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Results for “Intersectional genetics”

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At least 73 records · Page 4Linked to original sources
PubMed2003

Body composition in aging: a biological perspective.

PURPOSE OF REVIEW: Changes in body composition accompany and predict medical and surgical risk; interventions may be considered. Aging affects body composition, particularly in reduction of the body cell mass. RECENT FINDINGS: The molecular biology of aging has become an active frontier of research in the past 30 years, with acceleration in the past decade. A review of the toxicities of reactive oxygen and nitrogen species, especially at the mitochondria, can now be studied at the molecular, genetic, and proteomic scales, in individual cell components and systems, with major implications for patient management, for planning therapeutic interventions, and for predicting future age spans. SUMMARY: The intersections between the clinical fields of endocrinology, nuclear medicine/radiology, and geriatrics, with the more fundamental fields of physiology, molecular biology, genetics, and proteomics are indicated.

Aged↗
PubMed2005

Comparing the human and chimpanzee genomes: searching for needles in a haystack.

The chimpanzee genome sequence is a long-awaited milestone, providing opportunities to explore primate evolution and genetic contributions to human physiology and disease. Humans and chimpanzees shared a common ancestor approximately 5-7 million years ago (Mya). The difference between the two genomes is actually not approximately 1%, but approximately 4%--comprising approximately 35 million single nucleotide differences and approximately 90 Mb of insertions and deletions. The challenge is to identify the many evolutionarily, physiologically, and biomedically important differences scattered throughout these genomes while integrating these data with emerging knowledge about the corresponding "phenomes" and the relevant environmental influences. It is logical to tackle the genetic aspects via both genome-wide analyses and candidate gene studies. Genome-wide surveys could eliminate the majority of genomic sequence differences from consideration, while simultaneously identifying potential targets of opportunity. Meanwhile, candidate gene approaches can be based on such genomic surveys, on genes that may contribute to known differences in phenotypes or disease incidence/severity, or on mutations in the human population that impact unique aspects of the human condition. These two approaches will intersect at many levels and should be considered complementary. We also cite some known genetic differences between humans and great apes, realizing that these likely represent only the tip of the iceberg.

Animals↗
PubMed1983

The genetics of hormonal influences on male sexual behavior of mice and rats.

This review focuses on the intersection of genes and hormones as they relate to the development of male sexual behavior. Three major hypotheses are discussed: (1) Some differences in adult male sexual behavior are due to gene differences that influence brain differentiation. Genes that influence brain differentiation may do so by affecting the elaboration of testosterone (i.e., H-Y antigen) or the sensitivity to testosterone (i.e., Tfm mutation and autosomal variations) during neonatal and/or prenatal life. (2) Some differences in male sexual behavior are due to gene differences that influence adult levels of testosterone or sensitivity to testosterone and its metabolites. (3) There is a gene(s) on the Y chromosome that influences the development of sexual behavior that is associated with the arousal mechanism. A possible hormonal mechanism of this Y chromosomal gene(s) is discussed.

Androgen-Insensitivity Syndrome↗
PubMed2006

Coherent control approaches to light guidance in the nanoscale.

Concepts of coherent control are extended to manipulate light in subdiffraction length scales via nanoparticle arrays. Phase and polarization control are first introduced and applied to control the pathway of electromagnetic energy through multiple branching nanoarray intersections, leading to an ultrafast optical nanoswitch below the diffraction limit. The genetic algorithm is next generalized to provide a systematic design tool, wherein both the properties of the excitation field and the structural parameters of the material system are optimized so as to make nanodevices with desired functionality. The scheme is used to gain insight into the interplay between the interactions that underlies the coherent propagation of electromagnetic energy via nanoparticle arrays. Implications to several research fields, including single molecule spectroscopy, spatially confined chemistry, optical logic, and nanoscale sensing, are envisioned.

Journal Article↗
PubMed1991

Longitudinal Gompertzian analysis of prostate cancer mortality in the U.S., 1962-1987: a method of demonstrating relative environmental, genetic and competitive influences upon mortality.

Age-specific mortality rates for prostate cancer (PC) in the United States from 1962 to 1987 were subjected to longitudinal Gompertzian analysis. Age-specific PC mortality rate distributions between age 55 and 85 years were determined by a variable competitive factor and a common intersect point. The intersect point for PC occurred at age 61.5 years and mortality rate 27.9 per 100,000 and reflects genetic and environmental influences upon mortality. Between 1962 and 1987, non-age-standardized annual crude PC mortality rates increased 41.6%. Longitudinal Gompertzian analysis suggests that rising PC mortality rates in the United States are the natural consequence of competitive deterministic mortality dynamics. Moreover, longitudinal Gompertzian analysis is a method that demonstrates the relative contribution of environmental, genetic and competitive influences upon disease specific mortality.

