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Cora E. Lewis John P. Bantle Alain G. Bertoni George Blackburn Frederick L. Brancati George A. Bray Lawrence J. Cheskin Jeffrey M. Curtis Caitlin Egan Mary Evans John P. Foreyt Siran Ghazarian Bethany Barone Gibbs Stephen P. Glasser Edward W. Gregg Helen P. Hazuda Louise Hesson James O. Hill Edward S. Horton Van S. Hubbard John M. Jakicic Robert W. Jeffery Karen C. Johnson Steven E. Kahn Abbas E. Kitabchi Dalane Kitzman William C. Knowler Edward Lipkin Sara Michaels Maria G. Montez David M. Nathan Ebenezer Nyenwe Jennifer Patricio Anne Peters Xavier Pi‐Sunyer Henry Pownall David M. Reboussin Donna H. Ryan Thomas A. Wadden Lynne E. Wagenknecht Holly Wyatt Rena R. Wing Susan Z. Yanovski 《Obesity (Silver Spring, Md.)》2020,28(2):247-258
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Objectively Assessed Physical Activity and Weight Loss Maintenance among Individuals Enrolled in a Lifestyle Intervention 下载免费PDF全文
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Mark D’Ascenzo Carl Meacham Jacob Kitzman Christina Middle Jim Knight Roger Winer Miroslav Kukricar Todd Richmond Thomas J. Albert Anne Czechanski Leah Rae Donahue Jason Affourtit Jeffrey A. Jeddeloh Laura Reinholdt 《Mammalian genome》2009,20(7):424-436
Forward genetics (phenotype-driven approaches) remain the primary source for allelic variants in the mouse. Unfortunately,
the gap between observable phenotype and causative genotype limits the widespread use of spontaneous and induced mouse mutants.
As alternatives to traditional positional cloning and mutation detection approaches, sequence capture and next-generation
sequencing technologies can be used to rapidly sequence subsets of the genome. Application of these technologies to mutation
detection efforts in the mouse has the potential to significantly reduce the time and resources required for mutation identification
by abrogating the need for high-resolution genetic mapping, long-range PCR, and sequencing of individual PCR amplimers. As
proof of principle, we used array-based sequence capture and pyrosequencing to sequence an allelic series from the classically
defined Kit locus (~200 kb) from each of five noncomplementing Kit mutants (one known allele and four unknown alleles) and have successfully identified and validated a nonsynonymous coding
mutation for each allele. These data represent the first documentation and validation that these new technologies can be used
to efficiently discover causative mutations. Importantly, these data also provide a specific methodological foundation for
the development of large-scale mutation detection efforts in the laboratory mouse.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.
M. D’Ascenzo and C. Meacham contributed equally to this work. 相似文献
4.
Nathan M. Springer Kai Ying Yan Fu Tieming Ji Cheng-Ting Yeh Yi Jia Wei Wu Todd Richmond Jacob Kitzman Heidi Rosenbaum A. Leonardo Iniguez W. Brad Barbazuk Jeffrey A. Jeddeloh Dan Nettleton Patrick S. Schnable 《PLoS genetics》2009,5(11)
Following the domestication of maize over the past ∼10,000 years, breeders have exploited the extensive genetic diversity of this species to mold its phenotype to meet human needs. The extent of structural variation, including copy number variation (CNV) and presence/absence variation (PAV), which are thought to contribute to the extraordinary phenotypic diversity and plasticity of this important crop, have not been elucidated. Whole-genome, array-based, comparative genomic hybridization (CGH) revealed a level of structural diversity between the inbred lines B73 and Mo17 that is unprecedented among higher eukaryotes. A detailed analysis of altered segments of DNA conservatively estimates that there are several hundred CNV sequences among the two genotypes, as well as several thousand PAV sequences that are present in B73 but not Mo17. Haplotype-specific PAVs contain hundreds of single-copy, expressed genes that may contribute to heterosis and to the extraordinary phenotypic diversity of this important crop. 相似文献
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Yan Fu Nathan M. Springer Daniel J. Gerhardt Kai Ying Cheng‐Ting Yeh Wei Wu Ruth Swanson‐Wagner Mark D’Ascenzo Tracy Millard Lindsay Freeberg Natsuyo Aoyama Jacob Kitzman Daniel Burgess Todd Richmond Thomas J. Albert W. Brad Barbazuk Jeffrey A. Jeddeloh Patrick S. Schnable 《The Plant journal : for cell and molecular biology》2010,62(5):898-909
Sequence capture technologies, pioneered in mammalian genomes, enable the resequencing of targeted genomic regions. Most capture protocols require blocking DNA, the production of which in large quantities can prove challenging. A blocker‐free, two‐stage capture protocol was developed using NimbleGen arrays. The first capture depletes the library of repetitive sequences, while the second enriches for target loci. This strategy was used to resequence non‐repetitive portions of an approximately 2.2 Mb chromosomal interval and a set of 43 genes dispersed in the 2.3 Gb maize genome. This approach achieved approximately 1800–3000‐fold enrichment and 80–98% coverage of targeted bases. More than 2500 SNPs were identified in target genes. Low rates of false‐positive SNP predictions were obtained, even in the presence of captured paralogous sequences. Importantly, it was possible to recover novel sequences from non‐reference alleles. The ability to design novel repeat‐subtraction and target capture arrays makes this technology accessible in any species. 相似文献
7.
