Joseph H. M. Wedderburn and the structure theory of algebras

Archive for History of Exact Sciences -     

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

Constitutional abnormalities at the imprinted 11p15 growth regulatory region cause syndromes characterized by disordered growth, some of which include a risk of Wilms tumor. We explored their possible contribution to nonsyndromic Wilms tumor and identified constitutional 11p15 abnormalities in genomic lymphocyte DNA from 13 of 437 individuals (3%) with sporadic Wilms tumor without features of growth disorders, including 12% of bilateral cases (P = 0.001) and in one familial Wilms tumor pedigree. No abnormality was detected in 220 controls (P = 0.006). Abnormalities identified included H19 DMR epimutations, uniparental disomy 11p15 and H19 DMR imprinting center mutations (one microinsertion and one microdeletion), thus identifying microinsertion as a new class of imprinting center mutation. Our data identify constitutional 11p15 defects as one of the most common known causes of Wilms tumor, provide mechanistic insights into imprinting disruption and reveal clinically important epigenotype-phenotype associations. The impact on clinical management dictates that constitutional 11p15 analysis should be considered in all individuals with Wilms tumor.     

Invertebrate fauna of wastewater ponds in southeastern Idaho

Water column invertebrates were sampled with 3.8-L activity traps in 15 sewage, industrial, and radioactive wastewater ponds at the Idaho National Engineering Laboratory in southeastern Idaho. One collection was made per pond, per month, during all months the ponds were ice-free from June 1990 through July 1991. Arsenic, barium, boron, lead, selenium, and mercury were detected in ponds. Sewage ponds generally had higher nitrogen and phosphorus levels than industrial and radioactive ponds. Of the 30 aquatic invertebrate taxa collected, the most ubiquitous were Rotifera, Daphnidea, Eucopepdoa, Ostracoda, Acari, Baetidae, Corixidae, Notonectidiae, Dytiscidae, and Chironomidae. Activity trap samples from sewage ponds contained more Rotifere, Daphnidae, and Notonectide, whereas industrial ponds yielded more Chydoridae, Acari, and Baetidae. Numbers of Oligochaeta, Eucopepoda, Ostracoda, Corixidae, Dytiscidae, and Chironomidae collected were not significantly different between sewage and industrial ponds. Compared with natural systems, these ponds had fewer taxa, but a greater number of individuals of most taxa. The high number of invertebrates collected is attributed to the lack of fish in wastewater ponds and the high levels of nitrogen and phosphorus, particularly in sewage ponds.     

基因差异与不同药物反应

同种药物治疗同种疾病，不同的病人有不同的结果。很快，医生要先为病人做基国检测后再开处方。饱经折磨之后，一位深陷苦恼的年轻妇女拖着疲惫的身躯求助于医生。医生诊断为严重抑郁症后，安慰她道：“现在，我们能给你做个DNA检测，看看什么药对你最恰当。”他从她头上拔下一根头发，“等下午报告出来后我再开处方，你的病很快就会好。”她首次露出长久不见的充满希望的笑容。类似的情景，可能不要很久就会出现。从制药公司和生物技术公司看来，病人不久就能用上适合其本人基因组成的药品。今天的医生只会让这位年轻妇女去试用一种药品…     

Pro-Latour

In this comment I want to clarify five topics. The first topic concerns the importance of looking back at the very principles of the foundations of Western society. The second comment argues for the original position of Latour within the field of (social) constructivism. In the third comment, I argue that Haraway adds to the science-politics discussion by elaborating her philosophy beyond dichotomy. In the fourth comment, I argue that the terms ‘objective’ and ‘rational’ are central philosophical concepts which should be retained. Finally I will make the connection between ‘what’ is represented and ‘how’ to represent it.     

The implications of viral reservoirs on the elite control of HIV-1 infection

The mechanisms by which a small percentage of HIV-1 infected individuals known as elite suppressors or controllers are able to control viral replication are not fully understood. Early cases of viremic control were attributed to infection with defective virus, but subsequent work has demonstrated that infection with a defective virus is not the exclusive cause of control. Replication-competent virus has been isolated from patients who control viral replication, and studies have demonstrated that evolution occurs in plasma virus but not in virus isolates from the latent reservoir. Additionally, transmission pair studies have demonstrated that patients infected with similar viruses can have dramatically different outcomes of infection. An increased understanding of the viral factors associated with control is important to understand the interplay between viral replication and host control, and has implications for the design of an effective therapeutic vaccine that can lead to a functional cure of HIV-1 infection.     

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Using variants from the 1000 Genomes Project pilot European CEU dataset and data from additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously associated with immune-mediated diseases in 12,041 individuals with celiac disease (cases) and 12,228 controls. We identified 13 new celiac disease risk loci reaching genome-wide significance, bringing the number of known loci (including the HLA locus) to 40. We found multiple independent association signals at over one-third of these loci, a finding that is attributable to a combination of common, low-frequency and rare genetic variants. Compared to previously available data such as those from HapMap3, our dense genotyping in a large sample collection provided a higher resolution of the pattern of linkage disequilibrium and suggested localization of many signals to finer scale regions. In particular, 29 of the 54 fine-mapped signals seemed to be localized to single genes and, in some instances, to gene regulatory elements. Altogether, we define the complex genetic architecture of the risk regions of and refine the risk signals for celiac disease, providing the next step toward uncovering the causal mechanisms of the disease.     

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.     

Identification of renal Cd36 as a determinant of blood pressure and risk for hypertension

To identify renally expressed genes that influence risk for hypertension, we integrated expression quantitative trait locus (QTL) analysis of the kidney with genome-wide correlation analysis of renal expression profiles and blood pressure in recombinant inbred strains derived from the spontaneously hypertensive rat (SHR). This strategy, together with renal transplantation studies in SHR progenitor, transgenic and congenic strains, identified deficient renal expression of Cd36 encoding fatty acid translocase as a genetically determined risk factor for spontaneous hypertension.