Группа авторов

Genotyping by Sequencing for Crop Improvement


Скачать книгу

device loads a few nanoliters of sample product to the prefabricated matrix loaded chip array (384‐pad spectroCHIP) (Oath et al. 2009). The SpectroCHIP is then loaded to the MALDI‐TOF MS analyzer for the analysis.

      2.2.3 Custom Assay Technologies

      Once any significant SNP with a vital role in gene regulation, phenotype change, disease response, and so on is discovered, the next step is to validate it in a larger population. Arrays designed with few vital SNPs, mainly for validation purposes are called custom‐designed SNP assays. These assays must meet at least majority of the following criteria:

      1 should be able to analyze large amounts of samples quickly,

      2 should have a high design to assay conversion rate for custom SNPs, and

      3 should be reliable and cost‐effective.

      To achieve these requirements, these technologies have incorporated a variety of sophisticated molecular biology techniques. The advantage of customized array is that SNPs from genomic regions of interest can be specifically added to the array and the number of interested SNPs to be fabricated on the array can be adjusted to the customer's needs. Customized SNP array cost per sample is low to moderate approximately $28–$90 (USD) while the NGS method have approximately $35 per sample price for GBS (Peng et al. 2017) which will increase drastically from diploid to polyploid as much higher coverage is required for accurate SNP calling. The major disadvantage of customized SNP array is that it requires prior genomic information and location (Vos et al. 2015). Furthermore, its design and further optimization can take a long time. Another issue is that SNP discovery requires fewer samples, which will primarily remove rare alleles while capturing common alleles (Gravel et al. 2011).

      2.2.4 Summary

      SNPs constitute one of the most popular and significant genetic markers in studying disease development and progression, breeding crops for improved traits etc. Two major strategies are involved in SNP genotyping viz. allele discrimination and allele detection. The high‐throughput platforms used for SNP genotyping have generated huge amount of data in many crops. Further utilization of this information in plant breeding is important for crop improvement.

      1 Baird, N.A., Etter, P.D., Atwood, T.S. et al. (2008). Rapid SNP discovery and genetic mapping using sequenced RAD markers. PLoS One 3 (10): e3376.

      2 Baner, J., Nilsson, M., Mendel‐Hartvig, M. et al. (1998). Signal amplification of padlock probes by rolling circle replication. Nucleic Acids Research 26 (22): 5073–5078.

      3 Bayer, M.M., Rapazote‐Flores, P., Ganal, M. et al. (2017). Development and evaluation of a barley 50k iSelect SNP array. Frontiers in Plant Science 8: 1792.

      4 Bianco, L., Cestaro, A., Linsmith, G. et al. (2016). Development and validation of the Axiom® Apple480K SNP genotyping array. Plant Journal 86: 62–74. https://doi.org/10.1111/tpj.13145.

      5 Branton, D., Deamer, D.W., Marziali, A. et al. (2010). The potential and challenges of nanopore sequencing. Nanoscience and Technology: A Collection of Reviews from Nature Journals: 261–268.

      6 Chagné, D., Crowhurst, R.N., Troggio, M. et al. (2012). Genome‐wide SNP detection, validation, and development of an 8K SNP array for apple. PLoS One 7: e31745. https://doi.org/10.1371/journal.pone.0031745.

      7 Chan, M., Chan, M.W., Loh, T.W. et al. (2011). Evaluation of nanofluidics technology for highthroughput SNP genotyping in a clinical setting. The Journal of Molecular Diagnostics 13 (3): 305–312. https://doi.org/10.1016/j.jmoldx.2010.12.001.

      8 Chen, X., Levine, L., and Kwok, P.Y. (1999). Fluorescence polarization in homogeneous nucleic acid analysis. Genome Research 9 (5): 492–498.

      9 Eid, J., Fehr, A., Gray, J. et al. (2009). Real‐time DNA sequencing from single polymerase molecules. Science 323 (5910): 133–138.

