scholarly journals Expression of Two Rye CENH3 Variants and Their Loading into Centromeres

Plants ◽  
2021 ◽  
Vol 10 (10) ◽  
pp. 2043
Author(s):  
Elena V. Evtushenko ◽  
Evgeny A. Elisafenko ◽  
Sima S. Gatzkaya ◽  
Veit Schubert ◽  
Andreas Houben ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Central Component ◽  
Gene Encoding ◽  
Gene Dosage Effect ◽  
Centromeric Chromatin ◽  
Gene Copies ◽  
Cereal Species ◽  
Secale Cereale L ◽  
And Function ◽  
Mitosis And Meiosis

Gene duplication and the preservation of both copies during evolution is an intriguing evolutionary phenomenon. Their preservation is related to the function they perform. The central component of centromere specification and function is the centromere-specific histone H3 (CENH3). Some cereal species (maize, rice) have one copy of the gene encoding this protein, while some (wheat, barley, rye) have two. Therefore, they represent a good model for a comparative study of the functional activity of the duplicated CENH3 genes and their protein products. We determined the organization of the CENH3 locus in rye (Secale cereale L.) and identified the functional motifs in the vicinity of the CENH3 genes. We compared the expression of these genes at different stages of plant development and the loading of their products, the CENH3 proteins, into nucleosomes during mitosis and meiosis. Using extended chromatin fibers, we revealed patterns of loading CENH3proteinsinto polynucleosomal domains in centromeric chromatin. Our results indicate no sign of neofunctionalization, subfunctionalization or specialization in the gene copies. The influence of negative selection on the coding part of the genes led them to preserve their conserved function. The advantage of having two functional genes appears as the gene-dosage effect.

scholarly journals The origin and evolution of a two-component system of paralogous genes encoding the centromeric histone CENH3 in cereals

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Evgeny A. Elisafenko ◽  
Elena V. Evtushenko ◽  
Alexander V. Vershinin
Keyword(s):  
Purifying Selection ◽  
Central Component ◽  
General Tendency ◽  
Gene Encoding ◽  
Syntenic Group ◽  
Origin And Evolution ◽  
Cereal Species ◽  
Genes Encoding ◽  
Intron Structure ◽  
And Function

Abstract Background The cereal family Poaceae is one of the largest and most diverse angiosperm families. The central component of centromere specification and function is the centromere-specific histone H3 (CENH3). Some cereal species (maize, rice) have one copy of the gene encoding this protein, while some (wheat, barley, rye) have two. We applied a homology-based approach to sequenced cereal genomes, in order to finally trace the mutual evolution of the structure of the CENH3 genes and the nearby regions in various tribes. Results We have established that the syntenic group or the CENH3 locus with the CENH3 gene and the boundaries defined by the CDPK2 and bZIP genes first appeared around 50 Mya in a common ancestor of the subfamilies Bambusoideae, Oryzoideae and Pooideae. This locus came to Pooideae with one copy of CENH3 in the most ancient tribes Nardeae and Meliceae. The βCENH3 gene as a part of the locus appeared in the tribes Stipeae and Brachypodieae around 35–40 Mya. The duplication was accompanied by changes in the exon-intron structure. Purifying selection acts mostly on αCENH3s, while βCENH3s form more heterogeneous structures, in which clade-specific amino acid motifs are present. In barley species, the βCENH3 gene assumed an inverted orientation relative to αCENH3 and the CDPK2 gene was substituted with LHCB-l. As the evolution and domestication of plant species went on, the locus was growing in size due to an increasing distance between αCENH3 and βCENH3 because of a massive insertion of the main LTR-containing retrotransposon superfamilies, gypsy and copia, without any evolutionary preference on either of them. A comparison of the molecular structure of the locus in the A, B and D subgenomes of the hexaploid wheat T. aestivum showed that invasion by mobile elements and concomitant rearrangements took place in an independent way even in evolutionarily close species. Conclusions The CENH3 duplication in cereals was accompanied by changes in the exon-intron structure of the βCENH3 paralog. The observed general tendency towards the expansion of the CENH3 locus reveals an amazing diversity of ways in which different species implement the scenario described in this paper.

