scholarly journals A Mother’s Story, Mitogenome Relationships in the Genus Rupicapra

Animals ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 1065
Author(s):  
Laura Iacolina ◽  
Elena Buzan ◽  
Toni Safner ◽  
Nino Bašić ◽  
Urska Geric ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Y Chromosome ◽  
Geographic Distribution ◽  
De Novo ◽  
Conservation Status ◽  
Mitochondrial Genes ◽  
International Union ◽  
Rupicapra Rupicapra ◽  
Chromosome Markers

Although the two species of chamois (Rupicapra rupicapra and R. pyrenaica) are currently classified as least-concern by the IUCN (International Union for Conservation of Nature), inconsistencies on the subspecies classification reported in literature make it challenging to assess the conservation status of the single subspecies. Previous studies relying on mitochondrial genes, sometimes in combination with nuclear or Y-chromosome markers, reported the presence of clusters corresponding to the geographic distribution but highlighting ambiguities in the genus phylogeny. Here we report novel de novo assembled sequences of the mitochondrial genome from nine individuals, including previously unpublished R. r. balcanica and R. r. tatrica subspecies, and use them to untangle the genus phylogeny. Our results based on the full mitogenome inferred phylogeny confirm the previously reported genus subdivision in three clades and its monophyletic positioning within the Caprinae. Phylogeny and taxonomy of Rupicapra species thus remain controversial prompting for the inclusion of archeological remains to solve the controversy.

scholarly journals Mitochondrial genomics of human pathogenic parasiteLeishmania(Viannia)panamensis

PeerJ ◽  
2019 ◽  
Vol 7 ◽  
pp. e7235 ◽  
Author(s):  
Daniel Alfonso Urrea ◽  
Omar Triana-Chavez ◽  
Juan F. Alzate
Keyword(s):  
Comparative Genomics ◽  
Mitochondrial Genome ◽  
South America ◽  
De Novo ◽  
Mitochondrial Genes ◽  
Pathogenic Species ◽  
Mitochondrial Genomics ◽  
Coding Regions ◽  
Human Parasite ◽  
Molecular Parasitology

BackgroundThe human parasiteLeishmania (V.) panamensisis one of the pathogenic species responsible for cutaneous leishmaniasis in Central and South America. Despite its importance in molecular parasitology, its mitochondrial genome, divided into minicircles and maxicircles, haven’t been described so far.MethodsUsing NGS-based sequencing (454 and ILLUMINA), and combiningde novogenome assembly and mapping strategies, we report the maxicircle kDNA annotated genome ofL. (V.) panamensis, the first reference of this molecule for the subgenusViannia. A comparative genomics approach is performed against otherLeishmaniaandTrypanosomaspecies.ResultsThe results show synteny of mitochondrial genes ofL. (V.) panamensiswith other kinetoplastids. It was also possible to identify nucleotide variants within the coding regions of the maxicircle, shared among some of them and others specific to each strain. Furthermore, we compared the minicircles kDNA sequences of two strains and the results show that the conserved and divergent regions of the minicircles exhibit strain-specific associations.

scholarly journals Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Rossana Santiago de Sousa Azulay ◽  
Luís Cristóvão Porto ◽  
Dayse Aparecida Silva ◽  
Maria da Glória Tavares ◽  
Roberta Maria Duailibe Ferreira Reis ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Native American ◽  
Y Chromosome ◽  
Chromosome Analysis ◽  
Brazilian Population ◽  
Genetic Ancestry ◽  
Sample Sizes ◽  
Chromosome Markers ◽  
Hla Genotypes