Age Factors↗
PubMed2004

Pedophilia: neuropsychological evidence encouraging a brain network perspective.

Although the vast majority of current pathogenetic theories support a neurobiological understanding of psychiatric disorders, the brain functional correlates of pedophilia are largely unknown. Based on prior behavior genetics research on human sexual orientation and phenomenology as well as the phenotypical intersection of pedophilia with other psychiatric spectrum disorders, we hypothesize the involvement of striato-thalamo-cortical processing loops in the formation of pedophilic urges and behaviors. Data from a current neuropsychological pilot study in four pedophiles encourage our brain functional perspective. As deduced from the network model, all four patients exhibited pronounced and circumscribed deficits in cognitive domains mediated by striato-thalamically controlled areas of the frontal cortex. All patients were especially impaired in neuropsychological functions associated with the prefrontal and motor processing loops (e.g., response inhibition, working memory and cognitive flexibility), with a performance level located up to five standard deviations below the normative data. Contrary to this, neuropsychological performances in cognitive domains without a comparable high frontal loading were in all participants unobtrusive. In future, studying gene by environment interactions in combination with functional neuroimaging and neuropsychological assessment is promising to elucidate the pathophysiological relationship of psychiatric disorders that are characterized by inadequate urges and poor behavioral inhibition.

Adult↗
PubMed1993

Surveying the intersection: pathology, secrecy, and the discourses of racial and sexual identity.

"Surveying the Intersection: Pathology, Secrecy, and the Discourses of Racial and Sexual Identity" cautions against the risks of metaphorical imperialism in readings of codified gay and lesbian representation. Taking issue with Foucault's suggestion that the secret of the nineteenth century was the secret of sex, I suggest that, in nineteenth-century American culture, where African-American identity and equality were among the most controversial issues of the century, the secrets of identity were secrets of race as well. Because scientific and literary representations of pathological and/or secret, essential identities are sites of intersection in the discourses of homosexual and mixed-race identity, they should be investigated as intersections, rather than read as codifications of sexual difference. Surveying the discourses of scientific racism, genetics, and eugenics, and doing readings of Frances E. W. Harper's Iola Leroy and Alice Dunbar-Nelson's "The Stones of the Village," I suggest that Harper's representation of the mulatto leader can be read as an act of resistance to the representation of the mulatto as a degenerate, hybrid species; and that in Dunbar-Nelson's story, the thematics of passing, secrecy, and the fear of detection, while having a recognizably homoerotic quality, should not be read simply as a codification of homosexual difference and panic. I conclude with a call for more work on historicizing the intersection of racial and sexual identity in the discourses of pathology and degeneration.

Black or African American↗
PubMed1999

Interactions and intersections of plant signaling pathways.

Plant signal transduction is a rapidly expanding field of research, and during the last decade a wealth of insight into how plants perceive and transmit signals as part of normal development and in response to environmental cues has been and is continuing to be unraveled. Although ?signaling cascades are often viewed as linear chains of events it is now becoming increasingly apparent, through the use of cell biological, molecular and genetic approaches, that plant signal transduction involves extensive cross-talk between different pathways. The numerous interactions and intersections which take place are potentially important to modulate and balance the various inputs from different signaling cascades so that plants can integrate all this information to execute the proper developmental responses.

Carbohydrate Metabolism↗
PubMed2025

MYC Regulates a DNA Repair Gene Expression Program in Small Cell Carcinoma of the Ovary, Hypercalcemic Type.

