{"title":"Exploring the Role of Extrachromosomal Circular DNA in Human Diseases.","authors":"Yali Peng, Huihui Tao, Guoying Wang, Mengyao Wu, Tinatin Xu, Chunmei Wen, Xuejia Zheng, Yong Dai","doi":"10.1159/000541563","DOIUrl":"10.1159/000541563","url":null,"abstract":"<p><strong>Background: </strong>Extrachromosomal circular DNA (eccDNA) has emerged as a central focus in molecular biology, with various types being found across species through advanced techniques, including high-throughput sequencing. This dynamic molecule exerts a significant influence on aging and immune function and plays pivotal roles in autoimmune diseases, type 2 diabetes mellitus, cancer, and genetic disorders.</p><p><strong>Summary: </strong>This comprehensive review investigates the classification, characteristics, formation processes, and multifaceted functions of eccDNA, providing an in-depth exploration of its mechanisms in diverse diseases.</p><p><strong>Key messages: </strong>The goal of this review was to establish a robust theoretical foundation for a more comprehensive understanding of eccDNA, offering valuable insights for the development of clinical diagnostics and innovative therapeutic strategies in the context of related diseases.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"181-193"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343460","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}
Joana Seixas, Niklas Padutsch, Stefanie Kankel, Thomas Liehr, Alody Sy
{"title":"Molecular Cytogenetic Characterization of Rare but Repeatedly Observed Inversions in German Population.","authors":"Joana Seixas, Niklas Padutsch, Stefanie Kankel, Thomas Liehr, Alody Sy","doi":"10.1159/000539447","DOIUrl":"10.1159/000539447","url":null,"abstract":"<p><strong>Introduction: </strong>The term inversion refers to an aberration caused by two breakage and fusion events found in one or both arms of a chromosome. The presence of such aberrations can but must not be associated with infertility or unbalanced products of conception. Normally, inversions are not associated with phenotypic alterations for the carrier. Despite the fact that most such inversions are de novo and unique, recurrent breakpoints have also been reported.</p><p><strong>Methods: </strong>Here two recurrent paracentric inversions in the long arm of chromosomes 11 and 12 and a pericentric one in chromosome 10 were studied in at least 10 unrelated (infertile) patients, each. Breakpoints were narrowed down by fluorescence in situ hybridization applying locus-specific bacterial artificial chromosome-derived probes.</p><p><strong>Results: </strong>Molecular cytogenetically identical breakpoints could be characterized for all three studied inversions. Pericentric inversion inv(10)(p11.21q21.2), previously reported to be of single origin and distributed mainly in Northern Europe, could be found to be present all over Germany, too. In the studied cases with paracentric inversion inv(11)(q21q23.3), recurrent breakpoints were found in all parts of Germany, as well; however, additional 2 cases with slightly different breakpoints were characterized besides. Most interestingly, inversion inv(12)(q14.1∼14.2q24.11∼24.13) had always the same recurrent breakpoints and presented an exclusive occurrence in North-Western part of Germany.</p><p><strong>Conclusion: </strong>Overall, (at least) three different cytogenetically detectable recurrent inversions were characterized here. This highlights that such events may be more frequent in human population than yet suggested. Accordingly, such events might even spread in (middle European) human population. Specific impact on reproduction and fitness of inversion carriers characterized here seems to be negligible. Nonetheless, such recurrent rearrangements need more attention as they may provide valuable information for genetic counseling in future.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"78-84"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141155091","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}
Thays Duarte de Oliveira, Natasha A Bertocchi, Bruno Busnello Kubiak, Daniel Galiano, Sérgio Luiz Althoff, Thales R O de Freitas
