation sequencing has revealed genetic complexity among bacteria that could hardly have been imagined by pioneers such as Pasteur, Escherich and Koch. This data cascade brings enormous potential to improve our understanding of individual bacterial cells and the genetic basis of phenotype variation. However, this revolution in data science cannot replace established microbiology practices, presenting the challenge of how to integrate these new techniques. Contrasting comparative and functional genomic approaches, we evoke molecular microbiology theory and established practice to present a conceptual framework and practical roadmap for next-generation microbiology.

scholarly journals Epistatic Control of Non-Mendelian Inheritance in Mouse Interspecific Crosses

Genetics ◽  
1996 ◽  
Vol 143 (4) ◽  
pp. 1739-1752 ◽  
Author(s):  
Xavier Montagutelli ◽  
Rowena Turner ◽  
Joseph H Nadeau
Keyword(s):  
X Chromosome ◽  
Genetic Basis ◽  
Mendelian Inheritance ◽  
The Other ◽  
Interspecific Crosses ◽  
Chromosome 2 ◽  
Mus Spretus ◽  
F1 Hybrid ◽  
Strong Deviation ◽  
Marker Loci

Abstract Strong deviation of allele frequencies from Mendelian inheritance favoring Mus spretus-derived alleles has been described previously for X-linked loci in four mouse interspecific crosses. We reanalyzed data for three of these crosses focusing on the location of the gene(s) controlling deviation on the X chromosome and the genetic basis for incomplete deviation. At least two loci control deviation on the X chromosome, one near Xist (the candidate gene controlling X inactivation) and the other more centromerically located. In all three crosses, strong epistasis was found between loci near Xist and marker loci on the central portion of chromosome 2. The mechanism for this deviation from Mendelian expectations is not yet known but it is probably based on lethality of embryos carrying particular combinations of alleles rather than true segregation distortion during oogenesis in F1 hybrid females.

scholarly journals Molecular evolutionary analysis of human primary microcephaly genes

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nashaiman Pervaiz ◽  
Hongen Kang ◽  
Yiming Bao ◽  
Amir Ali Abbasi
Keyword(s):  
Evolutionary History ◽  
Genetic Basis ◽  
Brain Size ◽  
Primate Species ◽  
Evolutionary Analysis ◽  
Australopithecus Afarensis ◽  
Primary Microcephaly ◽  
Modern Humans ◽  
History Of ◽  
The Brain

Abstract Background There has been a rapid increase in the brain size relative to body size during mammalian evolutionary history. In particular, the enlarged and globular brain is the most distinctive anatomical feature of modern humans that set us apart from other extinct and extant primate species. Genetic basis of large brain size in modern humans has largely remained enigmatic. Genes associated with the pathological reduction of brain size (primary microcephaly-MCPH) have the characteristics and functions to be considered ideal candidates to unravel the genetic basis of evolutionary enlargement of human brain size. For instance, the brain size of microcephaly patients is similar to the brain size of Pan troglodyte and the very early hominids like the Sahelanthropus tchadensis and Australopithecus afarensis. Results The present study investigates the molecular evolutionary history of subset of autosomal recessive primary microcephaly (MCPH) genes; CEP135, ZNF335, PHC1, SASS6, CDK6, MFSD2A, CIT, and KIF14 across 48 mammalian species. Codon based substitutions site analysis indicated that ZNF335, SASS6, CIT, and KIF14 have experienced positive selection in eutherian evolutionary history. Estimation of divergent selection pressure revealed that almost all of the MCPH genes analyzed in the present study have maintained their functions throughout the history of placental mammals. Contrary to our expectations, human-specific adoptive evolution was not detected for any of the MCPH genes analyzed in the present study. Conclusion Based on these data it can be inferred that protein-coding sequence of MCPH genes might not be the sole determinant of increase in relative brain size during primate evolutionary history.

scholarly journals A case report of SMARCA4/BRG1-deficient non-small cell lung cancer with a spindle cell component found by next-generation sequencing of a brain metastasis

2020 ◽  
Author(s):  
Hiroko Ikeda ◽  
Takashi Sone ◽  
Kazuo Kasahara ◽  
Satoko Nakada ◽  
Kaori Yoshimura ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Spindle Cell ◽  
Small Cell ◽  
Pathological Examination ◽  
Next Generation ◽  
Small Cell Lung ◽  
Immunohistochemical Examination ◽  
The Brain ◽  
Generation Sequencing

