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1.
PLoS One ; 19(3): e0292179, 2024.
Article in English | MEDLINE | ID: mdl-38451888

ABSTRACT

Epigenetic changes in sexually reproducing animals may be transmitted usually only through a few generations. Here we discovered a case where epigenetic change lasts 40 generations. This epigenetic phenomenon occurs in the short antennae (sa) mutation of the flour moth (Ephestia kuehniella). We demonstrate that is probably determined by a small RNA (e.g., piRNA, miRNA, tsRNA) and transmitted in this way to subsequent generations through the male and female gametes. The observed epigenetic change cancels sa mutation and creates a wild phenotype (a moth that appears to have no mutation). It persists for many generations (40 recorded). This epigenetic transgenerational effect (suppression homozygous mutation for short antennae) in the flour moth is induced by changes during ontogenetic development, such as increased temperature on pupae development, food, different salts in food, or injection of RNA from the sperm of already affected individuals into the eggs. The epigenetic effect may occasionally disappear in some individuals and/or progeny of a pair in the generation chain in which the effect transfers. We consider that the survival of RNA over many generations has adaptive consequences. It is mainly a response to environmental change that is transmitted to offspring via RNA. In this study, we test an interesting epigenetic effect with an unexpected length after 40 generations and test what is its cause. Such transfer of RNA to subsequent generations may have a greater evolutionary significance than previously thought. Based on some analogies, we also discuss of the connection with the SIR2 gene.


Subject(s)
Moths , Humans , Animals , Male , Female , Moths/genetics , RNA , Temperature , Semen , Epigenesis, Genetic
2.
Comp Cytogenet ; 16(4): 185-209, 2022.
Article in English | MEDLINE | ID: mdl-36760487

ABSTRACT

Haplogyne araneomorphs are a diverse spider clade. Their karyotypes are usually predominated by biarmed (i.e., metacentric and submetacentric) chromosomes and have a specific sex chromosome system, X1X2Y. These features are probably ancestral for haplogynes. Nucleolus organizer regions (NORs) spread frequently from autosomes to sex chromosomes in these spiders. This study focuses on pholcids (Pholcidae), a highly diverse haplogyne family. Despite considerable recent progress in pholcid cytogenetics, knowledge on many clades remains insufficient including the most species-rich pholcid genus, Pholcus Walckenaer, 1805. To characterize the karyotype differentiation of Pholcus in Europe, we compared karyotypes, sex chromosomes, NORs, and male meiosis of seven species [P.alticeps Spassky, 1932; P.creticus Senglet, 1971; P.dentatus Wunderlich, 1995; P.fuerteventurensis Wunderlich, 1992; P.phalangioides (Fuesslin, 1775); P.opilionoides (Schrank, 1781); P.silvai Wunderlich, 1995] representing the dominant species groups in this region. The species studied show several features ancestral for Pholcus, namely the 2n♂ = 25, the X1X2Y system, and a karyotype predominated by biarmed chromosomes. Most taxa have a large acrocentric NOR-bearing pair, which evolved from a biarmed pair by a pericentric inversion. In some lineages, the acrocentric pair reverted to biarmed. Closely related species often differ in the morphology of some chromosome pairs, probably resulting from pericentric inversions and/or translocations. Such rearrangements have been implicated in the formation of reproductive barriers. While the X1 and Y chromosomes retain their ancestral metacentric morphology, the X2 chromosome shows a derived (acrocentric or subtelocentric) morphology. Pairing of this element is usually modified during male meiosis. NOR patterns are very diverse. The ancestral karyotype of Pholcus contained five or six terminal NORs including three X chromosome-linked loci. The number of NORs has been frequently reduced during evolution. In the Macaronesian clade, there is only a single NOR-bearing pair. Sex chromosome-linked NORs are lost in Madeiran species and in P.creticus. Our study revealed two cytotypes in the synanthropic species P.phalangioides (Madeiran and Czech), which differ by their NOR pattern and chromosome morphology. In the Czech cytotype, the large acrocentric pair was transformed into a biarmed pair by pericentric inversion.