BACKGROUND/OBJECTIVES: SCCOHT is an aggressive and often fatal cancer that belongs to the ~20% of cancers defined by mutations to subunits of the SWI/SNF chromatin remodeling complex. In SCCOHT, mutations to the SMARCA4 gene, which encodes the SWI/SNF ATPase BRG1, are sufficient to impair SWI/SNF function. This single genetic lesion leads to a cascade of events that promote tumorigenesis, some of which may involve the intersection of SWI/SNF with oncogenic pathways such as those regulated by the MYC oncogene. In SCCOHT tumors and other cancers marked by SWI/SNF subunit mutation, MYC target genes are recurrently activated, pointing to a relationship between SWI/SNF and MYC that has yet to be fully explored. METHODS: In this study, we investigate the contribution of MYC to SCCOHT biology by performing a combination of chromatin binding and transcriptome assays in genetically engineered SCCOHT cell lines, with subsequent validation using patient tumor expression data. RESULTS: We find that MYC binds to thousands of active promoters in the BIN-67 SCCOHT cell line and that the depletion of MYC results in a broad range of gene expression changes with a notable effect on the expression of genes related to DNA repair. We uncover an MYC-regulated DNA repair gene expression program in BIN-67 cells that is antagonized by BRG1 reintroduction. Finally, we identify a DNA repair gene signature that is upregulated in SCCOHT tumors and in tumors defined by loss of the SWI/SNF subunit SNF5. CONCLUSIONS: Collectively, these data implicate MYC as a robust regulator of DNA repair gene expression in SCCOHT and lay a foundation for future studies focused on interrogating the relationship between BRG1 and MYC.

ATR↗
PubMed1994

Two Drosophila regulatory genes, deformed and the Broad-Complex, share common functions in development of adult CNS, head, and salivary glands.

Deformed (Dfd), a homeotic selector gene required for segment identity in the head, and the Broad-Complex (BR-C), a steroid hormone-regulated locus required for metamorphosis of the epidermis and multiple internal tissues, are members of distinct genetic regulatory hierarchies. Their protein products contain DNA-binding domains (of the homeodomain and zinc-finger variety, respectively) and are believed to act by regulating the transcription of target genes. In this study we demonstrate that Dfd and BR-C mutants dying during metamorphosis share defects of CNS reorganization, ventral adult head development, and adult salivary gland morphogenesis. Specifically, the shared phenotypes are (i) failure to separate the subesophageal ganglion (SEG) from the thoracic ganglion (TG); (ii) structural and functional abnormalities of the proboscis and maxillary palps, innervated by the SEG; and (iii) failure of the adult salivary glands to extend into the thorax. Experiments performed with a conditional allele demonstrate that Dfd+ function during either larval life or metamorphosis is sufficient to rescue the SEG-TG separation phenotype. BR-C;Dfd double mutants show synergistic enhancement of the ventral head defects. This genetic interaction suggests that the segment identity and steroid hormone-sensitive regulatory hierarchies intersect during postembryonic development.

Animals↗
PubMed2005

The role of health education and behavior in public health genetics.

This article highlights the important role of health behavior and health education (HBHE) research in public health genetics. Broadly defined, public health genetics is the integration of genetic advancements and technologies in the study and practice of public health. The potential role of HBHE within this area is presented across two intersecting continua--namely, the continuum between research and practice and the continuum between individual/personalized medicine and population health. The authors begin this article with an overview of current issues arising from the use of genetic information to improve the public's health and provide a framework for understanding the multidimensional role of HBHE research in translating genetic research into medical and public health practice. An introduction to the nine articles and two practice notes included in this special issue is also provided to draw attention to the crosscutting themes and issues presented.

Genetic Research↗
PubMed2005

Symbiotic relationships: saviour siblings, family rights and biomedicine.

It is now possible to combine the use of preimplantation genetic diagnosis (PGD) and tissue matching to select an IVF embryo that will, after birth, be a compatible tissue donor for an existing individual. This article analyses the ethical issues and the regulatory frameworks that intersect around the creation of tissue compatible children.

Australia↗
PubMed1982

Genetic specificity of DNA synthesized in the absence of T4 bacteriophage gene 44 protein.

Upon infection of Escherichia coli B with T4 phage with DO amber mutation in gene 44, a minimal amount of phage DNA is synthesized. This progeny DNA is, for the most part, covalently attached to the parental DNA. Analysis of the genetic representation of this DNA was performed by hybridization to cloned genetic segments. It was shown that areas preferentially replicated differ from origins observed in "normal" replication: under normal conditions, there is a strong origin in the genetic area of genes 50-5 and lack of initiation within the group of genes 40-43 and 35-52. In contrast, in the absence of the gene 44 protein, the genetic area of 50-5 is underrepresented, genes 35-36, tRNA, and genes 40-41 are the most prominent among progeny DNA, and the area of gene 39 is least represented. Since the area of gene 35 is known from the genetic data or other to be a high-frequency recombination area, and since the area of gene 39 is known to display a low frequency of recombination, we postulate that the observed uptake of label occurs at the site-specific recombinational intersections.