Abstract Background: Several studies of different cancers have revealed mutations in switch/sucrose non-fermenting (SWI/SNF) complex genes. Brahma-related gene 1 (BRG1), which is encoded by SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 (SMARCA4), is a member of this complex. SMARCA4/BRG-1-deficient non-small cell lung carcinoma (NSCLC) has been considered a subset of lung cancer that has distinct clinical, pathological, and molecular characteristics, which implies its relationship with SMARCA4/BRG1-deficient thoracic sarcoma. Case presentation: We experienced a case of SMARCA4/BRG1-deficient lung cancer in a 40-year-old female patient with a history of smoking. Magnetic resonance imaging revealed a large mass in the right lung apex with an extension to the extrapulmonary region and cerebral metastasis. Histological analysis showed poorly differentiated carcinoma with spindle cell components. She was diagnosed with NSCLC (stage IV) at that point. An EGFR mutation and ALK and ROS1 rearrangement were not detected, and then treated with chemoradiotherapy. Overall, the tumors were resistant to chemotherapy, and therefore, after 2 years, the brain tumor was excised for histological and molecular analysis. Histologically, the brain mass was an undifferentiated tumor with round cells and glandular components. The mutation in SMARCA4 in the brain specimen was identified by next-generation sequencing. Immunohistochemical examination revealed a complete loss of BRG1. SMARCA4/BRG1-deficient thoracic sarcoma had been raised as a differential diagnosis, collectively, she was diagnosed with SMARCA4/BRG1-deficient NSCLC considering for the result of positivity for cytokeratin AE1/AE3 and claudin-4, and negativity for Sal-like protein 4, CD34, and SRY-box 2 by immunohistochemical examination. Regrettably, a definitive diagnosis required approximately 2 years. She is alive with disease at 30 months after the presentation. Conclusions: The diagnosis of SMARCA4/BRG1-deficient NSCLC is frequently difficult because of no specific morphology and necessity of discrimination from SMARCA4/BRG1-deficient thoracic sarcoma, which is the practical reason this disease is sometimes missed. Immunohistochemistry for BRG1 should be encouraged for the pathological examination of NSCLC with any histology for the prompt and precise diagnosis of SMARCA4/BRG1-deficient NSCLC.

Special Issue: Evolutionary Design

1999 ◽  
Vol 13 (3) ◽  
pp. 143-143
Author(s):  
PETER BENTLEY
Keyword(s):  
Immune System ◽  
Design Process ◽  
Small Variation ◽  
Natural World ◽  
Evolutionary Design ◽  
Next Generation ◽  
Special Issue ◽  
Natural Evolution ◽  
Human Endeavor ◽  
The Brain

Throughout the natural world and our human-designed world, design and evolution seem to go hand-in-hand. Some of the most astonishing and complex designs known to humankind—the embryogeny process, the immune system, the brain, the very structure of DNA—are products of natural evolution, not human endeavor. In addition, the progress of our own designs seems evolutionary, as the best concepts from existing designs are combined with some small variation to produce the next generation of cars, computers, and indeed, most types of human design. And now, as the papers in this and subsequent special issues will show, our computers are allowing us to harness the power of evolution directly, to aid the design process.

THU0466 Unraveling the Genetic Basis of Familial SAPHO Syndrome with Next-Generation Sequencing

2014 ◽  
Vol 73 (Suppl 2) ◽  
pp. 344.3-344
Author(s):  
F.J. Del Castillo ◽  
T. Caniego ◽  
M. Hurtado-Nédélec ◽  
S. Chollet-Martín ◽  
E. Gόmez-Rosas ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Basis ◽  
Sapho Syndrome ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals The Loci of Behavioral Evolution: Evidence That Fas2 and tilB Underlie Differences in Pupation Site Choice Behavior between Drosophila melanogaster and D. simulans

2019 ◽  
Vol 37 (3) ◽  
pp. 864-880
Author(s):  
Alison Pischedda ◽  
Michael P Shahandeh ◽  
Thomas L Turner
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Related Species ◽  
Choice Behavior ◽  
Genetic Basis ◽  
Association Studies ◽  
Single Gene ◽  
Closely Related Species ◽  
Environmentally Sensitive ◽  
Pupation Site