3.
Molecules ; 26(11)2021 Jun 03.
Article in English | MEDLINE | ID: mdl-34205105

ABSTRACT

The Late Neolithic palafitte site, Ustie na Drim, in the northern part of Lake Ohrid (North Macedonia), excavated in 1962, offered ceramic fragments of large, flat, elongated pans. These artifacts could be dated by relative chronology to roughly around 5200-5000 BC. According to their shape and technological traits, the ceramic pans were probably used for baking. The attached materials on the surface of studied pan fragments were sampled for consequent chemical and microscopical analyses (i.e., analyses of starch, phytoliths, and microscopic animal remains). An immunological method revealed the presence of pork proteins in samples. The presence of organic residues of animal origin was, moreover, confirmed by the detection of cholesterol using gas chromatography coupled to mass spectrometry. Analysis of detected microscopic botanical objects revealed starch grains of several plants (i.e., oak, cattail, and grasses). An interesting find was the hair of a beetle larva, which could be interpreted contextually as the khapra beetle, a pest of grain and flour. Based on our data, we suppose that the ceramic pans from Ustie na Drim were used for the preparation of meals containing meat from common livestock in combination with cereals and wild plants.


Subject(s)
Ceramics/analysis , Food/history , Plant Extracts/analysis , Proteins/analysis , Animals , Archaeology , Ceramics/history , Cooking/history , Gas Chromatography-Mass Spectrometry , History, Ancient , Plant Extracts/history , Proteins/history , Republic of North Macedonia , Swine
4.
Molecules ; 23(12)2018 Dec 07.
Article in English | MEDLINE | ID: mdl-30544625

ABSTRACT

In this study, a soil from two ceramic vessels belonging to Corded Ware culture, 2707⁻2571 B.C., found in a cremation grave discovered in Central Moravia, Czech Republic, was analyzed using matrix-assisted laser desorption/ionization⁻mass spectrometry (MALDI⁻MS) combined with advanced statistical treatment (principal component analysis, PCA, and orthogonal projection to latent structures discriminant analysis, OPLS-DA) and by enzyme-linked immunosorbent assay (ELISA). MALDI⁻MS revealed the presence of triacylglycerols in both vessels. This analytical technique was used for the analysis of the soil content from archaeological ceramic vessels for the first time. Targeted ELISA experiments consequently proved the presence of milk proteins in both ceramic vessels. These results represent the first direct evidence of the use of milk or dairy products in the Eneolithic period in Moravian Corded Ware Culture and help to better understand the diet habits and living conditions of Eneolithic populations in Central Europe.


Subject(s)
Burial , Ceramics/chemistry , Milk/chemistry , Animals , Caseins/analysis , Soil , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization , Time Factors
5.
Cesk Patol ; 54(3): 132-136, 2018.
Article in English | MEDLINE | ID: mdl-30445817

ABSTRACT

Adenoid cystic carcinoma of salivary gland origin (AdCC) is second most common salivary carcinoma characterized by frequent recurrences, perineural invasion and high long-term mortality rate. The surgical resection of the tumor in combination with adjuvant radiotherapy is the only method of choice. AdCC has been studied, altogether with immunohistochemistry, by numerous molecular-genetic techniques. Some of them, e.g. reverse-transcription PCR or fluorescent in situ hybridization contributed to the identification of translocation t(6;9)(q22-23;p23-24), which results in fusion of two transcription factors MYB-NFIB. For AdCC is this fusion unique among salivary gland carcinomas and serves as a diagnostical tool in differential diagnosis of histopathologically difficult cases. More complex methods, such as next-generation sequencing helped to detect other molecular level changes; and hence improved understanding of a development, behavior and pathogenesis of this possibly fatal malignancy. This review summarizes basic knowledge of AdCC on the genome, transcriptome and epigenetic level, which were achieved using molecular-genetic and immunohistochemical methods. Keywords: adenoid cystic carcinoma - salivary carcinoma - MYB-NFIB - FISH - aCGH - NGS.