scholarly journals Editorial Office BMC Biology The Origin and Evolution of a Two-Component System of Paralogous Genes Encoding the Centromeric Histone CENH3 in Cereals

2021 ◽  
Author(s):  
Evgeny Elisafenko ◽  
Elena Evtushenko ◽  
Alexander Vershinin
Keyword(s):  
Purifying Selection ◽  
Central Component ◽  
General Tendency ◽  
Editorial Office ◽  
Syntenic Group ◽  
Origin And Evolution ◽  
Cereal Species ◽  
Genes Encoding ◽  
Intron Structure ◽  
And Function

Abstract Background: The cereal family Poaceae is one of the largest and most diverse angiosperm families. The central component of centromere specification and function is the centromere-specific histone H3 (CENH3). Some cereal species (maize, rice) have one copy of the CENH3 gene, while some (wheat, barley, rye) have two. We applied a homology-based approach to sequenced cereal genomes, in order to finally trace the mutual evolution of the structure of the CENH3 genes and the nearby regions in various tribes. Results: We have established that the syntenic group or the CENH3 locus with the CENH3 gene and the boundaries defined by the Cdpk2 and bZip genes first appeared around 50 Mya in a common ancestor of the subfamilies Bambusoideae, Oryzoideae and Pooideae. This locus came to Pooideae with one copy of CENH3 in the most ancient tribes Nardeae and Meliceae. The βCENH3 gene as a part of the locus appeared in the tribes Stipeae and Brachypodieae around 35-40 Mya. The duplication was accompanied by changes in the exon-intron structure. Purifying selection acts mostly on αCENH3s, while βCENH3s form more heterogeneous structures, in which clade-specific amino acid motifs are present. In barley species, the βCENH3 gene assumed an inverted orientation relative to αCENH3 and the Cdpk2 gene was substituted with Cbp3c. As the evolutionary and breeding processes went on, the locus was growing in size due to an increasing distance between αCENH3 and βCENH3 because of a massive insertion of the main LTR-containing retrotransposon superfamilies, gypsy and copia, without any evolutionary preference on either of them. A comparison of the molecular structure of the locus in the A, B and D subgenomes of the hexaploid wheat T. aestivum showed that invasion by mobile elements and concomitant rearrangements took place in an independent way even in evolutionarily close species. Conclusions: The CENH3 duplication in cereals was accompanied by changes in the exon-intron structure of the βCENH3 paralog, which it was not in other plant taxa. The observed general tendency towards the expansion of the CENH3 locus reveals an amazing diversity of ways in which different species implement the scenario described in this paper.

Decreased Generation and Function of CD4+CD25hi T Regulatory Cells in Human STAT5b Deficiency.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 768-768
Author(s):  
Aileen Cleary ◽  
Kari Nadeau ◽  
Wenwei Tu ◽  
Vivian Hwa ◽  
Kira Y. Dionis ◽  
...  
Keyword(s):  
T Cells ◽  
T Cell ◽  
Gene Dosage ◽  
Foxp3 Expression ◽  
Intermediate Phenotype ◽  
Gamma Chain ◽  
Gene Dosage Effect ◽  
And Function

Abstract CD4+ CD25+ regulatory T cells (Tregs) are a well characterized population of cells that play an important role in limiting inflammation and in the maintenance of tolerance to self. Here we describe a patient with a homozygous missense mutation (A630P) in the STAT5b gene who clinically displays immune dysregulation in association with decreased numbers and function of Tregs. Freshly isolated or in vitro-derived CD4+CD25high Treg cells from this patient had low Foxp3 expression, did not suppress non Treg T-cell proliferation, and were unable to kill autologous CD4+CD25neg T cells compared to controls. CD25 expression in response to IL-2 did not increase on freshly isolated CD4 T cells and was decreased on T-cell blasts derived from the patient. The patients mother who was heterozygous for this mutation had an intermediate phenotype for all of these immune abnormalities, indicating a gene dosage effect. In contrast, IL-2 upregulated expression of the common gamma chain (γc) cytokine receptor and perforin by T cells normally. Activation-induced T-cell expression of CD40-ligand (CD154) and interferon-gamma (IFN-γ) were also normal in the patient. These results suggest that the STAT5 pathway propagates an important IL-2 mediated signal that is necessary for Treg generation and function in humans in vivo.

