scholarly journals Lack of Recombination Between the Z-Linked Silver Feather Pattern Locus and the Break Point of a Chromosome Translocation: A Second Occurrence

1994 ◽  
Vol 73 (9) ◽  
pp. 1359-1361 ◽  
Author(s):  
J. JAMES BITGOOD
2018 ◽  
Author(s):  
Javier Lopez-Garrido ◽  
Nikola Ojkic ◽  
Kanika Khanna ◽  
Felix R. Wagner ◽  
Elizabeth Villa ◽  
...  

Genetics ◽  
1986 ◽  
Vol 112 (2) ◽  
pp. 321-342
Author(s):  
Eugene M Rinchik ◽  
Liane B Russell ◽  
Neal G Copeland ◽  
Nancy A Jenkins

ABSTRACT Genes of the dilute-short ear (d-se) region of mouse chromosome 9 comprise an array of loci important to the normal development of the animal. Over 200 spontaneous, chemically induced and radiation-induced mutations at these loci have been identified, making it one of the most genetically well-characterized regions of the mouse. Molecular analysis of this region has recently become feasible by the identification of a dilute mutation that was induced by integration of an ecotropic murine leukemia virus genome. Several unique sequence cellular DNA probes flanking this provirus have now been identified and used to investigate the organization of wild-type chromosomes and chromosomes with radiation-induced d-se region mutations. As expected, several of these mutations are associated with deletions, and, in general, the molecular and genetic complementation maps of these mutants are concordant. Furthermore, a deletion break-point fusion fragment has been identified and has been used to orient the physical map of the d-se region with respect to the genetic complementation map. These experiments provide important initial steps for analyzing this developmentally important region at the molecular level, as well as for studying in detail how a diverse group of mutagens acts on the mammalian germline.


Sensors ◽  
2021 ◽  
Vol 21 (3) ◽  
pp. 824
Author(s):  
Wenting Qiao ◽  
Biao Ma ◽  
Qiangwei Liu ◽  
Xiaoguang Wu ◽  
Gang Li

Cracks and exposed steel bars are the main factors that affect the service life of bridges. It is necessary to detect the surface damage during regular bridge inspections. Due to the complex structure of bridges, automatically detecting bridge damage is a challenging task. In the field of crack classification and segmentation, convolutional neural networks have offer advantages, but ordinary networks cannot completely solve the environmental impact problems in reality. To further overcome these problems, in this paper a new algorithm to detect surface damage called EMA-DenseNet is proposed. The main contribution of this article is to redesign the structure of the densely connected convolutional networks (DenseNet) and add the expected maximum attention (EMA) module after the last pooling layer. The EMA module is obviously helpful to the bridge damage feature extraction. Besides, we use a new loss function which considers the connectivity of pixels, it has been proved to be effective in reducing the break point of fracture prediction and improving the accuracy. To train and test the model, we captured many images from multiple bridges located in Zhejiang (China), and then built a dataset of bridge damage images. First, experiments were carried out on an open concrete crack dataset. The mean pixel accuracy (MPA), mean intersection over union (MIoU), precision and frames per second (FPS) of the EMA-DenseNet are 87.42%, 92.59%, 81.97% and 25.4, respectively. Then we also conducted experiments on a more challenging bridge damage dataset, the MIoU, where MPA, precision and FPS were 79.87%, 86.35%, 74.70% and 14.6, respectively. Compared with the current state-of-the-art algorithms, the proposed algorithm is more accurate and robust in bridge damage detection.


genesis ◽  
2017 ◽  
Vol 55 (9) ◽  
pp. e23054 ◽  
Author(s):  
Mingmei Liao ◽  
Junmei Zhou ◽  
Fen Wang ◽  
Yasmin H. Ali ◽  
Kelvin L. Chan ◽  
...  

Author(s):  
M. Mongiardini ◽  
J. D. Reid

Numerical simulations allow engineers in roadside safety to investigate the safety of retrofit designs minimizing or, in some cases, avoiding the high costs related to the execution of full-scale experimental tests. This paper describes the numerical investigation made to assess the performance of a roadside safety barrier when relocated behind the break point of a 3H:1V slope, found on a Mechanically Stabilized Earth (MSE) system. A safe barrier relocation in the slope would allow reducing the installation width of the MSE system by an equivalent amount, thus decreasing the overall construction costs. The dynamics of a pick-up truck impacting the relocated barrier and the system deformation were simulated in detail using the explicit non-linear dynamic finite element code LS-DYNA. The model was initially calibrated and subsequently validated against results from a previous full-scale crash test with the barrier placed at the slope break point. After a sensitivity analysis regarding the role of suspension failure and tire deflation on the vehicle stability, the system performance was assessed when it was relocated into the slope. Two different configurations were considered, differing for the height of the rail respect to the road surface and the corresponding post embedment into the soil. Conclusions and recommendations were drawn based on the results obtained from the numerical analysis.


