Hypoxia Inducible Factor pathway proteins in high-altitude mammals

Lee, Frank S.

doi:10.1016/j.tibs.2023.11.002

Trends in Biochemical Sciences

2024

DOI: 10.1016/j.tibs.2023.11.002

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Hypoxia Inducible Factor pathway proteins in high-altitude mammals

Frank S. Lee

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2024

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Cited by 4 publications

References 80 publications

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Elucidating loss‐of‐function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort

Zhang,

Sun,

Huai

et al. 2024

Br J Haematol

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SummaryHIF‐2α, encoded by EPAS1, plays a dominant role in regulating erythropoietin (EPO) production, maintaining the dynamic balance of erythropoiesis. Gain‐of‐function mutations in EPAS1 cause erythrocytosis. However, anaemia caused by EPAS1 loss‐of‐function mutations has been confined to only one case report, and the underlying mechanism remains unclear. Herein, the reanalysis of high‐throughput sequencing data from 311 patients with anaemia identified three monoallelic EPAS1 variants from three unrelated families in a paediatric anaemia cohort. The probands showed highly consistent clinical phenotypes with normocytic and normochromic anaemia, reticulocytopenia and relative deficiency of serum EPO, characterised as congenital hypoplastic anaemia. In vitro studies suggested that defects in steady‐state protein abundance, nuclear localisation and binding with co‐activator in EPAS1 variants lead to impaired EPO transcriptional activation. Therefore, loss‐of‐function mutations in EPAS1 can cause erythroid hypoplasia in an EPO‐dependent manner. This study identified a new causative gene for congenital hypoplastic anaemia and clarified the molecular aetiology of loss‐of‐function EPAS1 mutations.

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Elucidating loss‐of‐function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort

Zhang,

Sun,

Huai

et al. 2024

Br J Haematol

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The evolutionary history of wild and domestic brown rats ( Rattus norvegicus )

Munshi-South,

Garcia,

Orton

et al. 2024

Science

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The brown rat ( Rattus norvegicus ) occupies nearly every terrestrial habitat with a human presence and is one of our most important model organisms. Despite this prevalence, gaps remain in understanding the evolution of brown rat commensalism, their global dispersal, and mechanisms underlying contemporary adaptations to diverse environments. In this Review, we explore recent advances in the evolutionary history of brown rats and discuss key challenges, including finding and accurately dating historical specimens, disentangling histories of multiple domestication events, and synthesizing functional variation in wild rat populations with the development of laboratory strains. Advances in zooarchaeology and population genomics will usher in a new golden age of research on the evolutionary biology of brown rats, with positive feedbacks on their use as biomedical models.

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Selection of polymorphic DNA-markers based on retrotransposons for the control of genetic structures of the Karachai horse

Erkenov,

Kosovsky

2024

Agrarnaâ nauka

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The biodiversity reduction and the rapid disappearance of autochthonous farm animal breeds pose a real threat to the development of agriculture on a global scale. This is of particular importance in connection with climate change, an increase of anthropogenic pressure, and the accumulation of genotoxic human waste. The need to study the genetic resources of autochthonous breeds, as a rule, reproduced in areas of risky animal husbandry, is due not only to the tasks of their conservation, but also to study the mechanism of molecular genetic bases of adaptation to adverse environmental factors (in particular, in mammals).The aim of the work is to select DNA markers characterized by high polymorphism and easily accessible enough for polylocus genotyping in the Karachai horse breed, characterized by high adaptation to mountain hypoxia.Polymorphism of fragments of horse genomic DNA flanked by inverted sections of long terminal repeats of four endogenous retroviruses: SIRE-1, PawS5, BERV k-1 and BERV β-3 was evaluated as DNA markers.As a result of the research, data were obtained that the most polymorphic sections of the genomic DNA of the Karachai horse are short fragments flanked by inverted repeats of SIRE-1 and BERV β-3, which can be used to identify the intrabreed diversity of the genetic structure of the Karachai horse..

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Hypoxia Inducible Factor pathway proteins in high-altitude mammals

Cited by 4 publications

References 80 publications

Elucidating loss‐of‐function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort

Elucidating loss‐of‐function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort

The evolutionary history of wild and domestic brown rats ( Rattus norvegicus )

Selection of polymorphic DNA-markers based on retrotransposons for the control of genetic structures of the Karachai horse

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