scholarly journals The Neandertal Progesterone Receptor

2020 ◽  
Vol 37 (9) ◽  
pp. 2655-2660 ◽  
Author(s):  
Hugo Zeberg ◽  
Janet Kelso ◽  
Svante Pääbo
Keyword(s):  
Progesterone Receptor ◽  
High Frequency ◽  
Human Population ◽  
Modern Human ◽  
The Other ◽  
Human Populations ◽  
Gene Variants ◽  
Gene Encoding ◽  
Alu Insertion ◽  
Alu Element

Abstract The hormone progesterone is important for preparing the uterine lining for egg implantation and for maintaining the early stages of pregnancy. The gene encoding the progesterone receptor (PGR) carries introgressed Neandertal haplotypes with two missense substitutions and a mobile Alu element. These Neandertal gene variants have reached nearly 20% frequency in non-Africans and have been associated with preterm birth. Here, we show that one of the missense substitutions appears fixed in Neandertals, while the other substitution as well as the Alu insertion were polymorphic among Neandertals. We show that two Neandertal haplotypes carrying the PGR gene entered the modern human population and that present-day carriers of the Neandertal haplotypes express higher levels of the receptor. In a cohort of present-day Britons, these carriers have more siblings, fewer miscarriages, and less bleeding during early pregnancy suggesting that the Neandertal progesterone receptor alleles promote fertility. This may explain their high frequency in modern human populations.

scholarly journals Presence of 15p Marker D15Z1 on the Short Arm of Acrocentric Chromosomes is Associated with Aneuploid Offspring in Mexican Couples

2019 ◽  
Vol 20 (21) ◽  
pp. 5251 ◽  
Author(s):  
Sandra Ramos ◽  
Rebeca Rodríguez ◽  
Oscar Castro ◽  
Patricia Grether ◽  
Bertha Molina ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
High Frequency ◽  
Trisomy 21 ◽  
Mexican Population ◽  
The Other ◽  
Human Populations ◽  
Nucleolar Organization ◽  
Acrocentric Chromosomes

Variation in the location of the 15p region D15Z1 is recognized as a polymorphism in several human populations. We used high-stringency Fluorescence In Situ Hybridization (FISH) to detect D15Z1 in a Mexican cohort. Here, we report the presence of extra D15Z1 sequences on the p-arm of acrocentric chromosomes other than 15 in two groups of Mexican couples, one with healthy offspring (n = 75) and the other with aneuploid offspring (n = 87), mainly trisomy 21. The additional D15Z1 polymorphism was significantly increased in individuals with aneuploid offspring (26.4%), in comparison to individuals with healthy offspring (14%). The most frequent acceptor chromosome of D15Z1 was chromosome 13p, followed by 14p, and finally, 21p. Our results show an overall frequency of 21.6% of this polymorphism in the Mexican population and suggest that its presence might be associated with the mis-segregation of other acrocentric chromosomes and aneuploid offspring. The high frequency of the polymorphism of the D15Z1 sequence on acrocentric chromosomes other than 15 suggests a sequence homogenization of the acrocentric p arms, related to the important function of the centromere and the nucleolar organization region, which flank satellite III DNA.

scholarly journals The PROGINS polymorphism of the human progesterone receptor diminishes the response to progesterone

2007 ◽  
Vol 38 (2) ◽  
pp. 331-350 ◽  
Author(s):  
Andrea Romano ◽  
Bert Delvoux ◽  
Dagmar-Christiane Fischer ◽  
Patrick Groothuis
Keyword(s):  
Progesterone Receptor ◽  
Splice Variants ◽  
Luciferase Reporter ◽  
Gene Transcript ◽  
Reporter System ◽  
Protein Activity ◽  
Alu Insertion ◽  
Alu Element ◽  
Exon 4 ◽  
Human Progesterone Receptor

The human progesterone receptor (PR) is a ligand-dependent transcription factor and two isoforms, (PRA and PRB), can be distinguished. PROGINS, a PR polymorphic variant, affects PRA and PRB and acts as a risk-modulating factor in several gynaecological disorders. Little is known about the functional consequences of this variant. Here, we characterise the properties of PROGINS with respect to transcription, mRNA maturation, protein activity and proliferation. PROGINS is characterised by a 320 bp PV/HS-1 Alu insertion in intron G and two point mutations, V660L in exon 4 and H770H (silent substitution) in exon 5. The Alu element contains a half oestrogen-response element/Sp1-binding site (Alu-ERE/Sp1), which acts as an in-cis intronic enhancer leading to increased transcription of the PROGINS allele in response to 17β-oestradiol. Moreover, Alu insertions in the human genome are frequently methylated. Our data indicate that the PROGINS-Alu does not affect gene transcription due to DNA methylation. However, the Alu element reduced the stability of the PROGINS transcript compared with the CP allele and does not generate splice variants. The amino acid substitution (V600L) in exon 4 leads to differences in PR phosphorylation and degradation in the two PR variants upon ligand binding, most likely as a result of differences in the three-dimensional structures of the two PR variants. As a consequence, the PR-L660 (PROGINS) variant (1) displays decreased transactivation activity in a luciferase reporter system and (2) is less efficient in opposing cell proliferation in hamster ovarian cells expressing human PRA, when compared with the PR-V660 (most common variant). Taken together, our results indicate that the PROGINS variant of PR is less responsive to progestin compared with the most common PR because of (i) reduced amounts of gene transcript and (ii) decreased protein activity.

