Dynamic Chloroplast Genome Rearrangement and DNA Barcoding for Three Apiaceae Species Known as the Medicinal Herb “Bang-Poong”

Three Apiaceae species Ledebouriella seseloides, Peucedanum japonicum, and Glehnia littoralis are used as Asian herbal medicines, with the confusingly similar common name “Bang-poong”. We characterized the complete chloroplast (cp) genomes and 45S nuclear ribosomal DNA (45S nrDNA) sequences of two accessions for each species. The complete cp genomes of G. littoralis, L. seseloides, and P. japonicum were 147,467, 147,830, and 164,633 bp, respectively. Compared to the other species, the P. japonicum cp genome had a huge inverted repeat expansion and a segmental inversion. The 45S nrDNA cistron sequences of the three species were almost identical in size and structure. Despite the structural variation in the P. japonicum cp genome, phylogenetic analysis revealed that G. littoralis diverged 5–6 million years ago (Mya), while P. japonicum diverged from L. seseloides only 2–3 Mya. Abundant copy number variations including tandem repeats, insertion/deletions, and single nucleotide polymorphisms, were found at the interspecies level. Intraspecies-level polymorphism was also found for L. seseloides and G. littoralis. We developed nine PCR barcode markers to authenticate all three species. This study characterizes the genomic differences between L. seseloides, P. japonicum, and G. littoralis; provides a method of species identification; and sheds light on the evolutionary history of these three species.

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A computational analysis of the genetic and transcript diversity at the kallikrein locus

Biological Chemistry ◽

10.1515/hsz-2016-0161 ◽

2016 ◽

Vol 397 (12) ◽

pp. 1307-1313 ◽

Cited By ~ 2

Author(s):

John Lai ◽

Jiyuan An ◽

Srilakshmi Srinivasan ◽

Judith A. Clements ◽

Jyotsna Batra

Keyword(s):

Genetic Variants ◽

Tandem Repeats ◽

Copy Number Variations ◽

Genome Project ◽

Nucleotide Polymorphisms ◽

Data Set ◽

Single Nucleotide ◽

Fusion Transcripts ◽

Wide Range ◽

Transcript Diversity

Abstract The kallikrein related peptidase gene family (KLKs) comprises 15 genes located between 19q13.3-13.4. KLKs have chymotrypsin and/or trypsin like activity, but the tissue/organ expression profile of each KLK varies considerably. Thus, the role of KLKs in human biology is also very diverse, and the deregulation of their function results in a wide-range of diseases. Here, we have cataloged the transcript (variants and fusions) and genetic (single nucleotide polymorphisms, small insertions/deletions, copy number variations (CNVs), and short tandem repeats) diversity at the KLK locus, providing a data set for researchers to explore the mechanisms through which KLK function may be deregulated. We reveal that the KLK locus hosts 85 fusion transcripts, and 80 variant transcripts. Interestingly, some fusion transcripts comprise up to 6 KLK genes. Our analysis of genetic variations of 2504 individuals from the 1000 Genome Project indicated that the KLK locus is rich in genetic diversity, with some fusion transcripts harboring over 1000 single nucleotide variations. We also found evidence from the literature linking 2387 KLK genetic variants with many types of diseases. Finally, genotyping data from the 131 KLK genetic variants in the NCI-60 cancer cell lines is provided as a resource for the cancer and KLK field.

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Different Within-Host Viral Evolution Dynamics in Severely Immunosuppressed Cases with Persistent SARS-CoV-2

Biomedicines ◽

10.3390/biomedicines9070808 ◽

2021 ◽

Vol 9 (7) ◽

pp. 808

Author(s):

Laura Pérez-Lago ◽

Teresa Aldámiz-Echevarría ◽

Rita García-Martínez ◽

Leire Pérez-Latorre ◽

Marta Herranz ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Evolutionary Dynamics ◽

Viral Evolution ◽

Special Focus ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

New Variant ◽

History Of ◽

Evolution Dynamics ◽

The Uk

A successful Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) variant, B.1.1.7, has recently been reported in the UK, causing global alarm. Most likely, the new variant emerged in a persistently infected patient, justifying a special focus on these cases. Our aim in this study was to explore certain clinical profiles involving severe immunosuppression that may help explain the prolonged persistence of viable viruses. We present three severely immunosuppressed cases (A, B, and C) with a history of lymphoma and prolonged SARS-CoV-2 shedding (2, 4, and 6 months), two of whom finally died. Whole-genome sequencing of 9 and 10 specimens from Cases A and B revealed extensive within-patient acquisition of diversity, 12 and 28 new single nucleotide polymorphisms, respectively, which suggests ongoing SARS-CoV-2 replication. This diversity was not observed for Case C after analysing 5 sequential nasopharyngeal specimens and one plasma specimen, and was only observed in one bronchoaspirate specimen, although viral viability was still considered based on constant low Ct values throughout the disease and recovery of the virus in cell cultures. The acquired viral diversity in Cases A and B followed different dynamics. For Case A, new single nucleotide polymorphisms were quickly fixed (13–15 days) after emerging as minority variants, while for Case B, higher diversity was observed at a slower emergence: fixation pace (1–2 months). Slower SARS-CoV-2 evolutionary pace was observed for Case A following the administration of hyperimmune plasma. This work adds knowledge on SARS-CoV-2 prolonged shedding in severely immunocompromised patients and demonstrates viral viability, noteworthy acquired intra-patient diversity, and different SARS-CoV-2 evolutionary dynamics in persistent cases.