1986 ◽  
Vol 28 (2) ◽  
pp. 294-297 ◽  
Author(s):  
E. D. P. Whelan ◽  
R. L. Conner ◽  
J. B. Thomas ◽  
A. D. Kuzyk

A translocation between a common wheat (Triticum aestivum L.) chromosome and chromosome 6 of Elytrigia pontica (Podp.) Holub conferred resistance to feeding by Eriophyes (= Aceria) tulipae Keifer, the mite vector of wheat streak mosaic virus and the wheat spot mosaic agent. Resistance was dominant, but differential transmission occurred between the pollen and the egg. Transmission of resistance through the pollen was low, about 3% in 'Cadet', 'Rescue', and 'Winalta', but significantly higher in 'Norstar' (9.1%). Significant differences also were detected in transmission through the egg. 'Cadet' had the highest transmission (50.9%) and 'Rescue' the lowest (40.5%). However, there were no significant differences among varieties in the frequencies of resistance (50.3–54.5%) in the F2. Less than 10% of the F2 plants were homozygous resistant. Selfed progeny from monosomic or disomic F1 plants from crosses between the homozygous translocation and group-6 monosomics all segregated for susceptibility. Meiotic studies of 25 susceptible F2 plants from these F1 monosomics showed that 21 were either monosomic or disomic and only 4 were nullisomic, indicating that the translocation did not involve any of the group-6 homoeologues. The translocation is considered to be a noncompensating translocation involving a whole arm of chromosome 6 of E. pontica.Key words: wheat, mite (wheat curl), translocation, Triticum.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
K Sonoda ◽  
S Ohno ◽  
M Horie

Abstract Background Genome structural variants (SVs) have larger effect on human genome functions than single nucleotide variants (SNVs). Although short-read sequencing (SRS) is current major next generation sequencing method and has given us a great benefit to elucidate the genetic background of inherited diseases, it does not detect SVs accurately. Long-read sequencing (LRS) produces tens to thousands of kilobases reads and detects the breakpoints of complex SVs. This study aimed to confirm a large deletion, which was suspected by SRS, using LRS by Oxford Nanopore technology (ONT). Methods Genomic libraries for SRS was prepared with HaloPlex. Targeted SRS was performed for 58 genes with MiSeq. Genomic libraries for LRS were prepared using the Ligation sequencing 1D kit SQK-LSK109 (ONT). Whole genome LRS was performed with GridION X5 and R9.4 flow cells (ONT). Results The patient was a five-month-old boy with atrial septal defect (ASD) and atrial tachycardia. Though SRS failed to identify any causative SNVs, the results with SureCall software (Agilent) suspected a deletion between exon 3 to exon 26 in MYH6 encoding α heavy chains of cardiac myosin. The variants in MYH6 are known to be associated with ASD. Because a deletion between MYH6 exon 26 and MYH7 exon 27 was reported as esv2748480 on the Database of Genomic Variants, we performed long-range PCR from MYH6 intron26 to MYH7 exon26 and found an abnormal 1.5K bases PCR product only in the case. Due to high homology of MYH6 and MYH7, Sanger sequencing failed to detect the break point. In LRS, 3 flow cells generated 3.8M base-called reads containing 42G bases with N50 of 13K bases. We used NGMLR, which is a long-read mapper, to align the reads to the human reference genome (hg38). SVs were called by Sniffles detecting all types of SVs. The deletion was found to range from chr14: 23390037 to 23419824 (see figure) and did not contain other SVs. There was no pathogenic SV on ACTC1, GATA4, TBX20 and TLL1 which are genes related to ASD on Genetic Testing Registry. His mother had also ASD and harbored the same deletion. Conclusions This is the first report to identify a large deletion between MYH6 and MYH7 in the family with ASD. The combination of SRS and LRS is useful to detect SVs in patients with suspected inherited diseases but carried no causative SNVs. Funding Acknowledgement Type of funding source: None


1984 ◽  
Vol 81 (3) ◽  
pp. 829-833 ◽  
Author(s):  
L. W. Stanton ◽  
J. Q. Yang ◽  
L. A. Eckhardt ◽  
L. J. Harris ◽  
B. K. Birshtein ◽  
...  

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