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1.
Using the polymerase chain reaction (PCR) with Taq DNA polymerase, we have amplified a 2.4-kb fragment of genomic DNA containing the adenine phosphoribosyltransferase (APRT) gene from patients with APRT deficiency. Several clones from each patient were sequenced after subcloning the PCR product into M13mp18. Selected regions of the amplified fragment were also sequenced directly. This enabled us to distinguish PCR-induced errors from endogenous mutations and polymorphisms in each clone. 44 PCR errors were found in a total of 57,94 kb of DNA sequenced from 25 clones from 7 patients. All the errors were due to the PCR process and not to subcloning, as shown by sequence analysis of 5 APRT-positive clones isolated from a phage genomic library. 相似文献
2.
A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23)(FRA16D) loci 总被引:8,自引:0,他引:8
A Fratini R N Simmers D F Callen V J Hyland J A Tischfield P J Stambrook G R Sutherland 《Cytogenetics and cell genetics》1986,43(1-2):10-13
The human adenine phosphoribosyltransferase gene (APRT) was mapped with respect to the haptoglobin gene (HP) and the fragile site at 16q23.2 (FRA16D). A subclone of APRT and a cDNA clone of HP were used for molecular hybridization to DNA from mouse-human hybrid cell lines containing specific chromosome 16 translocations. The APRT subclone was used for in situ hybridization to chromosomes expressing FRA16D. APRT was found to be distal to HP and FRA16D and was localized at 16q24, making the gene order cen-FRA16B-HP-FRA16D-APRT-qter. 相似文献
3.
mtDNA diversity in rhesus monkeys reveals overestimates of divergence time and paraphyly with neighboring species 总被引:4,自引:0,他引:4
Reconstructions of the human-African great ape phylogeny by using
mitochondrial DNA (mtDNA) have been subject to considerable debate. One
confounding factor may be the lack of data on intraspecific variation. To
test this hypothesis, we examined the effect of intraspecific mtDNA
diversity on the phylogenetic reconstruction of another Plio- Pleistocene
radiation of higher primates, the fascicularis group of macaque (Macaca)
monkey species. Fifteen endonucleases were used to identify 10 haplotypes
of 40-47 restriction sites in M. mulatta, which were compared with similar
data for the other members of this species group. Interpopulational,
intraspecific mtDNA diversity was large (0.5%- 4.5%), and estimates of
divergence time and branching order incorporating this variation were
substantially different from those based on single representatives of each
species. We conclude that intraspecific mtDNA diversity is substantial in
at least some primate species. Consequently, without prior information on
the extent of genetic diversity within a particular species, intraspecific
variation must be assessed and accounted for when reconstructing primate
phylogenies. Further, we question the reliability of hominoid mtDNA
phylogenies, based as they are on one or a few representatives of each
species, in an already depauperate superfamily of primates.
相似文献
4.
Arpana Agrawal Sarah J. Brislin Kathleen K. Bucholz Danielle Dick Ronald P. Hart Emma C. Johnson Jacquelyn Meyers Jessica Salvatore Paul Slesinger COGA Collaborators Laura Almasy Tatiana Foroud Alison Goate Victor Hesselbrock John Kramer Samuel Kuperman Alison K. Merikangas John I. Nurnberger Jay Tischfield Howard J. Edenberg Bernice Porjesz 《Genes, Brain & Behavior》2023,22(5):e12864
5.
Colony formation by variant Chinese hamster cells highly resistant to adenine analogs and deficient in adenine phosphoribosyltransferase (APRT) activity was measured after co-cultivation with APRT+, CHO-K1 cells in medium containing one of three different adenine analogs. Depending upon the density of APRT+ cells and the specific adenine analog, large differences in the recovery of APRT? colonies were observed. The particular adenine analog and APRT+ cell density were more significant factors in the recovery of APRT? colonies than the concentration of the analog or the level of APRT activity. The number of wild-type cells (CHO-K1) required to inhibit formation of APRT? colonies by 50% (mean lethal density; MLD50) with 65 μg/ml 8-aza-adenine (AzA) as the selective drug was 8.0 × 105 cells/100 mm dish (1.5 × 104/cm2). With 100 μg/ml 2,6-diaminopurine (DAP) the MLD50 for CHO-K1 was 4.0 × 105 cells/100 mm dish (7.3 × 103/cm2). The MLD50 for CHO-K1 when the DAP concentration was decreased to 50 μg/ml was only slightly higher, 5 × 105 cells/100 mm dish (9.1 × 103/cm2). The most toxic effect was observed with 2-fluoroadenine (FA). The MLD50 for CHO-K1 in 2 μg/ml FA was 4.5 × 104 cells/100 mm dish (8.2 × 102/cm2), a cell density which permits minimal direct contact between APRT+ and APRT? cells. The toxic effects of FA on individually resistant, APRT? cells were found to be mediated by metabolites released into the medium by dying APRT+ cells. This metabolite toxicity to APRT? cells was also demonstrated in mixtures with cells having only 8% of wild-type APRT activity. The MLD50 for these APRT+ (8%) cells in 2 μg/ml FA was 7.5 × 104 cells/100 dish (1.4 × 103/cm2), a small difference from the MLD50 for cells with wild-type levels of APRT activity. The differences in the recovery of APRT? colonies from mixtures with APRT+ cells in these three adenine analogs are critical to the design of procedures for the selection of APRT? cells from populations of APRT+ cells and emphasize the importance of establishing the parameters of metabolic cooperation, not only in terms of cell density but also with regard to the particular selective agent, in any experiment designed to determine precise mutation rates or to test putative mutagens upon mammalian cells in culture. 相似文献
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9.