scholarly journals Chance or Necessity—The Fungi Co−Occurring with Formica polyctena Ants

Insects ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 204
Author(s):  
Igor Siedlecki ◽  
Michał Gorczak ◽  
Alicja Okrasińska ◽  
Marta Wrzosek
Keyword(s):  
Molecular Identification ◽  
High Frequency ◽  
Its Rdna ◽  
The Other ◽  
Formica Polyctena ◽  
Ant Nests ◽  
Mutualistic Fungi ◽  
The Tropics ◽  
High Diversity ◽  
Better Than

Studies on carton nesting ants and domatia−dwelling ants have shown that ant–fungi interactions may be much more common and widespread than previously thought. Until now, studies focused predominantly on parasitic and mutualistic fungi–ant interactions occurring mostly in the tropics, neglecting less−obvious interactions involving the fungi common in ants’ surroundings in temperate climates. In our study, we characterized the mycobiota of the surroundings of Formica polyctena ants by identifying nearly 600 fungal colonies that were isolated externally from the bodies of F. polyctena workers. The ants were collected from mounds found in northern and central Poland. Isolated fungi were assigned to 20 genera via molecular identification (ITS rDNA barcoding). Among these, Penicillium strains were the most frequent, belonging to eight different taxonomic sections. Other common and widespread members of Eurotiales, such as Aspergillus spp., were isolated very rarely. In our study, we managed to characterize the genera of fungi commonly present on F. polyctena workers. Our results suggest that Penicillium, Trichoderma, Mucor, Schwanniomyces and Entomortierella are commonly present in F. polyctena surroundings. Additionally, the high diversity and high frequency of Penicillium colonies isolated from ants in this study suggest that representatives of this genus may be adapted to survive in ant nests environment better than the other fungal groups, or that they are preferentially sustained by the insects in nests.

Normal Synaptonemal Complex and Abnormal Recombination Nodules in Two Alleles of the Drosophila Meiotic Mutant mei-W68

Genetics ◽  
2003 ◽  
Vol 163 (4) ◽  
pp. 1337-1356 ◽  
Author(s):  
Adelaide T C Carpenter
Keyword(s):  
Electron Microscopy ◽  
Synaptonemal Complex ◽  
High Frequency ◽  
Serial Section ◽  
The Other ◽  
Wild Type ◽  
Recombination Nodules ◽  
Section Electron ◽  
Serial Section Electron Microscopy ◽  
Section Electron Microscopy

Abstract The meiotic phenotypes of two mutant alleles of the mei-W68 gene, 1 and L1, were studied by genetics and by serial-section electron microscopy. Despite no or reduced exchange, both mutant alleles have normal synaptonemal complex. However, neither has any early recombination nodules; instead, both exhibit high numbers of very long (up to 2 μm) structures here named “noodles.” These are hypothesized to be formed by the unchecked extension of identical but much shorter structures ephemerally seen in wild type, which may be precursors of early recombination nodules. Although the mei-W68L1 allele is identical to the mei-W681 allele in both the absence of early recombination nodules and a high frequency of noodles (i.e., it is amorphic for the noodle phene), it is hypomorphic in its effects on exchange and late recombination nodules. The differential effects of this allele on early and late recombination nodules are consistent with the hypothesis that Drosophila females have two separate recombination pathways—one for simple gene conversion, the other for exchange.

A semi-hybrid model for malaria with limited superinfection

1998 ◽  
Vol 30 (04) ◽  
pp. 1027-1057 ◽  
Author(s):  
Philippe Picard
Keyword(s):  
Stochastic Model ◽  
Population Size ◽  
Hybrid Model ◽  
Human Population ◽  
Threshold Level ◽  
The Other ◽  
The Difference ◽  
The One

Modelling malaria with consistency necessitates the introduction of at least two families of interconnected processes. Even in a Markovian context the simplest fully stochastic model is intractable and is usually transformed into a hybrid model, by supposing that these two families are stochastically independent and linked only through two deterministic connections. A model closer to the fully stochastic model is presented here, where one of the two families is subordinated to the other and just a unique deterministic connection is required. For this model a threshold theorem can be proved but the threshold level is not the one obtained in a hybrid model. The difference disappears only when the human population size approaches infinity.