{"title":"New Karyotype Information for Ctenomys (Rodentia: Ctenomyidae) from Midwest and Northern Brazil.","authors":"Thays Duarte de Oliveira, Natasha A Bertocchi, Bruno Busnello Kubiak, Daniel Galiano, Sérgio Luiz Althoff, Thales R O de Freitas","doi":"10.1159/000538014","DOIUrl":"10.1159/000538014","url":null,"abstract":"<p><strong>Introduction: </strong>Its wide karyotypic variation characterizes the genus Ctenomys, and in Brazil, the genus is distributed in the country's southern, Midwest, and northern regions. Recently, populations of Ctenomys have been found in the Midwest and northern Brazil, with two new lineages named C. sp. \"xingu\" and C. sp. \"central.\"</p><p><strong>Methods: </strong>This work combines classical cytogenetic and molecular analyses to provide new chromosomal information on the boliviensis group distributed in northern and Midwestern Brazil. This includes the validation of the karyotype of C. bicolor and C. nattereri and the description of the karyotype of C. sp. \"xingu\" and C. sp. \"central.\"</p><p><strong>Results: </strong>We found three different karyotypes: 2n = 40 for C. bicolor; 2n = 36 for C. nattereri, and specimens from a locality belonging to C. sp. \"central\"; 2n = 34 for the lineage C. sp. \"xingu\" and specimens from a locality belonging to C. sp. \"central.\" Furthermore, GTG banding revealed homologous chromosomes between species/lineages and allowed the identification of the rearrangements that occurred, which proved the occurrence of fissions.</p><p><strong>Conclusion: </strong>Considering our results on the variation of 2n in the boliviensis group, we found two possibilities: the first, deduced by parsimony, is that 2n = 36 appeared initially, and two fissions produced gave rise to 2n = 40, and an independent fusion gave rise to 2n = 34 from 2n = 36; moreover, the second explanation is that all karyotypes arose independently.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"33-42"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139971276","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":"The Association between Short Telomere Length and Cardiovascular Disease.","authors":"Persefoni Fragkiadaki, Miruna-Maria Apetroaei, Elisavet Kouvidi, Elena Vakonaki, Elissavet Renieri, Irene Fragkiadoulaki, Marios Spanakis, Stella Baliou, Athanasios Alegakis, Aristidis Tsatsakis","doi":"10.1159/000542795","DOIUrl":"10.1159/000542795","url":null,"abstract":"<p><strong>Introduction: </strong>Telomeres, repetitive DNA sequences at chromosome ends, shorten with cell division, countered by telomerase. Short telomeres are linked to cardiovascular disease (CVD), alongside its risk factors like aging, hypertension, diabetes, obesity, inactivity, and smoking. Many studies have claimed the implication of telomere length (TL) in cardiac diseases. This study examined TL's impact on heart conditions using quantitative fluorescence in situ hybridization (Q-FISH) technology.</p><p><strong>Methods: </strong>Thirteen CVD patients (nine men and four women) aged 30-70 years and aged-matched healthy participants from the BIOTEL population TL database, were included in the study. Each chromosome's TL from peripheral blood cells was measured using metaphase Q-FISH. An independent sample t test was used to compare participants' mean or median TL with various medical factors and habits.</p><p><strong>Results: </strong>The mean TL of whole and short telomeres in cardiac disease patients was lower compared to aged-matched healthy controls; however, there was no statistical significance due to the limited patient sample. The mean TL of short telomeres in cardiac disease patients showed a remarkable decline with advanced age. Accordingly, the mean TL of whole and short telomeres in patients with cardiac diseases showed a similar reduced trend.</p><p><strong>Conclusion: </strong>In our study, shorter TL was observed in cardiac disease patients compared to those of healthy controls by using metaphase Q-FISH. However, more cases need to be studied to elucidate the use of TL as a potential biomarker for the diagnosis of patients with CVD.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"202-210"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812677","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":"Cytogenomic Characterization of Murine Osteosarcoma Cell Line SEWA.","authors":"Thomas Liehr, Martina Rincic","doi":"10.1159/000543063","DOIUrl":"10.1159/000543063","url":null,"abstract":"<p><strong>Introduction: </strong>The SEWA cell line, which is derived from a virus-induced murine osteosarcoma (OS) ascites, was established in the 1980s from a serially transplanted male-derived tumor that was first published in 1961. It has been applied in about 50 studies but was never genetically characterized in detail; this study fills that gap.</p><p><strong>Methods: </strong>The SEWA cell line was analyzed for its chromosomal constitution using molecular cytogenetic approaches. Array comparative genomic hybridization was performed to characterize copy number alterations.</p><p><strong>Results: </strong>SEWA has a near-diploid karyotype without Y-chromosome material. The complex karyotype includes neocentrics and simple and complex rearrangements. Amplification of MYC oncogene was detected in two homogeneously staining regions on two different derivative chromosomes.</p><p><strong>Conclusion: </strong>An in silico translation of the obtained results to the human genome indicated that SEWA is suitable as a model for advanced human OS.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"236-242"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812676","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}
