Yajun Lu, Yae Zhao, Li Hu, Wanyu Zhang, Yunyun Xie, Shi Cheng, Bin Zheng, Qianfeng Xia
{"title":"Exploration of Multi-Gene DNA Barcode Markers to Reveal the Broad Genetic Diversity of Field Ticks (Acari: Ixodidae) in a Tropical Environment of Hainan Island, China.","authors":"Yajun Lu, Yae Zhao, Li Hu, Wanyu Zhang, Yunyun Xie, Shi Cheng, Bin Zheng, Qianfeng Xia","doi":"10.1159/000531734","DOIUrl":"10.1159/000531734","url":null,"abstract":"<p><p>Ticks are hematophagous arthropods and obligate ectoparasites of humans and other animals. This study focused on the molecular discrimination of ticks in the tropical environment of Hainan according to multi-gene DNA barcode markers with the expectation of accurately distinguishing species. A total of 420 ticks, including 49 adult ticks, 203 nymphal ticks, and 168 larval ticks, were collected in the field, and the 49 adult ticks were identified as Rhipicephalus turanicus, Dermacentor marginatus, and Haemaphysalis longicornis. The mitochondrial 16S rRNA, ribosomal 28S rRNA D2, and ribosomal internal transcribed spacer 2 (ITS2) regions were used as DNA barcode markers to discriminate species. According to basic local alignment search tool analysis against the GenBank database, 16S rRNA positively identified ticks in the Rhipicephalus, Dermacentor, and Haemaphysalis genera; the 28S rRNA D2 region identified ticks in the Rhipicephalus and Dermacentor genera; and ITS2 identified ticks as D. marginatus. Pairwise sequence comparisons based on these three regions were visualized with a Sequence Demarcation Tool matrix. Substitution saturation tests using data analysis and molecular biology and evolution revealed little substitution saturation (Iss < Iss.c, p < 0.05) in the 16S rRNA region for the Haemaphysalis genus; 28S rRNA D2 region for the Rhipicephalus, Dermacentor, and Haemaphysalis genera; and ITS2 region for the Rhipicephalus and Dermacentor genera. Distinctive sequences for which it is difficult to obtain good matches with the sequences available in GenBank exist in the ticks of Hainan. Future studies should obtain complementary sequences to refine and update the database for the molecular characterization of ticks.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"59-73"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9752193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Addenda to ISCN 2020.","authors":"Ros Hastings, Jean McGowan-Jordan, Sarah Moore","doi":"10.1159/000533170","DOIUrl":"10.1159/000533170","url":null,"abstract":"<p><p>Since the publication of ISCN 2020, the ISCN Standing Committee have noted some clarification of the text and additional examples were needed. These addenda have already been published online (https://iscn.karger.com/) and this short report summarises the ISCN 2020 addenda for the benefit of participants. These addenda will be included in the release of the next version of ISCN.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-4"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9888220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Adayabalam S Balajee, Helen C Turner, Ruth C Wilkins
{"title":"Radiation Biodosimetry: Current Status and Future Initiatives.","authors":"Adayabalam S Balajee, Helen C Turner, Ruth C Wilkins","doi":"10.1159/000535488","DOIUrl":"10.1159/000535488","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"85-88"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138458499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Késsia Leite Souza, Silvana Melo, Marco Antônio Peixoto, Natália Martins Travenzoli, Renato Neves Feio, Jorge Abdala Dergam
{"title":"Repetitive DNA Mapping in Five Genera of Tree Frogs (Amphibia: Anura) from the Atlantic Forest: New Highlights on Genomic Organization in Hylidae.","authors":"Késsia Leite Souza, Silvana Melo, Marco Antônio Peixoto, Natália Martins Travenzoli, Renato Neves Feio, Jorge Abdala Dergam","doi":"10.1159/000537875","DOIUrl":"10.1159/000537875","url":null,"abstract":"<p><strong>Introduction: </strong>The tribes Cophomantini, Scinaxini, and Dendropsophini are anurans that belong to Hylidae, with wide distribution in tropical and subtropical regions around the world. The taxonomy and systematics of this family remain in a state of ongoing revision. Previous cytogenetic analyses of genera Boana, Bokermannohyla, Ololygon, Scinax, and Dendropsophus described some karyotypic characters such as conventional staining, C-banding and NORs, and FISH with specific probes.