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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

Human Genetics ◽

10.1007/s00439-018-1910-3 ◽

2018 ◽

Vol 137 (6-7) ◽

pp. 553-567 ◽

Cited By ~ 19

Author(s):

Jiaqi Liu ◽

◽

Yangzhong Zhou ◽

Sen Liu ◽

Xiaofei Song ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Copy Number ◽

Copy Number Variations ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

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Genetic Reconstruction and Forensic Analysis of Chinese Shandong and Yunnan Han Populations by Co-Analyzing Y Chromosomal STRs and SNPs

Genes ◽

10.3390/genes11070743 ◽

2020 ◽

Vol 11 (7) ◽

pp. 743

Author(s):

Caiyong Yin ◽

Kaiyuan Su ◽

Ziwei He ◽

Dian Zhai ◽

Kejian Guo ◽

...

Keyword(s):

Tandem Repeats ◽

Forensic Analysis ◽

Copy Number Variations ◽

Null Alleles ◽

Nucleotide Polymorphisms ◽

Evolutionary Pathway ◽

Individual Level ◽

Population Comparisons ◽

Heated Debate ◽

The Individual

Y chromosomal short tandem repeats (Y-STRs) have been widely harnessed for forensic applications, such as pedigree source searching from public security databases and male identification from male–female mixed samples. For various populations, databases composed of Y-STR haplotypes have been built to provide investigating leads for solving difficult or cold cases. Recently, the supplementary application of Y chromosomal haplogroup-determining single-nucleotide polymorphisms (SNPs) for forensic purposes was under heated debate. This study provides Y-STR haplotypes for 27 markers typed by the Yfiler™ Plus kit and Y-SNP haplogroups defined by 24 loci within the Y-SNP Pedigree Tagging System for Shandong Han (n = 305) and Yunnan Han (n = 565) populations. The genetic backgrounds of these two populations were explicitly characterized by the analysis of molecular variance (AMOVA) and multi-dimensional scaling (MDS) plots based on 27 Y-STRs. Then, population comparisons were conducted by observing Y-SNP allelic frequencies and Y-SNP haplogroups distribution, estimating forensic parameters, and depicting distribution spectrums of Y-STR alleles in sub-haplogroups. The Y-STR variants, including null alleles, intermedia alleles, and copy number variations (CNVs), were co-listed, and a strong correlation between Y-STR allele variants (“DYS518~.2” alleles) and the Y-SNP haplogroup QR-M45 was observed. A network was reconstructed to illustrate the evolutionary pathway and to figure out the ancestral mutation event. Also, a phylogenetic tree on the individual level was constructed to observe the relevance of the Y-STR haplotypes to the Y-SNP haplogroups. This study provides the evidence that basic genetic backgrounds, which were revealed by both Y-STR and Y-SNP loci, would be useful for uncovering detailed population differences and, more importantly, demonstrates the contributing role of Y-SNPs in population differentiation and male pedigree discrimination.

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Early diversification and permeable species boundaries in the Mediterranean firs

Annals of Botany ◽

10.1093/aob/mcz186 ◽

2019 ◽

Vol 125 (3) ◽

pp. 495-507 ◽

Cited By ~ 2

Author(s):

Francisco Balao ◽

María Teresa Lorenzo ◽

José Manuel Sánchez-Robles ◽

Ovidiu Paun ◽

Juan Luis García-Castaño ◽

...

Keyword(s):

Phylogenetic Relationships ◽

Evolutionary History ◽

Taxonomic Status ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Early Diversification ◽

Genome Wide ◽

History Of ◽

The Mediterranean ◽

Independent Species

Abstract Background and Aims Inferring the evolutionary relationships of species and their boundaries is critical in order to understand patterns of diversification and their historical drivers. Despite Abies (Pinaceae) being the second most diverse group of conifers, the evolutionary history of Circum-Mediterranean firs (CMFs) remains under debate. Methods We used restriction site-associated DNA sequencing (RAD-seq) on all proposed CMF taxa to investigate their phylogenetic relationships and taxonomic status. Key Results Based on thousands of genome-wide single nucleotide polymorphisms (SNPs), we present here the first formal test of species delimitation, and the first fully resolved, complete species tree for CMFs. We discovered that all previously recognized taxa in the Mediterranean should be treated as independent species, with the exception of Abies tazaotana and Abies marocana. An unexpectedly early pulse of speciation in the Oligocene–Miocene boundary is here documented for the group, pre-dating previous hypotheses by millions of years, revealing a complex evolutionary history encompassing both ancient and recent gene flow between distant lineages. Conclusions Our phylogenomic results contribute to shed light on conifers’ diversification. Our efforts to resolve the CMF phylogenetic relationships help refine their taxonomy and our knowledge of their evolution.