Camila N Moreira, Fernanda G Pricoli, Malcolm A Ferguson-Smith, Yatiyo Yonenaga-Yassuda, Karen Ventura
{"title":"Karyotypic Reshuffling in the Genus Rhipidomys (Rodentia: Cricetidae: Sigmodontinae) Revealed by Zoo-FISH.","authors":"Camila N Moreira, Fernanda G Pricoli, Malcolm A Ferguson-Smith, Yatiyo Yonenaga-Yassuda, Karen Ventura","doi":"10.1159/000539476","DOIUrl":"10.1159/000539476","url":null,"abstract":"<p><strong>Introduction: </strong>Rhipidomys is the second most specious and the most widespread genus of the tribe Thomasomyini. Chromosomal data have been an important tool in the taxonomy of the group that presents low variability of diploid number (2n) and highly variable fundamental numbers (FNs). Despite such diversity, the genus has been studied mainly by classical and banding cytogenetic techniques.</p><p><strong>Methods: </strong>This study performed a comparative study between R. emiliae (2n = 44, FN = 52), R. macrurus (2n = 44, FN = 49), R. nitela (2n = 50, FN = 71), and R. mastacalis (2n = 44, FN = 72) using chromosome painting probes of two Oryzomyini species.</p><p><strong>Results: </strong>Our analysis revealed pericentric inversion as the main rearrangement involved in the karyotype evolution of the group, although tandem fusions/fissions were also detected. In addition, we detected eight syntenic associations exclusive of the genus Rhipidomys, and three syntenic associations shared between species of the tribe Thomasomyini and Oryzomyini.</p><p><strong>Conclusion: </strong>Comparative cytogenetic analysis by ZOO-FISH on genus Rhipidomys supports a pattern of chromosomal rearrangement already suggested by comparative G-banding. However, the results suggest that karyotype variability in the genus could also involve the occurrence of an evolutionary new centromere.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"110-120"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141179207","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}
Hongyou Zhao, Duo Wang, Haitao Li, Shuang Li, Yanfang Wang, Anshun Xu, Chunyong Yang, Ge Li, Yanqian Wang, Lixia Zhang
{"title":"Fluorescence in situ Hybridization Analysis of Oligonucleotide 5S Ribosomal DNA, 45S Ribosomal DNA, and (TTTAGGG)3 Locations in Gloriosa superba L.","authors":"Hongyou Zhao, Duo Wang, Haitao Li, Shuang Li, Yanfang Wang, Anshun Xu, Chunyong Yang, Ge Li, Yanqian Wang, Lixia Zhang","doi":"10.1159/000541706","DOIUrl":"10.1159/000541706","url":null,"abstract":"<p><strong>Introduction: </strong>Gloriosa superba L. is a horticulturally and medicinally important plant native to Africa. However, the few cytogenetic studies of the species are mainly focused on chromosome counting and chromosome morphology-based karyotyping. Fluorescence in situ hybridization (FISH) is a powerful tool for the detection of DNA repetitive elements in a specific region of a chromosome.</p><p><strong>Methods: </strong>Here, detailed karyotypes of G. superba were constructed by FISH using 5S and 45S rDNAs, and telomeric repeat (TTTAGGG)3 oligonucleotides.</p><p><strong>Results and conclusion: </strong>Twenty-two chromosomes were observed. Two 5S rDNA hybridization signals were detected in the proximal regions of the short arms of one pair of chromosomes, which were adjacent to the (TTTAGGG)3 terminal signals. Four 45S rDNA signals were detected near the centromere region of the short arm of the four chromosomes, but one of these was very weak and almost undetectable compared to the others. Telomeric repeat hybridization signals were distributed at the terminal region of each chromosome. The chromosomes displayed were intact, and the chromosome counts were accurate. Chromosome length ranged from 3.46 to 9.31 μm. These results will facilitate the cytogenetic mapping of other major repeats, thus contributing to an improved understanding of the G. superba genome structure and evolutionary history.</p><p><strong>Introduction: </strong>Gloriosa superba L. is a horticulturally and medicinally important plant native to Africa. However, the few cytogenetic studies of the species are mainly focused on chromosome counting and chromosome morphology-based karyotyping. Fluorescence in situ hybridization (FISH) is a powerful tool for the detection of DNA repetitive elements in a specific region of a chromosome.</p><p><strong>Methods: </strong>Here, detailed karyotypes of G. superba were constructed by FISH using 5S and 45S rDNAs, and telomeric repeat (TTTAGGG)3 oligonucleotides.