</p><p><strong>Methods: </strong>This study describes for the first time the karyotypes of four species: Bokermannohyla ibitipoca, Ololygon luizotavioi, Dendropsophus bipunctatus, and Dendropsophus ruschii. Furthermore, we map CA(15) and CAT(10) microsatellite sites for the aforementioned species and six more species from the same genera for insight into the chromosomal evolution within the subfamily Hyalinae.</p><p><strong>Results: </strong>B. ibitipoca and O. luizotavioi had 2n = 24 and karyotypic formulas 18m + 4sm + 2st and 8m + 12sm + 4st, while D. bipunctatus and D. ruschii showed 2n = 30 and karyotypic formulas 12m + 12sm + 4st + 2t and 10m + 10sm + 6st + 4t, respectively. The diploid numbers and karyotypic formulas revealed here follow the previously reported trend for Hylidae, except B. ibitipoca has a particularity of eight metacentric chromosomes, more than what is commonly found in species of this genus. The microsatellites probes CA(15) and CAT(10) had markings accumulated in blocks in the centromeric, pericentromeric, and terminal regions that were more specific for some species, as well as markings scattered along the chromosomes. We present a comprehensive review table of current data on cytogenetics of these genera.</p><p><strong>Conclusion: </strong>Our findings showed that the karyotypes of the hylids studied here majority fit the postulated conserved diploid number (2n = 24) and morphological chromosome patterns, while the mapping of the microsatellites enabled us to detect differences between species that share similar chromosomal morphologies.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"317-326"},"PeriodicalIF":1.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Front & Back Matter","authors":"","doi":"10.1159/000528619","DOIUrl":"https://doi.org/10.1159/000528619","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44325151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Front & Back Matter","authors":"","doi":"10.1159/000527396","DOIUrl":"https://doi.org/10.1159/000527396","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46178306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhongxia Qi, K. Wen, Anita Ki, Sonam Prakash, S. Kogan, Jingwei Yu
{"title":"Genomic Features of Interstitial Deletions of Chromosome 9q in Acute Myeloid Leukemia","authors":"Zhongxia Qi, K. Wen, Anita Ki, Sonam Prakash, S. Kogan, Jingwei Yu","doi":"10.1159/000525010","DOIUrl":"https://doi.org/10.1159/000525010","url":null,"abstract":"Interstitial deletion in the long arm of chromosome 9 [del(9q)] is a fairly common cytogenetic finding associated with acute myeloid leukemia (AML), seen in approximately 2–5% of AML patients. However, the genomic features of the deletion remain largely unknown. Using chromosome analysis, single nucleotide polymorphism microarray, and next-generation sequencing, we characterized del(9q)s and other genomic alterations in 9 AML patients. We found several distinct features of the del(9q)s. The proximal breakpoints of the deletions are clustered within a 2.5-Mb region (chr9: 68,513,625–70,984,372; GRCh37) enriched with segmental duplications, which may represent a “hotspot” for genomic rearrangements. However, the distal breakpoints of the deletions vary significantly. In addition, the overall deleted region could be divided into a 14.4-Mb proximal constitutional region (chr9: 70,950,015–85,397,699; 9q21.11q21.32) and a 24.0-Mb distal oncogenic region (chr9: 85,397,700–109,427,261; 9q21.32q31.1). We further identified a 6.8-Mb common overlapped deletion region (CODR) in the distal region (chr9: 90,590,650–97,366,400). This CODR carries multiple genes that are reportedly involved in cancer pathogenesis. The prognostic value of the del(9q) in AML apparently depends on additional genomic alterations in the patients.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 1","pages":"119 - 123"},"PeriodicalIF":1.7,"publicationDate":"2022-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49361383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Front & Back Matter","authors":"","doi":"10.1159/000525365","DOIUrl":"https://doi.org/10.1159/000525365","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42021130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E. Fonova, E. Tolmacheva, A. Kashevarova, E. Sazhenova, T. V. Nikitina, M. Lopatkina, O. Vasilyeva, A. Zarubin, Tatyana N Aleksandrova, S. Yuriev, N. Skryabin, V. Stepanov, I. Lebedev