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Impacts of Marker Class Bias Relative to Locus-Specific Variability on Population Inferences in Chinook Salmon: A Comparison of Single-Nucleotide Polymorphisms with Short Tandem Repeats and Allozymes

Transactions of the American Fisheries Society ◽

10.1577/t06-227.1 ◽

2007 ◽

Vol 136 (6) ◽

pp. 1674-1687 ◽

Cited By ~ 35

Author(s):

Christian T. Smith ◽

Anton Antonovich ◽

William D. Templin ◽

Carita M. Elfstrom ◽

Shawn R. Narum ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Chinook Salmon ◽

Short Tandem Repeats ◽

Tandem Repeats ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Class Bias ◽

Marker Class ◽

Short Tandem

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Chloroplast genomes elucidate diversity, phylogeny, and taxonomy of Pulsatilla (Ranunculaceae)

Scientific Reports ◽

10.1038/s41598-020-76699-7 ◽

2020 ◽

Vol 10 (1) ◽

Author(s):

Qiu-jie Li ◽

Na Su ◽

Ling Zhang ◽

Ru-chang Tong ◽

Xiao-hui Zhang ◽

...

Keyword(s):

Molecular Markers ◽

Phylogenetic Trees ◽

Phylogenetic Signal ◽

Data Sets ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Variable Regions ◽

Chloroplast Genomes ◽

Medicinal Value ◽

Cp Genome

AbstractPulsatilla (Ranunculaceae) consists of about 40 species, and many of them have horticultural and/or medicinal value. However, it is difficult to recognize and identify wild Pulsatilla species. Universal molecular markers have been used to identify these species, but insufficient phylogenetic signal was available. Here, we compared the complete chloroplast genomes of seven Pulsatilla species. The chloroplast genomes of Pulsatilla were very similar and their length ranges from 161,501 to 162,669 bp. Eight highly variable regions and potential sources of molecular markers such as simple sequence repeats, large repeat sequences, and single nucleotide polymorphisms were identified, which are valuable for studies of infra- and inter-specific genetic diversity. The SNP number differentiating any two Pulsatilla chloroplast genomes ranged from 112 to 1214, and provided sufficient data for species delimitation. Phylogenetic trees based on different data sets were consistent with one another, with the IR, SSC regions and the barcode combination rbcL + matK + trnH-psbA produced slightly different results. Phylogenetic relationships within Pulsatilla were certainly resolved using the complete cp genome sequences. Overall, this study provides plentiful chloroplast genomic resources, which will be helpful to identify members of this taxonomically challenging group in further investigation.

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Evidence GDF15 Plays a Role in Familial and Recurrent Hyperemesis Gravidarum

Geburtshilfe und Frauenheilkunde ◽

10.1055/a-0661-0287 ◽

2018 ◽

Vol 78 (09) ◽

pp. 866-870 ◽

Cited By ~ 6

Author(s):

Marlena Fejzo ◽

Daria Arzy ◽

Rayna Tian ◽

Kimber MacGibbon ◽

Patrick Mullin

Keyword(s):

Genome Wide Association Study ◽

Risk Allele ◽

Hyperemesis Gravidarum ◽

Nucleotide Polymorphisms ◽

Sequencing Data ◽

Severe Nausea ◽

Single Nucleotide ◽

Genome Wide ◽

History Of ◽

Study Support

Abstract Introduction Hyperemesis gravidarum (HG), a pregnancy complication characterized by severe nausea and vomiting in pregnancy, occurs in up to 2% of pregnancies. It is associated with both maternal and fetal morbidity. HG is highly heritable and recurs in approximately 80% of women. In a recent genome-wide association study, it was shown that placentation, appetite, and the cachexia gene GDF15 are linked to HG. The purpose of this study was to explore whether GDF15 alleles linked to overexpression of GDF15 protein segregate with the condition in families, and whether the GDF15 risk allele is associated with recurrence of HG. Methods We analyzed GDF15 overexpression alleles for segregation with disease using exome-sequencing data from 5 HG families. We compared the allele frequency of the GDF15 risk allele, rs16982345, in patients who had recurrence of HG with its frequency in those who did not have recurrence. Results Single nucleotide polymorphisms (SNPs) linked to higher levels of GDF15 segregated with disease in HG families. The GDF15 risk allele, rs16982345, was associated with an 8-fold higher risk of recurrence of HG. Conclusion The findings of this study support the hypothesis that GDF15 is involved in the pathogenesis of both familial and recurrent cases of HG. The findings may be applicable when counseling women with a familial history of HG or recurrent HG. The GDF15-GFRAL brainstem-activated pathway was recently identified and therapies to treat conditions of abnormal appetite are under development. Based on our findings, patients carrying GDF15 variants associated with GDF15 overexpression should be included in future studies of GDF15-GFRAL-based therapeutics. If safe, this approach could reduce maternal and fetal morbidity.

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