scholarly journals Characterization of a novel binding partner of the melanocortin-4 receptor: attractin-like protein

2003 ◽  
Vol 376 (3) ◽  
pp. 595-605 ◽  
Author(s):  
Andrea M. HAQQ ◽  
Patricia RENÉ ◽  
Toshiro KISHI ◽  
Kathy KHONG ◽  
Charlotte E. LEE ◽  
...  
Keyword(s):  
Transmembrane Domain ◽  
Gene Dosage ◽  
Direct Interaction ◽  
Amino Acid Identity ◽  
Motor Nucleus ◽  
Gene Dosage Effect ◽  
Melanocortin 4 Receptor ◽  
C Terminus ◽  
Brain Cdna Library ◽  
And Function

The gene dosage effect of the MC4-R (melanocortin 4 receptor) on obesity suggests that regulation of MC4-R expression and function is critically important to the central control of energy homoeostasis. In order to identify putative MC4-R regulatory proteins, we performed a yeast two-hybrid screen of a mouse brain cDNA library using the mouse MC4-R intracellular tail (residues 303–332) as bait. We report here on one positive clone that shares 63% amino acid identity with the C-terminal part of the mouse attractin gene product, a single-transmembrane-domain protein characterized as being required for agouti signalling through the melanocortin 1 receptor. We confirmed a direct interaction between this ALP (attractin-like protein) and the C-terminus of the mouse MC4-R by glutathione S-transferase pulldown experiments, and mapped the regions involved in this interaction using N- and C-terminal truncation constructs; residues 303–313 in MC4-R and residues 1280–1317 in ALP are required for binding. ALP is highly expressed in brain, but also in heart, lung, kidney and liver. Furthermore, co-localization analyses in mice showed co-expression of ALP in cells expressing MC4-R in a number of regions known to be important in the regulation of energy homoeostasis by melanocortins, such as the paraventricular nucleus of hypothalamus and the dorsal motor nucleus of the vagus.

scholarly journals Intricate structure of the interphase chromocenter revealed by the analysis of a factor involved in species formation

2018 ◽  
Author(s):  
Natalia Y. Kochanova ◽  
Tamas Schauer ◽  
Grusha Primal Mathias ◽  
Andrea Lukacs ◽  
Andreas Schmidt ◽  
...  
Keyword(s):  
Chromosome Segregation ◽  
Super Resolution ◽  
Pericentric Heterochromatin ◽  
Gene Encoding ◽  
Centromeric Chromatin ◽  
Species Formation ◽  
Higher Eukaryotes ◽  
And Function ◽  
Super Resolution Microscopy

ABSTRACTIn higher eukaryotes centromeres often coalesce into a large intranuclear domain called the chromocenter. Chromocenters are important for the organization of pericentric heterochromatin and a disturbance of their formation results in an upregulation of repetitive elements and causes defects in chromosome segregation. Mutations in the gene encoding for the centromere associated Drosophila speciation factor HMR show very similar phenotypes suggesting a role of HMR in chromocenter architecture and function. We performed confocal and super resolution microscopy as well as proximity based biotinylation experiments of HMR and its associated protein HP1a to generate a molecular map of HMR and HP1a bound chromatin. Our work reveals an intricate internal structure of the centromeric chromatin region, which suggests a role of HMR in separating heterochromatin from centromeric chromatin.

scholarly journals Developmental and Metabolic Effects of Disruption of the Mouse CTP:Phosphoethanolamine Cytidylyltransferase Gene (Pcyt2)

