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DNA, Volume 3, Issue 4 (December 2023) – 3 articles

Cover Story (view full-size image): The mummy of a seven-year-old child, who was discovered in 1985 in Cerro Aconcagua (Mendoza, Argentina), was likely part of an Inka sacrificial religious practice known as capacocha. In this study, we aimed to determine possible genealogical connections in the male lineage of the mummified child. To achieve this, we compared the genetic profile of the mummy with an extensive database of contemporary individuals from the northern Peruvian coastal and southern Andean regions. For our analysis, we used single nucleotide polymorphisms and short tandem repeats from the nonrecombining region of the Y-chromosome. Our results confirmed that the Inka child mummy was closely related to individuals from the north coast of Peru. This suggests that the child was likely descended from the Muchik–Chimor-speaking people. View this paper
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18 pages, 2685 KiB  
Article
Expression of Cowpea VuWRKY21 and VuWRKY87 Genes in Arabidopsis thaliana Confers Plant Tolerance to Salt Stress
by Joelson Germano Crispim, Elenilson dos Santos Souza, Marina Ferreira Kitazono Antunes, Hai Liu, Valesca Pandolfi, Marciana Bizerra de Morais, Lili Sun, Cláudia Ulisses, Roel Collamat Rabara, José Ribamar Costa Ferreira-Neto, Ana Maria Benko-Iseppon, Michael P. Timko and Ana Christina Brasileiro-Vidal
DNA 2023, 3(4), 168-185; https://doi.org/10.3390/dna3040014 - 8 Nov 2023
Viewed by 1347
Abstract
WRKY transcription factors play a pivotal role in regulating stress signaling pathways, including those associated with salt stress response. The present work characterized the effects of two WRKY genes from Vigna unguiculata, namely VuWRKY21 and VuWRKY87, on enhancing plant salinity tolerance. [...] Read more.
WRKY transcription factors play a pivotal role in regulating stress signaling pathways, including those associated with salt stress response. The present work characterized the effects of two WRKY genes from Vigna unguiculata, namely VuWRKY21 and VuWRKY87, on enhancing plant salinity tolerance. Under salt stress conditions, Arabidopsis lines expressing VuWRKY21 or VuWRKY87 showed elevated expression of genes participating in saline stress response pathways and reduced oxidative stress induced by reactive oxygen species (ROS). Among the salt-responsive genes in Arabidopsis, AtP5CS1, AtNHX1, AtRD29A, AtSOS3, AtSOS2, and AtSOS1 exhibited modulated expression levels after stress imposition. Furthermore, compared to wild-type plants, at most evaluated times, transgenic lines, on average, presented lower H2O2 content while displaying higher content of SOD (EC: 1.15.1.1) and CAT (EC: 1.11.1.6) at early stages of salt stress. These findings suggest that the expression of both VuWRKY genes in Arabidopsis, particularly VuWRKY21, activated genes involved in salinity tolerance. Full article
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20 pages, 2024 KiB  
Article
Genetic Insights into Teratozoospermia: A Comprehensive Computational Study of UTR Variants in AURKC, SPATA16, and SUN5
by Maria-Anna Kyrgiafini and Zissis Mamuris
DNA 2023, 3(4), 148-167; https://doi.org/10.3390/dna3040013 - 26 Oct 2023
Viewed by 1589
Abstract
Teratozoospermia, a complex male fertility disorder affecting sperm morphology, has been linked to AURKC, SPATA16, and SUN5 gene defects. However, the sheer volume of SNPs in these genes necessitates prioritization for comprehensive analysis. This study focuses on the often-overlooked untranslated region [...] Read more.
Teratozoospermia, a complex male fertility disorder affecting sperm morphology, has been linked to AURKC, SPATA16, and SUN5 gene defects. However, the sheer volume of SNPs in these genes necessitates prioritization for comprehensive analysis. This study focuses on the often-overlooked untranslated region (UTR) variants in these genes, aiming to assess their association with teratozoospermia and prioritize them. We employed a multi-step filtering process, including functional significance assessment (RegulomeDB, 3DSNP v2.0, SNPinfo (FuncPred)), evaluation of gene expression impacts in testis tissue using GTEx, and assessment of miRNA binding site effects (PolymiRTS Database 3.0, miRNASNP v3). Additionally, we used SNPnexus to evaluate their conservation and association with diseases. In AURKC, we identified six UTR SNPs (rs11084490, rs58264281, rs35582299, rs533889458, rs2361127, rs55710619), two of which influenced gene expression in testis, while others affected the binding sites of 29 miRNAs or were located in transcription-factor binding sites. Three of these SNPs were also found to be associated with spermatogenic failure according to previous studies indicating a potential regulatory role in teratozoospermia, too. For SPATA16, two 3′ UTR variants, rs146640459 and rs148085657, were prioritized, with the latter impacting miRNA binding sites. In SUN5, three 3′ UTR variants (rs1485087675, rs762026146, rs1478197315) affected miRNA binding sites. It should be noted that none of the above variants was identified in a conserved region. Our findings shed light on the potential regulatory roles of these SNPs in teratozoospermia and lay the foundation for future research directions in this area. Full article
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11 pages, 1152 KiB  
Article
Inka Child Mummy Found in Cerro Aconcagua (Argentina) Traced Back to Populations of the Northern Peruvian Coast through Y-Chromosome Analysis
by José R. Sandoval, Ricardo Fujita, Marilza S. Jota, Thomaz Pinotti and Fabrício R. Santos
DNA 2023, 3(4), 137-147; https://doi.org/10.3390/dna3040012 - 11 Oct 2023
Viewed by 1930
Abstract
The mummy of a seven-year-old child that was discovered in 1985 in Cerro Aconcagua (Mendoza, Argentina) was likely part of an Inka sacrificial religious practice known as capacocha. Previous uniparental DNA marker studies conducted by some scholars have suggested that the mummified [...] Read more.
The mummy of a seven-year-old child that was discovered in 1985 in Cerro Aconcagua (Mendoza, Argentina) was likely part of an Inka sacrificial religious practice known as capacocha. Previous uniparental DNA marker studies conducted by some scholars have suggested that the mummified child may be related to the southern Andean population of Peru. However, autosome genome-wide analysis performed by others has indicated that the child was more closely related to the population along the northern Peruvian coast than to that of the southern Andes. In this study, we aimed to determine possible genealogical connections in the male lineage of the mummified child. To achieve this, we compared the genetic profile of the mummy with an extensive database of contemporary individuals from the northern Peruvian coastal and southern Andean regions. We used single nucleotide polymorphisms and short tandem repeats from the nonrecombining region of the Y-chromosome for our analysis. Our results confirmed that the Inka child mummy was closely related to individuals from the north coast of Peru. This suggests that the child was likely descended from the Muchik–Chimor-speaking people. Full article
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