Subject(s)
Carcinoma, Adenoid Cystic , Salivary Gland Neoplasms , Biomarkers, Tumor , Carcinoma, Adenoid Cystic/diagnosis , Carcinoma, Adenoid Cystic/genetics , Humans , In Situ Hybridization, Fluorescence , Neoplasm Recurrence, Local , Prognosis , Salivary Gland Neoplasms/diagnosis , Salivary Gland Neoplasms/genetics , Salivary Glands
6.
Virchows Arch ; 473(5): 583-590, 2018 Nov.
Article in English | MEDLINE | ID: mdl-30116888

ABSTRACT

We examined the value of targeted molecular screening for the identification of uterine anaplastic lymphoma kinase (ALK)-rearranged mesenchymal tumors, including ALK immunohistochemistry followed by molecular genetic testing, in all uterine leiomyosarcomas and STUMPs (smooth muscle tumors of uncertain malignant potential). All leiomyosarcoma and STUMP cases diagnosed in a 10-year period (2006-2016) at Charles University Faculty of Medicine in Pilsen were retrieved and reviewed. Of 23 cases, one case (LMS [leiomyosarcoma]) was positive for ALK rearrangement, namely, PPP1CB-ALK fusion gene. No specific histologic features (i.e., lymphocytic infiltrate and stromal edema) were observed in this case. This suggests that inflammatory myofibroblastic tumor (IMT)-like histologic features may not be an initial reliable screening tool in identifying uterine IMT cases. Thus, we proposed a two-step IHC and molecular genetic testing (as a reflex test) for IMT in all uterine LMS and STUMP cases. This will enhance the proper detection of such tumors at the population level and ultimately offer patients available targeted therapies.


Subject(s)
Biomarkers, Tumor/genetics , Gene Rearrangement , Genetic Testing/methods , Leiomyosarcoma/genetics , Receptor Protein-Tyrosine Kinases/genetics , Smooth Muscle Tumor/genetics , Uterine Neoplasms/genetics , Anaplastic Lymphoma Kinase , Biomarkers, Tumor/metabolism , Female , Humans , Immunohistochemistry , Leiomyosarcoma/diagnosis , Leiomyosarcoma/metabolism , Receptor Protein-Tyrosine Kinases/metabolism , Retrospective Studies , Smooth Muscle Tumor/diagnosis , Smooth Muscle Tumor/metabolism , Uterine Neoplasms/diagnosis , Uterine Neoplasms/metabolism
7.
Am J Surg Pathol ; 42(2): 234-246, 2018 02.
Article in English | MEDLINE | ID: mdl-29076873

ABSTRACT

ETV6 gene abnormalities are well described in tumor pathology. Many fusion partners of ETV6 have been reported in a variety of epithelial, mesenchymal, and hematological malignancies. In salivary gland tumor pathology, however, the ETV6-NTRK3 translocation is specific for (mammary analog) secretory carcinoma, and has not been documented in any other salivary tumor type. The present study comprised a clinical, histologic, and molecular analysis of 10 cases of secretory carcinoma, with typical morphology and immunoprofile harboring a novel ETV6-RET translocation.


Subject(s)
Biomarkers, Tumor/genetics , Gene Expression Profiling/methods , Gene Fusion , Mammary Analogue Secretory Carcinoma/genetics , Proto-Oncogene Proteins c-ets/genetics , Proto-Oncogene Proteins c-ret/genetics , Repressor Proteins/genetics , Salivary Gland Neoplasms/genetics , Translocation, Genetic , Adult , Aged , Biomarkers, Tumor/analysis , Female , Genetic Predisposition to Disease , High-Throughput Nucleotide Sequencing , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Male , Mammary Analogue Secretory Carcinoma/chemistry , Mammary Analogue Secretory Carcinoma/pathology , Middle Aged , Phenotype , Predictive Value of Tests , Registries , Salivary Gland Neoplasms/chemistry , Salivary Gland Neoplasms/pathology , Transcriptome , ETS Translocation Variant 6 Protein
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