LONG DURATION ECHOES FROM AURORA, METEORS, AND IONOSPHERIC BACK-SCATTER

1953 ◽  
Vol 31 (2) ◽  
pp. 171-181 ◽  
Author(s):  
D. W. R. McKinley ◽  
Peter M. Millman
Keyword(s):  
Long Range ◽  
High Frequency ◽  
The Other ◽  
Very High Frequency ◽  
Long Duration ◽  
E Region ◽  
Very High ◽  
Visual Observations

In the course of the Ottawa meteor program some unusual echoes have been detected on 33 Mc. Echoes from the aurora are discussed and correlated with visual observations. Two mechanisms of radio reflections from the aurora have been proposed but the data here presented are insufficient to favor one over the other. On Aug. 4, 1948, six extremely long duration meteor echoes were observed which may have been due to abnormal ionospheric conditions. From time to time since August, 1948, a weak semipermanent echo has been recorded, usually appearing at a range of about 80 km., and enduring up to an hour. It is suggested that this echo is due to back-scatter from the same sources in the lower E-region that are presumed to be responsible for long-range very high frequency propagation.

scholarly journals Functional relationship between dental macrowear and diet in Late Pleistocene and recent modern human populations

2018 ◽  
Vol 28 (2) ◽  
pp. 153-161 ◽  
Author(s):  
Luca Fiorenza ◽  
Stefano Benazzi ◽  
Gregorio Oxilia ◽  
Ottmar Kullmer
Keyword(s):  
Late Pleistocene ◽  
Functional Relationship ◽  
Modern Human ◽  
Human Populations

scholarly journals The Genome of a Mongolian Individual Reveals the Genetic Imprints of Mongolians on Modern Human Populations

2014 ◽  
Vol 6 (12) ◽  
pp. 3122-3136 ◽  
Author(s):  
Haihua Bai ◽  
Xiaosen Guo ◽  
Dong Zhang ◽  
Narisu Narisu ◽  
Junjie Bu ◽  
...  
Keyword(s):  
Modern Human ◽  
Human Populations

scholarly journals Transduction mechanisms of bacteriophage ε15I. General properties of the system

1971 ◽  
Vol 18 (1) ◽  
pp. 9-19 ◽  
Author(s):  
R. W. Hedges
Keyword(s):  
High Frequency ◽  
Genetic Material ◽  
Recipient Strain ◽  
The Other ◽  
Donor Strain ◽  
General Properties ◽  
Show Evidence ◽  
Transduction Mechanisms ◽  
Defective Prophage

SUMMARYBacteriophageεγis capable of transduction both by replacement of a genetic segment of the recipient by the homologous genetic material from the donor strain and by the formation of defective transducing particles capable of lysogenizing the recipient strain ofS. anatum.The isolation of strains carrying such prophages, which have incorporated the lactose or arabinose operons, is reported. Lysogenic strains, carrying both normal and defective transducing prophage, form high-frequency transducing lysates. Other strains, carrying only defective prophage, show evidence that the association of prophage genes and transduced materials is stable since the loss of one frequently entails loss of the other.

Relative clauses in Agul from a corpus-based perspective

2020 ◽  
Vol 73 (1) ◽  
pp. 113-158
Author(s):  
Timur Maisak
Keyword(s):  
High Frequency ◽  
Relative Clauses ◽  
High Ratio ◽  
The Other ◽  
The Core ◽  
Text Corpora ◽  
The Asymmetry ◽  
Intransitive Verbs ◽  
Syntactic Restrictions ◽  
Locative Case

AbstractThis paper gives an account of participial clauses in Agul (Lezgic, Nakh-Daghestanian), based on a sample of 858 headed noun-modifying clauses taken from two text corpora, one spoken and one written. Noun-modifying clauses in Agul do not show syntactic restrictions on what can be relativized, and hence they instantiate the type known as GNMCCs, or general noun-modifying clause constructions. As the text counts show, intransitive verbs are more frequent than transitives and experiencer verbs in participial clauses, and among intransitive verbs, locative statives with the roots ‘be’ and ‘stay, remain’ account for half of all the uses. The asymmetry between the different relativization targets is also significant. Among the core arguments, the intransitive subject (S) is the most frequent target, patient (P) occupies second place, and agent (A) is comparatively rare. The preference of S and, in general, of S and P over A also holds true for most other Nakh-Daghestanian languages for which comparable counts are available. At the same time, Agul stands apart from the other languages by its high ratio of non-core relativization which accounts for 42% of all participial clauses. Addressee, arguments and adjuncts encoded with a locative case, as well as more general place and time relativizations show especially high frequency, outnumbering such arguments as experiencers, recipients, and predicative and adnominal possessors. Possible reasons for the high ratio of non-argument relativization are discussed in the paper.

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