Gene loci

Gene locus (human) 19q13.1 1q42.1-43 15q14-15... 

SUMOl haploinsufficiency has been linlced to a developmental defect Based on the finding that a patient with a cleft lip and palate had a mutation in the SUMOl gene locus, a mouse model was generated that had reduced SUMOl expression. Increased frequency for a cleft palate or oblique facial cleft was observed in the transgenic mice, suggesting that SUMO haploinsufficiency can lead to developmental defects. 

The founding member of the TRP channel family, TRP, was identified as the product of a gene locus, which was referred to a transient receptor potential (TRP), because TRP mutant flies display a defect in light induced Ca2+ influx. 

Mavrodi DV, VN Ksenzenko, RE Bonsall, RJ Cook, AM Borodin, LS Thosashow (1998) A seven-gene locus for synthesis of phenazfiie-1-carboxylic acid by Pseudomonas fluorescens 2-79. J Bacterial 180 2541-2548. 

Fig. 6.5(a) OR gene expression. M, maternal and P, paternal DNA strands 1 2, chromosomes from neurones with differential cis/trans regulation (M/P) of each DNA strand (from Chess et al., 1998). [ = OR gene locus = suppressed regulatory element]... 

Genetic Familial prostate cancer is inherited in an autosomal dominant manner. Mutations in p53, Rb, E-cahedrin, a-catenin, androgen receptor, KAII, microsatellite instability, loss of heterozygocity at 1, 2q, 12p, 15q, 16p, and 16q. Candidate prostate cancer gene locus identified on chromosome 1. 

Heterozygous Having different alleles at a gene locus. 

Nimgaonkar, V. L., Zhang, X. R., Brar, J. S. et al. (1996). 5-HT2 receptor gene locus association with schizophrenia or treatment response not detected. Psychiatr. Genet., 6, 23-7. 

In humans, the structural gene locus is on chromosome 19 (M17), and the gene spans over 40 kilobases (kb) including 18 exons and 17 introns (W2, X2). Neu-roleukin, a protein that acts as both a neurotrophic factor and a lymphokine, has been isolated from mouse salivary glands (G7), and subsequently the primary structure of neuroleukin was found to be identical to that of GPI by comparison of the cDNA sequences (C7, FI). The cDNA sequence encodes 558 amino acid residues. The enzyme consists of two identical subunits with a molecular weight of approximately 63,000 and neuroleukin is active as a monomer. 

Shvedova et al. [59] demonstrated that inhalation of SWNTs resulted in mutations of the k-ras gene locus in the lung of mice. Among the mutated genes implicated in pulmonary tumorigenesis, the k-ras oncogene is relevant in lung tumors of mice exposed to chemicals. 

Nguyen, K.T., Kau, D., Gu, J.Q. et al. (2006) A glutamic acid 3-methyltransferase encoded by an accessory gene locus important for daptomycin biosynthesis in Streptomyces roseosporus. Molecular Microbiology, 61 (5), 1294-1307. 

Relling MV, Hancock ML, Rivera GK, Sandlund JT, Ribeiro RC, Krynetski EY et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J Natl Cancer Inst 1999 91[23] 2001-2008. 

The G/A promoter polymorphism at the apoAI gene locus predicts individual variability in fasting and postprandial responses to the HMG CoA reductase inhibitor atorvastatin. Circulation 1999 100(Suppl I) I—239. 

Allele One form of a genetic locus, distinguished from other forms (= alleles) by its particular nucleotide or its coded amino acid sequence. Single nucleotide polymorphisms are biallelic, i.e., one base pair is exchanged with just one other base pair. In such a case, only two different alleles exist in the population for such a gene locus. However, several different alleles may exist in the population if the locus is defined by more than one nucleotide (i.e., microsatelhtes, haplotypes). Thus,... 

Erickson, J. D., Weihe,E., Schafer, M. K. M. etal. The VAChT/ ChAT cholinergic gene locus new aspects of genetic and vesicular regulation of cholinergic function. Prog. Brain Res. 109 69-82,1996. 

Disease Reference Gene Locus origin Normal... 

Ingelman-Sundberg, M. and W.E. Evans, "Unraveling the Functional Genomics of the Human CYP2D6 Gene Locus," Pharmacogenetics, 11, 553-554 (2001). 

There was no increase in mutation frequency at the hypoxanthine-guanine phosphoribosyl transferase gene locus in the presence or absence of S9 (Bootman et al. 1988b), and results were negative in a DNA repair assay with E. coli (Hodson-Walker and May 1988). 

Linkage analysis by studying RFLP patterns in two or more generations of family members afflicted with a disease is useful for genetic counseling for the prediction of inherited disease, in spite of its limitations, such as the possibility of genetic recombination or the presence of more than one gene locus in different family members. 

Swallow, D. M., Gendler, S., Griffith, B., Corney, G., Taylor-Papadimitriou, J., and Bram-well, M. E., The human tumor-associated epithelium mucins are coded by an expressed hypervariable gene locus PUM. Nature (London) 328, 82-84 (1987). 

Obenbreit, S., Till, M., Hofreuter, D., Faller, G., and Haas, R. (1999). Genetic and functional characterization of the alpAB gene locus essential for the adhesion of Helicobacter pylori to human gastric tissue. Mol. Microbiol. 31,1537-1548. 

McLeod, H.L., Siva, C. (2002) The thiopurine S-methyltransferase gene locus— implications for clinical pharmacogenomics. Pharmacogenomics. 3, 89-98. 

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