Characterization of single-nucleotide polymorphisms in coding regions of human genes

10.1038/10290 ◽  
1999 ◽  
Vol 22 (3) ◽  
pp. 231-238 ◽  
Author(s):  
Michele Cargill ◽  
David Altshuler ◽  
James Ireland ◽  
Pamela Sklar ◽  
Kristin Ardlie ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Human Genes

scholarly journals Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes

2002 ◽  
Vol 2 (4) ◽  
pp. 236-242 ◽  
Author(s):  
G Hu ◽  
B Modreck ◽  
H M F Riise Stensland ◽  
J Saarela ◽  
P Pajukanta ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Human Genes

scholarly journals Genotipado por secuenciación de variedades tradicionales de Theobroma cacao (Malvaceae) del Estado de Tabasco, México

2019 ◽  
Vol 97 (3) ◽  
pp. 381
Author(s):  
Jorge Ricaño-Rodríguez ◽  
Enrique Hipólito-Romero ◽  
José M. Ramos-Prado ◽  
Eliezer Cocoletzi-Vásquez
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Theobroma Cacao ◽  
Genotyping By Sequencing ◽  
Restriction Enzymes ◽  
Nucleotide Polymorphisms ◽  
Minimum Evolution ◽  
Single Nucleotide ◽  
Coding Regions ◽  
Traditional Agroforestry

<p><strong>Background:</strong> Single nucleotide polymorphisms (SNPs) have been identified in <em>Theobroma cacao</em> through a genotyping-by-sequencing approach. Through this research it is shared for the first time a set of results related to genetic variability and nature of conserved coding regions of reduced nucleotide sequences of mexican native varieties of cocoa.</p><p><strong>Hypothesis:</strong> Obtaining reduced genomes of <em>T. cacao</em> specimens by restriction enzymes (REs) allows the characterization of single nucleotide polymorphisms (SNPs) as well as conserved coding regions (CDs).</p><p><strong>Species of study and dates:</strong> <em>Theobroma cacao </em>L. (Malvaceae)</p><p>Study site: <em>Theobroma cacao</em> twigs came from traditional agroforestry plots located in the municipalities of Cardenas, Huimanguillo, Comalcalco, Paraiso, Jalpa de Mendez and Cunduacan, Tabasco, as well as Ixtacomitan and Pichucalco, Chiapas, Mexico; and they were collected and grafted among May and June from 2018.</p><p><strong>Methods:</strong> A method of genotyping-by-sequencing for the characterization of biobanks was developed. Filtering of crude sequences, genomic assembly, identification of SNPs, taxonomic molecular characterization and characterization of coding regions as well as minimum evolution of protein transcripts were performed.</p><p><strong>Results:</strong> <em>Theobroma cacao</em> samples showed different SNPs percentages (2 – 11 %) and the molecular evolution analyzes suggested similar maximum compound probabilities respect to their phylogeny. Conserved sequences were observed in the genomes´ coding regions, which suggest heuristic ontological predictions that have been evolutionarily regrouped in five clusters related to transcription processes and secondary metabolism.</p><strong>Conclusions:</strong> The GBS method allows to identify SNPs in cocoa. The characterization of reduced genomes determined the structural and transcriptional correlation between the samples and the reference genome of cacao Criollo.

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