2007 ◽  
Vol 27 (9) ◽  
pp. 3327-3336 ◽  
Author(s):  
Morgan D. Fullerton ◽  
Fatima Hakimuddin ◽  
Marica Bakovic
Keyword(s):  
De Novo ◽  
Gene Dosage ◽  
Total Phospholipid ◽  
Metabolic Effects ◽  
Phospholipid Content ◽  
Gene Encoding ◽  
Activity Data ◽  
Gene Dosage Effect ◽  
Small Litter ◽  
Total Phospholipid Content

ABSTRACT The CDP-ethanolamine pathway is responsible for the de novo biosynthesis of ethanolamine phospholipids, where CDP-ethanolamine is coupled with diacylglycerols to form phosphatidylethanolamine. We have disrupted the mouse gene encoding CTP:phosphoethanolamine cytidylyltransferase, Pcyt2, the main regulatory enzyme in this pathway. Intercrossings of Pcyt2 +/ − animals resulted in small litter sizes and unexpected Mendelian frequencies, with no null mice genotyped. The Pcyt2 − / − embryos die after implantation, prior to embryonic day 8.5. Examination of mRNA expression, protein content, and enzyme activity in Pcyt2 +/ − animals revealed the anticipated 50% decrease due to the gene dosage effect but rather a 20 to 35% decrease. [14C]ethanolamine radiolabeling of hepatocytes, liver, heart, and brain corroborated Pcyt2 gene expression and activity data and showed a decreased rate of phosphatidylethanolamine biosynthesis in heterozygotes. Total phospholipid content was maintained in Pcyt2 +/ − tissues; however, this was not due to compensatory increases in the decarboxylation of phosphatidylserine. These results establish the necessity of Pcyt2 for murine development and demonstrate that a single Pcyt2 allele in heterozygotes can maintain phospholipid homeostasis.

Evidence of a gene-dosage effect for the glucocorticoid receptor in trisomy 18 mice

1987 ◽  
Vol 116 (3_Suppl) ◽  
pp. S95-S96
Author(s):  
D. VOGLIOLO ◽  
H. WINKING ◽  
R. KNUPPEN
Keyword(s):  
Glucocorticoid Receptor ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Trisomy 18 ◽  
Gene Dosage Effect

BMP15 gene dosage as a relevant X-linked determinant of ovarian development and function

2014 ◽  
Author(s):  
Raffaella Rossetti ◽  
Irene Negri ◽  
Chiara Castronovo ◽  
Palma Finelli ◽  
Luca Persani
Keyword(s):  
Ovarian Development ◽  
Gene Dosage ◽  
And Function

scholarly journals The Schizosaccharomyces pombe cho1+ Gene Encodes a Phospholipid Methyltransferase

Genetics ◽  
1998 ◽  
Vol 150 (2) ◽  
pp. 553-562
Author(s):  
Margaret I Kanipes ◽  
John E Hill ◽  
Susan A Henry
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Sequence Analysis ◽  
Schizosaccharomyces Pombe ◽  
Gene Disruption ◽  
Structure And Function ◽  
Biosynthetic Enzyme ◽  
Gene Encoding ◽  
Complementation Groups ◽  
Eukaryotic Organisms ◽  
And Function

Abstract The isolation of mutants of Schizosaccharomyces pombe defective in the synthesis of phosphatidylcholine via the methylation of phosphatidylethanolamine is reported. These mutants are choline auxotrophs and fall into two unlinked complementation groups, cho1 and cho2. We also report the analysis of the cho1+ gene, the first structural gene encoding a phospholipid biosynthetic enzyme from S. pombe to be cloned and characterized. The cho1+ gene disruption mutant (cho1Δ) is viable if choline is supplied and resembles the cho1 mutants isolated after mutagenesis. Sequence analysis of the cho1+ gene indicates that it encodes a protein closely related to phospholipid methyltransferases from Saccharomyces cerevisiae and rat. Phospholipid methyltransferases encoded by a rat liver cDNA and the S. cerevisiae OPI3 gene are both able to complement the choline auxotrophy of the S. pombe cho1 mutants. These results suggest that both the structure and function of the phospholipid N-methyltransferases are broadly conserved among eukaryotic organisms.

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