Leah Wetherill Dongbing Lai Emma C. Johnson Andrey Anokhin Lance Bauer Kathleen K. Bucholz Danielle M. Dick Ahmad R. Hariri Victor Hesselbrock Chella Kamarajan John Kramer Samuel Kuperman Jacquelyn L. Meyers John I. Nurnberger Jr Marc Schuckit Denise M. Scott Robert E. Taylor Jay Tischfield Bernice Porjesz Alison M. Goate Howard J. Edenberg Tatiana Foroud Ryan Bogdan Arpana Agrawal 《Genes, Brain & Behavior》2019,18(6)
Genetic influences on alcohol and drug dependence partially overlap, however, specific loci underlying this overlap remain unclear. We conducted a genome‐wide association study (GWAS) of a phenotype representing alcohol or illicit drug dependence (ANYDEP) among 7291 European‐Americans (EA; 2927 cases) and 3132 African‐Americans (AA: 1315 cases) participating in the family‐based Collaborative Study on the Genetics of Alcoholism. ANYDEP was heritable (h 2 in EA = 0.60, AA = 0.37). The AA GWAS identified three regions with genome‐wide significant (GWS; P < 5E‐08) single nucleotide polymorphisms (SNPs) on chromosomes 3 (rs34066662, rs58801820) and 13 (rs75168521, rs78886294), and an insertion‐deletion on chromosome 5 (chr5:141988181). No polymorphisms reached GWS in the EA. One GWS region (chromosome 1: rs1890881) emerged from a trans‐ancestral meta‐analysis (EA + AA) of ANYDEP, and was attributable to alcohol dependence in both samples. Four genes (AA: CRKL, DZIP3, SBK3; EA: P2RX6) and four sets of genes were significantly enriched within biological pathways for hemostasis and signal transduction. GWS signals did not replicate in two independent samples but there was weak evidence for association between rs1890881 and alcohol intake in the UK Biobank. Among 118 AA and 481 EA individuals from the Duke Neurogenetics Study, rs75168521 and rs1890881 genotypes were associated with variability in reward‐related ventral striatum activation. This study identified novel loci for substance dependence and provides preliminary evidence that these variants are also associated with individual differences in neural reward reactivity. Gene discovery efforts in non‐European samples with distinct patterns of substance use may lead to the identification of novel ancestry‐specific genetic markers of risk. 相似文献
10.
Brooke Sadler Gabe Haller Howard Edenberg Jay Tischfield Andy Brooks John Kramer Marc Schuckit John Nurnberger Alison Goate 《PloS one》2015,10(8)
Much of the evolution of human behavior remains a mystery, including how certain disadvantageous behaviors are so prevalent. Nicotine addiction is one such phenotype. Several loci have been implicated in nicotine related phenotypes including the nicotinic receptor gene clusters (CHRNs) on chromosomes 8 and 15. Here we use 1000 Genomes sequence data from 3 populations (Africans, Asians and Europeans) to examine whether natural selection has occurred at these loci. We used Tajima’s D and the integrated haplotype score (iHS) to test for evidence of natural selection. Our results provide evidence for strong selection in the nicotinic receptor gene cluster on chromosome 8, previously found to be significantly associated with both nicotine and cocaine dependence, as well as evidence selection acting on the region containing the CHRNA5 nicotinic receptor gene on chromosome 15, that is genome wide significant for risk for nicotine dependence. To examine the possibility that this selection is related to memory and learning, we utilized genetic data from the Collaborative Studies on the Genetics of Alcoholism (COGA) to test variants within these regions with three tests of memory and learning, the Wechsler Adult Intelligence Scale (WAIS) Block Design, WAIS Digit Symbol and WAIS Information tests. Of the 17 SNPs genotyped in COGA in this region, we find one significantly associated with WAIS digit symbol test results. This test captures aspects of reaction time and memory, suggesting that a phenotype relating to memory and learning may have been the driving force behind selection at these loci. This study could begin to explain why these seemingly deleterious SNPs are present at their current frequencies. 相似文献