{"title":"Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss","authors":"E. Fonova, E. Tolmacheva, A. Kashevarova, E. Sazhenova, T. V. Nikitina, M. Lopatkina, O. Vasilyeva, A. Zarubin, Tatyana N Aleksandrova, S. Yuriev, N. Skryabin, V. Stepanov, I. Lebedev","doi":"10.1159/000524342","DOIUrl":"https://doi.org/10.1159/000524342","url":null,"abstract":"Skewed X-chromosome inactivation (sXCI) can be a marker of lethal genetic variants on the X chromosome in a woman since sXCI modifies the pathological phenotype. The aim of this study was to search for CNVs in women with miscarriages and sXCI. XCI was assayed using the classical method based on the amplification of highly polymorphic exon 1 of the androgen receptor (AR) gene. The XCI status was analysed in 313 women with pregnancy loss and in 87 spontaneously aborted embryos with 46,XX karyotype, as well as in control groups of 135 women without pregnancy loss and 64 embryos with 46,XX karyotype from induced abortions in women who terminated a normal pregnancy. The frequency of sXCI differed significantly between women with miscarriages and women without pregnancy losses (6.3% and 2.2%, respectively; p = 0.019). To exclude primary causes of sXCI, sequencing of the XIST and XACT genes was performed. The XIST and XACT gene sequencing revealed no known pathogenic variants that could lead to sXCI. Molecular karyotyping was performed using aCGH, followed by verification of X-linked CNVs by RT-PCR and MLPA. Microdeletions at Xp11.23 and Xq24 as well as gains of Xq28 were detected in women with sXCI and pregnancy loss.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 1","pages":"97 - 108"},"PeriodicalIF":1.7,"publicationDate":"2022-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44373795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. Malinovskaya, A. Slobodchikova, Ekaterina O Grishko, I. Pristyazhnyuk, A. Torgasheva, P. Borodin
{"title":"Germline-Restricted Chromosomes and Autosomal Variants Revealed by Pachytene Karyotyping of 17 Avian Species","authors":"L. Malinovskaya, A. Slobodchikova, Ekaterina O Grishko, I. Pristyazhnyuk, A. Torgasheva, P. Borodin","doi":"10.1159/000524681","DOIUrl":"https://doi.org/10.1159/000524681","url":null,"abstract":"Karyotypes of less than 10% of bird species are known. Using immunolocalization of the synaptonemal complex, the core structure of meiotic chromosomes at the pachytene stage, and centromere proteins, we describe male pachytene karyotypes of 17 species of birds. This method enables higher resolution than the conventional analyses of metaphase chromosomes. We provide the first descriptions of the karyotypes of 3 species (rook, Blyth’s reed warbler, and European pied flycatcher), correct the published data on the karyotypes of 10 species, and confirm them for 4 species. All passerine species examined have highly conservative karyotypes, 2n = 80–82 with 7 pairs of macrochromosomes (including the ZZ sex chromosome pair which was not unambiguously distinguished from other macrochromosomes in most species) and 33–34 pairs of microchromosomes. In all of them, but not in the common cuckoo, we revealed single copies of the germline-restricted chromosomes varying in size and morphology even between closely related species. This indicates a fast evolution of this additional chromosome. The interspecies differences concern the sizes of the macrochromosomes, morphology of the microchromosomes, and sizes of the centromeres. The pachytene cells of the gouldian finch, brambling, and common linnet contain heteromorphic synaptonemal complexes indicating heterozygosity for inversions or centromere shifts. The European pied flycatcher, gouldian finch, and domestic canary have extended centromeres in several macro- and microchromosomes.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":"162 1","pages":"148 - 160"},"PeriodicalIF":1.7,"publicationDate":"2022-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49265319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}