Adey A Morrison HG Asan Xun X Kitzman JO Turner EH Stackhouse B MacKenzie AP Caruccio NC Zhang X Shendure J 《Genome biology》2010,11(12):R119-17
We characterize and extend a highly efficient method for constructing shotgun fragment libraries in which transposase catalyzes in vitro DNA fragmentation and adaptor incorporation simultaneously. We apply this method to sequencing a human genome and find that coverage biases are comparable to those of conventional protocols. We also extend its capabilities by developing protocols for sub-nanogram library construction, exome capture from 50 ng of input DNA, PCR-free and colony PCR library construction, and 96-plex sample indexing. 相似文献
8.
Matthew N Bainbridge Min Wang Daniel L Burgess Christie Kovar Matthew J Rodesch Mark D'Ascenzo Jacob Kitzman Yuan-Qing Wu Irene Newsham Todd A Richmond Jeffrey A Jeddeloh Donna Muzny Thomas J Albert Richard A Gibbs 《Genome biology》2010,11(6):1-8
We have developed a solution-based method for targeted DNA capture-sequencing that is directed to the complete human exome. Using this approach allows the discovery of greater than 95% of all expected heterozygous singe base variants, requires as little as 3 Gbp of raw sequence data and constitutes an effective tool for identifying rare coding alleles in large scale genomic studies. 相似文献
9.
Stephen B. Kritchevsky Kristen M. Beavers Michael E. Miller M. Kyla Shea Denise K. Houston Dalane W. Kitzman Barbara J. Nicklas 《PloS one》2015,10(3)
Background
Obesity is associated with increased mortality, and weight loss trials show rapid improvement in many mortality risk factors. Yet, observational studies typically associate weight loss with higher mortality risk. The purpose of this meta-analysis of randomized controlled trials (RCTs) of weight loss was to clarify the effects of intentional weight loss on mortality.Methods
2,484 abstracts were identified and reviewed in PUBMED, yielding 15 RCTs reporting (1) randomization to weight loss or non-weight loss arms, (2) duration of ≥18 months, and (3) deaths by intervention arm. Weight loss interventions were all lifestyle-based. Relative risks (RR) and 95% confidence intervals (95% CI) were estimated for each trial. For trials reporting at least one death (n = 12), a summary estimate was calculated using the Mantel-Haenszel method. Sensitivity analysis using sparse data methods included remaining trials.Results
Trials enrolled 17,186 participants (53% female, mean age at randomization = 52 years). Mean body mass indices ranged from 30–46 kg/m2, follow-up times ranged from 18 months to 12.6 years (mean: 27 months), and average weight loss in reported trials was 5.5±4.0 kg. A total of 264 deaths were reported in weight loss groups and 310 in non-weight loss groups. The weight loss groups experienced a 15% lower all-cause mortality risk (RR = 0.85; 95% CI: 0.73–1.00). There was no evidence for heterogeneity of effect (Cochran’s Q = 5.59 (11 d.f.; p = 0.90); I2 = 0). Results were similar in trials with a mean age at randomization ≥55 years (RR = 0.84; 95% CI 0.71–0.99) and a follow-up time of ≥4 years (RR = 0.85; 95% CI 0.72–1.00).Conclusions
In obese adults, intentional weight loss may be associated with approximately a 15% reduction in all-cause mortality. 相似文献10.
Bertoni AG Wagenknecht LE Kitzman DW Marcovina SM Rushing JT Espeland MA;Brain Natriuretic Peptide Subgroup of the Look AHEAD Research Group 《Obesity (Silver Spring, Md.)》2012,20(7):1511-1518
Look AHEAD (Action for Health in Diabetes) is a randomized trial determining whether intensive lifestyle intervention (ILI) aimed at long‐term weight loss and increased physical fitness reduces cardiovascular morbidity and mortality in overweight and obese individuals with type 2 diabetes compared to control (diabetes support and education, DSE). We investigated the correlates of N‐terminal pro‐brain natriuretic peptide (NT‐proBNP), a biomarker associated with heart failure (HF) risk, in a subsample from 15 of 16 participating centers and tested the hypothesis that ILI decreased NT‐proBNP levels. Baseline and 1‐year blood samples were assayed for NT‐proBNP in a random sample of 1,500 without, and all 628 with, self‐reported baseline CVD (cardiovascular disease) (N = 2,128). Linear models were used to assess relationships that log‐transformed NT‐proBNP had with CVD risk factors at baseline and that 1‐year changes in NT‐proBNP had with intervention assignment. At baseline, the mean (s.d.) age, BMI, and hemoglobin A1c (HbA1c) were 59.6 (6.8) years, 36.0 kg/m2 (5.8), and 7.2% (1.1), respectively. Baseline geometric mean NT‐proBNP was not different by condition (ILI 53.3 vs. DSE 51.5, P = 0.45), was not associated with BMI, and was inversely associated with HbA1c. At 1 year, ILI participants achieved an average weight loss of 8.3% compared to 0.7% in DSE. At 1 year, NT‐proBNP levels increased to a greater extent in the intervention arm (ILI +21.3% vs. DSE +14.2%, P = 0.046). The increased NT‐proBNP associated with ILI was correlated with changes in HbA1c, BMI, and body composition. In conclusion, among overweight and obese persons with diabetes, an ILI that reduced weight was associated with an increased NT‐proBNP. 相似文献