AbstractThis study aimed to investigate the relationship between genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in patients with Type 1 Diabetes from an admixed Brazilian population. Inference of autosomal ancestry; HLA-DRB1, -DQA1 and -DQB1 typifications; and Y chromosome analysis were performed. European autosomal ancestry was about 50%, followed by approximately 25% of African and Native American. The European Y chromosome was predominant. The HLA-DRB1*03 and DRB1*04 alleles presented risk association with T1D. When the Y chromosome was European, DRB1*03 and DRB1*04 homozygote and DRB1*03/DRB1*04 heterozygote genotypes were the most frequent. The results suggest that individuals from Maranhão have a European origin as their major component; and are patrilineal with greater frequency from the R1b haplogroup. The predominance of the HLA-DRB1*03 and DRB1*04 alleles conferring greater risk in our population and being more frequently related to the ancestry of the European Y chromosome suggests that in our population, the risk of T1D can be transmitted by European ancestors of our process miscegenation. However, the Y sample sizes of Africans and Native Americans were small, and further research should be conducted with large mixed sample sizes to clarify this possible association.

scholarly journals Notes on the threatened lowland forests of Mt Cameroon and their endemics including Drypetes burnleyae sp. nov., with a key to species of Drypetes sect. Stipulares (Putranjivaceae)

Kew Bulletin ◽  
2021 ◽  
Author(s):  
Martin Cheek ◽  
Nouhou Ndam ◽  
Andrew Budden
Keyword(s):  
Conservation Management ◽  
Conservation Status ◽  
Central Africa ◽  
Habitat Destruction ◽  
Coastal Forests ◽  
Key To Species ◽  
International Union ◽  
Species Discovery ◽  
Mount Cameroon ◽  
Lowland Forests

SummaryThis paper reports a further discovery of a new endemic threatened species to science in the context of botanical surveys in the lowland coastal forests of Mount Cameroon in the Cross River-Sanaga interval of west-central Africa. These studies now focus on species discovery and conservation through the Tropical Important Plant Areas programme. New species to science continue to be discovered from Mt Cameroon. Most of these species are rare, highly localised, and threatened by habitat destruction, increasing the justification for improved conservation management of surviving habitat. Drypetes burnleyae is placed in and keyed out in Drypetes sect. Stipulares, a group mostly confined to Lower Guinea, here adjusted to accommodate nine species. The conservation status of Drypetes burnleyae is assessed as Endangered (EN B1+2ab(iii)) according to the 2012 criteria of the International Union for the Conservation of Nature. An updated overview of the plant endemics of Mt Cameroon is presented.

Absence of de novo Y-chromosome microdeletions in male children conceived through intracytoplasmic sperm injection

2004 ◽  
Vol 82 (6) ◽  
pp. 1679-1680 ◽  
Author(s):  
Belén Buch ◽  
José Jorge Galán ◽  
Miguel Lara ◽  
Luis Miguel Real ◽  
Manuel Martínez-Moya ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Intracytoplasmic Sperm Injection ◽  
De Novo ◽  
Y Chromosome Microdeletions

scholarly journals Prenatal diagnosis of a de novo non-fluorescent Y chromosome.

1980 ◽  
Vol 17 (4) ◽  
pp. 314-316 ◽  
Author(s):  
J H Priest ◽  
A T Chen ◽  
P M Fernhoff ◽  
J A Reidy ◽  
C Whitsett
Keyword(s):  
Prenatal Diagnosis ◽  
Y Chromosome ◽  
De Novo

Abstract 17081: End Stage Mitochondrial Cardiomyopathy And Heart Transplantation Due To Pathogenic Biallelic C1QBP Variants

Circulation ◽  
2021 ◽  
Vol 144 (Suppl_2) ◽  
Author(s):  
Nicholas S Wilcox ◽  
Stuart Prenner ◽  
Marisa Cevasco ◽  
Courtney Condit ◽  
Amy Goldstein ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Heart Transplantation ◽  
Genome Sequencing ◽  
Large Scale ◽  
De Novo ◽  
Late Onset ◽  
Genetic Disorder ◽  
Disease Onset ◽  
Serum Lactate ◽  
Metabolic Decompensation