DNA Replication↗
PubMed2003

Bioethics and rural health: theorizing place, space, and subjects.

The field of bioethics has been criticized for its universalizing tendencies, attributed in a large part to its foundations in moral philosophy and the level of abstraction of much bioethical discourse. Efforts to particularize bioethics have included the "turn toward casuistry", the emergence of feminist and disability rights critiques of mainstream bioethics, and ethnographic contributions that examine the situatedness of ethical acts, practices, and meanings in local contexts. Such work introduces into bioethics dimensions of space, place, and time; nonetheless, these remain relatively unexplored as constitutive elements and/or influences of the phenomena of ethics discourse and ethics-related practices. Drawing from an ethnographic study of genetics in rural health, this paper presents a sociological discussion of space/time and bioethics through examination of rural health settings. Issues raised include intersections of spatial and power relations, socio-spatial gradients of expertise, and socio-spatial dimensions of ethics knowledge and practices within medical settings.

Bioethics↗
PubMed2006

Interspecific hybridization in ants: at the intersection of ecology, evolution, and behavior.

Ants are social and are haplodiploid. This combination may allow the evolution of a variety of unusual genetic pathways to achieve reproductive success. These include hybridizing across species, differential use of sperm to create a hybrid worker population, and reproductively isolated gene pools that depend on each other for their survival. Although there are demonstrable costs for colony development and reproduction, these phenomena may nevertheless be relatively common in nature. The specific ecological advantages that favor the evolution of these reproductive modes remain to be discovered.

Animals↗
PubMed2004

Data mining and genetic algorithm based gene/SNP selection.

OBJECTIVE: Genomic studies provide large volumes of data with the number of single nucleotide polymorphisms (SNPs) ranging into thousands. The analysis of SNPs permits determining relationships between genotypic and phenotypic information as well as the identification of SNPs related to a disease. The growing wealth of information and advances in biology call for the development of approaches for discovery of new knowledge. One such area is the identification of gene/SNP patterns impacting cure/drug development for various diseases. METHODS: A new approach for predicting drug effectiveness is presented. The approach is based on data mining and genetic algorithms. A global search mechanism, weighted decision tree, decision-tree-based wrapper, a correlation-based heuristic, and the identification of intersecting feature sets are employed for selecting significant genes. RESULTS: The feature selection approach has resulted in 85% reduction of number of features. The relative increase in cross-validation accuracy and specificity for the significant gene/SNP set was 10% and 3.2%, respectively. CONCLUSION: The feature selection approach was successfully applied to data sets for drug and placebo subjects. The number of features has been significantly reduced while the quality of knowledge was enhanced. The feature set intersection approach provided the most significant genes/SNPs. The results reported in the paper discuss associations among SNPs resulting in patient-specific treatment protocols.

Algorithms↗
PubMed2003

Five components of the ethylene-response pathway identified in a screen for weak ethylene-insensitive mutants in Arabidopsis.

Five ethylene-insensitive loci (wei1-wei5) were identified by using a low-dose screen for "weak" ethylene-insensitive mutants. wei1, wei2, and wei3 seedlings showed hormone insensitivity only in roots, whereas wei4 and wei5 displayed insensitivity in both roots and hypocotyls. The genes corresponding to wei1, wei4, and wei5 were isolated using a positional cloning approach. The wei1 mutant harbored a recessive mutation in TIR1, which encodes a component of the SCF protein ubiquitin ligase involved in the auxin response. wei4, a dominant mutant, resulted from a mutation in the ethylene receptor ERS, whereas wei5, a semidominant mutant, was caused by a mutation in the EIN3-related transcription factor gene EIL1. The simultaneous loss of functional WEI5EIL1 and EIN3 nearly completely abolished the ethylene response in etiolated seedlings, and adult plants were highly susceptible to infection by the necrotrophic fungal pathogen Botrytis cinerea. Moreover, wei5eil1 ein3 double mutants were able to fully suppress constitutive signaling caused by ctr1, suggesting a synergistic interaction among these gene products. Unlike previously known root ethylene-insensitive mutants, wei2 and wei3 were not affected in their response to auxin and showed a normal response to gravity. Genetic mapping studies indicate that wei2 and wei3 correspond to previously unidentified ethylene pathway genes that may control cell-elongation processes functioning at the intersection of the ethylene and auxin response pathways.

Alleles↗