Abstract The behaviors of closely related species can be remarkably different, and these differences have important ecological and evolutionary consequences. Although the recent boom in genotype–phenotype studies has led to a greater understanding of the genetic architecture and evolution of a variety of traits, studies identifying the genetic basis of behaviors are, comparatively, still lacking. This is likely because they are complex and environmentally sensitive phenotypes, making them difficult to measure reliably for association studies. The Drosophila species complex holds promise for addressing these challenges, as the behaviors of closely related species can be readily assayed in a common environment. Here, we investigate the genetic basis of an evolved behavioral difference, pupation site choice, between Drosophila melanogaster and D. simulans. In this study, we demonstrate a significant contribution of the X chromosome to the difference in pupation site choice behavior between these species. Using a panel of X-chromosome deficiencies, we screened the majority of the X chromosome for causal loci and identified two regions associated with this X-effect. We then collect gene disruption and RNAi data supporting a single gene that affects pupation behavior within each region: Fas2 and tilB. Finally, we show that differences in tilB expression correlate with the differences in pupation site choice behavior between species. This evidence associating two genes with differences in a complex, environmentally sensitive behavior represents the first step toward a functional and evolutionary understanding of this behavioral divergence.

scholarly journals Comparative Transcriptomics Reveals the Molecular Genetic Basis of Cave Adaptability in Sinocyclocheilus Fish Species

2020 ◽  
Vol 8 ◽  
Author(s):  
Yincheng Zhao ◽  
Hongyu Chen ◽  
Chunqing Li ◽  
Shanyuan Chen ◽  
Heng Xiao
Keyword(s):  
Genetic Basis ◽  
Molecular Genetic ◽  
Bioinformatic Analysis ◽  
Comparative Transcriptomics ◽  
Dietary Preferences ◽  
Molecular Genetic Basis ◽  
Surface Dwelling ◽  
The Brain ◽  
Survival Mechanisms ◽  
Cave Habitat

Cavefish evolved a series of distinct survival mechanisms for adaptation to cave habitat. Such mechanisms include loss of eyesight and pigmentation, sensitive sensory organs, unique dietary preferences, and predation behavior. Thus, it is of great interest to understand the mechanisms underlying these adaptability traits of troglobites. The teleost genus Sinocyclocheilus (Cypriniformes: Cyprinidae) is endemic to China and has more than 70 species reported (including over 30 cavefish species). High species diversity and diverse phenotypes make the Sinocyclocheilus as an outstanding model for studying speciation and adaptive evolution. In this study, we conducted a comparative transcriptomics study on the brain tissues of two Sinocyclocheilus species (surface-dwelling species – Sinocyclocheilus malacopterus and semi-cave-dwelling species – Sinocyclocheilus rhinocerous living in the same water body. A total of 425,188,768 clean reads were generated, which contributed to 102,839 Unigenes. Bioinformatic analysis revealed a total of 3,289 differentially expressed genes (DEGs) between two species Comparing to S. malacopterus, 2,598 and 691 DEGs were found to be respectively, down-regulated and up-regulated in S. rhinocerous. Furthermore, it is also found tens of DEGs related to cave adaptability such as insulin secretion regulation (MafA, MafB, MafK, BRSK, and CDK16) and troglomorphic traits formation (CEP290, nmnat1, coasy, and pqbp1) in the cave-dwelling S. rhinocerous. Interestingly, most of the DEGs were found to be down-regulated in cavefish species and this trend of DEGs expression was confirmed through qPCR experiments. This study would provide an appropriate genetic basis for future studies on the formation of troglomorphic traits and adaptability characters of troglobites, and improve our understanding of mechanisms of cave adaptation.

Wesley Kingston Whitten 1918 - 2010

2011 ◽  
Vol 22 (2) ◽  
pp. 291 ◽  
Author(s):  
J. N. Shelton ◽  
P. J. McCullagh
Keyword(s):  
Assisted Reproduction ◽  
X Chromosome ◽  
Genetic Basis ◽  
Vomeronasal Organ ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Mouse Strains ◽  
Recombinant Mouse ◽  
Mammalian Pheromones

Wesley Kingston Whitten (1918?2010) was recognized as one of Australia's most innovative biological scientists. His studies were the precursor of the science of preimplantation embryology and the technology of assisted reproduction. He pioneered the study of mammalian pheromones and their receptor, the vomeronasal organ. He elucidated the genetic basis of hermaphroditism and mosaicism, and the timing and mechanism of X chromosome inactivation. Several of his recombinant mouse strains continue to provide models for a number of diseases.

Sign in / Sign up

Export Citation Format

Share Document