      10 Elshire, R.J., Glaubitz, J.C., Sun, Q. et al. (2011). A robust, simple genotyping‐by‐sequencing (GBS) approach for high diversity species. PLoS One 6 (5): e19379.

      11 Gravel, S., Henn, B.M., Gutenkunst, R.N. et al. (2011). Demographic history and rare allele sharing among human populations. Proceedings. National Academy of Sciences. United States of America 108: 11983–11988. https://doi.org/10.1073/pnas.1019276108.

      12 Kennedy, G.C., Matsuzaki, H., Dong, S. et al. (2003). Large‐scale genotyping of complex DNA. Nature Biotechnology 21: 10.

      13 Khlestkin, V.K., Rozanova, I.V., Efimov, V.M. et al. (2019). Starch phosphorylation associated SNPs found by genome‐wide association studies in the potato (Solanum tuberosum L.). BMC Genetics 20 (1): 45–53.

      14 Kishora, D.S., Songa, W.‐H., Noha, Y. et al. (2020). Development of SNP markers and validation assays in commercial Korean melon cultivars, using genotyping‐by‐sequencing and Fluidigm analyses. Scientia Horticulturae 263: 109113.

      15 Kumar, N.M., Katageri, I.S., Gowda, S.A. et al. (2019). 63K SNP chip based linkage mapping and QTL analysis for fibre quality and yield component traits in Gossypium barbadense L. cotton. Euphytica 215 (1): 1–16.

      16 LaFramboise, T. (2009). Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances. Nucleic Acids Research 37 (13): 4181–4193.

      17 Li, Y., Haseneyer, G., Schön, C.C. et al. (2011). High levels of nucleotide diversity and fast decline of linkage disequilibrium in rye (Secale cereale L.) genes involved in frost response. BMC Plant Biology 11: 6.

      18 Li, X., Singh, J., Qin, M. et al. (2019). Development of an integrated 200K SNP genotyping array and application for genetic mapping, genome assembly improvement and genome wide association studies in pear (Pyrus). Plant Biotechnology Journal 17 (8): 1582–1594.

      19 Livak, K.J. (1999). Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genetic Analysis ‐ Biomolecular Engineering 14 (5‐6): 143–149.

      20 Lyamichev, V., Mast, A.L., Hall, J.G. et al. (1999). Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes. Nature Biotechnology 17 (3): 292–296.

      21 Marrano, A., Martínez‐García, P.J., Bianco, L. et al. (2019). A new genomic tool for walnut (Juglans regia L.): development and validation of the high‐density Axiom™ J. regia 700K SNP genotyping array. Plant Biotechnology Journal 17 (6): 1027–1036.

      22 Matsuzaki, H., Dong, S., Loi, H. et al. (2004). Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nature Biotechnology 21: 10.

      23 McCouch, S.R., Wright, M.H., Tung, C.W. et al. (2016). Open access resources for genome‐wide association mapping in rice. Nature Communications 7 (1): 1–14.

      24 McCouch, S.R., Wright, M.H., Tung, C.‐W. et al. (2017). Open access resources for genome‐wide association mapping in rice. Nature Communications 7: 10532. https://doi.org/10.1038/ncomms10532.

      25 McCoy, R.C., Taylor, R.W., Blauwkamp, T.A. et al. (2014). Illumina TruSeq synthetic long‐reads empower de novo assembly and resolve complex, highly‐repetitive transposable elements. PLoS One 9 (9): e106689.

      26 Montanari, S., Bianco, L., Allen, B.J. et al. (2019). Development of a highly efficient Axiom™ 70 K SNP array for Pyrus and evaluation for high‐density mapping and germplasm characterization. BMC Genomics 20 (1): 1–18.

      27 Nilsson, M., Malmgren, H., Samiotaki, M. et al. (1994). Padlock probes: circularizing oligonucleotides for localized DNA detection. Science 265 (5181): 2085–2088.

      28 Oath,