Case Presentation: A 29-year-old male with LVH diagnosed in childhood was admitted with acute HF. TTE showed LVEF 5-10% and LV thrombi for which he was anticoagulated. He received inappropriate ICD shocks due to T wave oversensing, leading to cardiogenic shock requiring VA-ECMO support. Serum lactate peaked at 17 mmol/L due to cardiac and metabolic decompensation. He underwent heart transplantation (HT) on hospital day (HD) 8 and tolerated standard immunosuppression. First endomyocardial biopsy showed acute cellular rejection requiring pulse steroids. He was discharged on HD 33. Trio whole exome and mitochondrial genome sequencing revealed biallelic variants in complement component 1Q subcomponent-binding protein ( C1QBP ), due to a maternally inherited likely pathogenic variant c.612C>G (p.F204L in exon 5) and an apparently de novo deletion of 17p13.2, spanning exons 4-6 of C1QBP and exon 6 of the RPAIN gene. Mitochondrial genome sequencing of the explanted heart revealed multiple large-scale mitochondrial DNA deletions at 33% heteroplasmy. Discussion: C1QBP variants are associated with mitochondrial and multi-organ dysfunction. Only 12 patients exhibiting biallelic C1QBP variants are reported. Four died in the peripartum period due to fetal hydrops or HF; 5 exhibited early-onset cardiomyopathy (CM); 3 others had late-onset ophthalmoplegia without CM. The p.F204L variant has been reported in 1 patient with compound C1QBP p.F204L/p.C186S heterozygosity who died from hydrops fetalis and a second with p.F204L homozygosity with late-onset ophthalmoplegia and skeletal myopathy without CM. Differences in the size, heteroplasmy, and tissue distribution of mitochondrial genome secondary deletions may explain variability in disease onset and progression. We present the first patient with biallelic pathogenic C1QBP gene variants with mitochondrial CM to undergo HT and highlight the diagnosis and management of an exceptionally uncommon genetic disorder.

Mitochondrial genome assembly v1

2020 ◽  
Author(s):  
Graham Etherington
Keyword(s):  
Mitochondrial Genome ◽  
Genome Assembly ◽  
De Novo Assembly ◽  
De Novo ◽  
Mitochondrial Genomes

De novo assembly of 49 mustelid whole mitochondrial genomes

Synopsis of Cnidoscolus (Euphorbiaceae) in midwestern Brazil, including taxonomic updates, a new species, and a reestablishment of C. neglectus

Phytotaxa ◽  
2021 ◽  
Vol 500 (3) ◽  
pp. 179-200
Author(s):  
CELLINI CASTRO DE OLIVEIRA ◽  
ANDRÉ LAURÊNIO DE MELO ◽  
MARCOS JOSÉ DA SILVA
Keyword(s):  
New Species ◽  
Geographic Distribution ◽  
Conservation Status ◽  
Systematic Position ◽  
The Other ◽  
Dichotomous Key ◽  
Distributional Information ◽  
A New Species

A synopsis of the genus Cnidoscolus is presented for the midwestern region of Brazil, which resulted from the analysis of about 1,200 specimens from 62 national and foreign herbaria, including type collections. Observations of populations in field were also made. Nine species are recognized, one of which, C. mcvaughii, is new to science. It is described and illustrated, and comments about its geographic distribution, morphological relationships, systematic position, phenology, and conservation status are provided, as well as images and a map. The other species are contrasted by a dichotomous key. Also, distributional information, maps, conservation evaluations, images and morphologically diagnoses are included. Eight synonymizations, one lectotypification, a neotypifcation, and the re-establishment of C. neglectus are proposed.

Structure of the Plant Mitochondrial Genome and Light-Regulated Transcription of the Mitochondrial Genes

1990 ◽  
pp. 19-22
Author(s):  
R. I. Salganik ◽  
N. A. Dudareva ◽  
A. V. Popovsky ◽  
E. V. Kiseleva ◽  
S. M. Rozov
Keyword(s):  
Mitochondrial Genome ◽  
Mitochondrial Genes ◽  
Plant Mitochondrial Genome
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