Disease relevance of Genetics

• A landmark in cancer genetics in 1994 was the isolation of a gene for breast and ovarian cancer susceptibility (BRCA1) [1].
• Growing pains for the environmental genetics of breast cancer: observations on a study of the glutathione S-transferases [2].
• We examined the penetrance of such mutations using data from eight groups from Europe, Australia and the United States that are part of The Melanoma Genetics Consortium. METHODS: We analyzed 80 families with documented CDKN2A mutations and multiple cases of cutaneous melanoma [3].
• However, rapid advances are now being made in inflammatory bowel disease genetics, leading already to identification of the first gene linked to Crohn's disease susceptibility: NOD2/CARD15 [4].
• Evidence is growing for the role of systemic factors, such as genetics, diet, estrogen use, and bone density, and local biomechanical factors, such as muscle weakness, obesity, and joint laxity [5].

Psychiatry related information on Genetics

• The application of molecular pathology and genetics has led to the recognition that the four genes implicated to date in familial Alzheimer's disease all chronically elevate cerebral levels of the amyloid beta-protein (Abeta) [6].
• Familial transmission of substance dependence: alcohol, marijuana, cocaine, and habitual smoking: a report from the Collaborative Study on the Genetics of Alcoholism [7].
• OBJECTIVE: Depression (major depression or depressive syndrome) is more prevalent in alcoholic than in nonalcoholic subjects in families with multiple members with alcoholism studied as part of the Collaborative Study on the Genetics of Alcoholism (National Institute on Alcohol Abuse and Alcoholism) [8].
• BACKGROUND: We have reported genetic linkage between bipolar disorder and markers on chromosome 6q16.3-22.1 in the National Institute of Mental Health Genetics Initiative wave 3 pedigrees [9].
• The Moebius syndrome: aetiology, incidence of mental retardation, and genetics [10].

High impact information on Genetics

• Advancing our knowledge in biochemistry, genetics, and microbiology through studies on tryptophan metabolism [11].
• Biochemistry and genetics of von Willebrand factor [12].
• Function and genetics of dystrophin and dystrophin-related proteins in muscle [13].
• In areas with high incidence, NPC clusters in families, which suggests that both geography and genetics may influence disease risk [14].
• Two papers in this issue of Nature Genetics describe homozygous mutations in a new gene on chromosome 2q33 in 4 families of Arabian origin with a rare form of juvenile onset ALS (ALS2) [15].

Chemical compound and disease context of Genetics

• The authors' conjoint work on genetics of experimental cholesterol cholelithiasis in inbred mice promises help in pinpointing orthologous genetic loci (LITH genes) in the human genome [16].
• These have singularly contributed to open new avenues of scientific interest in the field: comparative phage genomics; horizontal gene transfer events in bacterial or phage populations; and genetics of external polysaccharide production [17].
• Analysis of interactions between Activating Region 1 of Escherichia coli FNR protein and the C-terminal domain of the RNA polymerase alpha subunit: use of alanine scanning and suppression genetics [18].
• We established a reverse genetics system for the M gene of influenza A virus, using amantadine resistance as a selection criterion [19].
• To reexamine the role of these residues in the influenza virus life cycle, a series of cysteine-to-serine mutations were introduced into the HA gene of influenza virus A/Udorn/72 (Ud) (H3N2) by using a highly efficient reverse genetics system [20].

Biological context of Genetics

• Through the systematic use of genetics, biochemistry, molecular biology and cell biology, they have identified a complex set of interacting molecules that work coordinately to regulate cholesterol import and synthesis [21].
• Research from genetics, epidemiology, and cell biology all converge, suggesting that cholesterol plays a central role in the biology of amyloid precursor protein and the toxic peptide generated by its cleavage, beta-amyloid (Abeta) [22].
• In the past two years, mouse genetics and gene expression profiling have led to major advances in our understanding of how the pRB and p53 pathways regulate apoptosis and thus the development of tumours [23].
• Temporal aspects of antigen exposure, antigen processing of specific peptide antigens, and the interplay between specific antigens, MHC genetics, and host T-cell responses remain to be explored [24].
• The power of lac genetics can be applied to almost any bacterial system with gene fusions that hook any gene of interest to lacZ, which is the structural gene that encodes beta-galactosidase [25].

Anatomical context of Genetics

• The genetics of the protein 4.1 family: organizers of the membrane and cytoskeleton [26].
• Here we combine genetics and cell biology to identify genes that control the polarized distribution of actin filaments within the Drosophila follicular epithelium [27].
• Apart from alterations in the RET/PTC-RAS-BRAF pathway, comparatively little is known about the genetics of papillary thyroid carcinoma (PTC) [28].
• Pregnancy status and fetal prion genetics determine PrPSc accumulation in placentomes of scrapie-infected sheep [29].
• Although, in principle, transposition may occur in any cell type, expression and transposition of a full-length functional element in the germ line are necessary to explain the evolutionary genetics of L1 [30].

Associations of Genetics with chemical compounds

• Genetics and insurance in Britain: why more than just the Atlantic divides the English-speaking nations [31].
• Evolutionary genetics. Siberian mice upset Mendel [32].
• The huntingtin gene product is expressed at similar levels in patients and controls, and the genetics of the disorder suggest that the expansion of the polyglutamine repeat induces a toxic gain of function, perhaps through interactions with other cellular proteins [33].
• Genetics of chloroquine resistance in malaria parasites [34].
• Genetics and Medicine: an evolving relationship [35].

Gene context of Genetics

• Using mouse genetics, we find that Pten and Tsc2 act synergistically to suppress the severity of a subset of tumors specific to loss of each of these genes [36].
• Genetics has revealed three additional genes, staufen, vasa, and tudor, that are also essential for pole plasm formation [37].
• These results, coupled with the closely controlled genetics of this study, indicate that reductions in the expression of P-selectin, ICAM-1, or E-selectin provide direct protection from atherosclerotic lesion formation in this model [38].
• CBX7 does not inter-function or colocalize with Bmi1, and both can exert their actions independently of each other as shown by reverse genetics [39].
• Here we review recent developments in the analysis of Mitf function in vivo and in vitro and show how traditional genetics, modern forward genetics and in vitro biochemical analyses have combined to produce an intriguing story on the role and actions of a gene family in a living organism [40].

Analytical, diagnostic and therapeutic context of Genetics

• Analysis of GABAA receptor function and dissection of the pharmacology of benzodiazepines and general anesthetics through mouse genetics [41].
• Molecular cloning of a cognate cDNA established a cellular host origin for PrPSc protein and a convergence with the genetics of host susceptibility [42].
• The recent discovery of PTPN22 as a novel susceptibility gene in human type 1 diabetes and continued progress in defining genes in animal models of the disease mark a fruitful period in the field of type 1 diabetes genetics [43].
• Role of gender and hormone-related events on IgE, atopy, and eosinophils in the Epidemiological Study on the Genetics and Environment of Asthma, bronchial hyperresponsiveness and atopy [44].
• Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis [45].

References