</p><p><strong>Results and conclusion: </strong>Twenty-two chromosomes were observed. Two 5S rDNA hybridization signals were detected in the proximal regions of the short arms of one pair of chromosomes, which were adjacent to the (TTTAGGG)3 terminal signals. Four 45S rDNA signals were detected near the centromere region of the short arm of the four chromosomes, but one of these was very weak and almost undetectable compared to the others. Telomeric repeat hybridization signals were distributed at the terminal region of each chromosome. The chromosomes displayed were intact, and the chromosome counts were accurate. Chromosome length ranged from 3.46 to 9.31 μm. These results will facilitate the cytogenetic mapping of other major repeats, thus contributing to an improved understanding of the G. superba genome structure and evolutionary history.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"276-283"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11825083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Loss of One X and the Y Chromosome Changes the Configuration of the X Inactivation Center in the Genus Tokudaia.","authors":"Luisa Matiz-Ceron, Miki Okuno, Takehiko Itoh, Ikuya Yoshida, Shusei Mizushima, Atsushi Toyoda, Takamichi Jogahara, Asato Kuroiwa","doi":"10.1159/000539294","DOIUrl":"10.1159/000539294","url":null,"abstract":"<p><strong>Introduction: </strong>X chromosome inactivation (XCI) is an essential mechanism for dosage compensation between females and males in mammals. In females, XCI is controlled by a complex, conserved locus termed the X inactivation center (Xic), in which the lncRNA Xist is the key regulator. However, little is known about the Xic in species with unusual sex chromosomes. The genus Tokudaia includes three rodent species endemic to Japan. Tokudaia osimensis and Tokudaia tokunoshimensis lost the Y chromosome (XO/XO), while Tokudaia muenninki (TMU) acquired a neo-X region by fusion of the X chromosome and an autosome (XX/XY). We compared the gene location and structure in the Xic among Tokudaia species.</p><p><strong>Methods: </strong>Gene structure of nine genes in Xic was predicted, and the gene location and genome sequences of Xic were compared between mouse and Tokudaia species. The expression level of the gene was confirmed by transcripts per million calculation using RNA-seq data.</p><p><strong>Results: </strong>Compared to mouse, the Xic gene order and location were conserved in Tokudaia species. However, remarkable structure changes were observed in lncRNA genes, Xist and Tsix, in the XO/XO species. In Xist, important functional repeats, B-, C-, D-, and E-repeats, were partially or completely lost due to deletions in these species. RNA-seq data showed that female-specific expression patterns of Xist and Tsix were confirmed in TMU, however, not in the XO/XO species. Additionally, three deletions and one inversion were confirmed in the intergenic region between Jpx and Ftx in the XO/XO species.</p><p><strong>Conclusion: </strong>Our findings indicate that even if the Xist and Tsix lncRNAs are expressed, they are incapable of producing a successful and lasting XCI in the XO/XO species. We hypothesized that the significant structure change in the intergenic region of Jpx-Ftx resulted in the inability to perform the XCI, and, as a result, a lack of Xist expression. Our results collectively suggest that structural changes in the Xic occurred in the ancestral lineage of XO/XO species, likely due to the loss of one X chromosome and the Y chromosome as a consequence of the degradation of the XCI system.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"23-32"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140956719","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":"Dosage Effect of the Ph1 Locus on Homologous Crossovers in a Segment of Chromosome 1B of Bread Wheat (Triticum aestivum L.).","authors":"Adam J Lukaszewski","doi":"10.1159/000541484","DOIUrl":"10.1159/000541484","url":null,"abstract":"<p><strong>Introduction: </strong>The Ph1 locus in polyploid wheat enforces strictly bivalent behaviour in meiotic metaphase I, by preventing homoeologues from crossing over. It has always been considered as completely dominant as no homoeologous metaphase I pairing has ever been detected with its single dose present. However, Ph1 also affects pairing and crossing over of homologous chromosomes.</p><p><strong>Methods: </strong>Homologous crossover frequencies with Ph1 in two, one, and null doses were scored cytologically, as exchanges within a ca. 9.5-9.9 Mbp terminal wheat segment of a wheat-rye translocation T-9 and corresponding segments in chromosome arms 1BS originating from four wheat cultivars.</p><p><strong>Results: </strong>In all cases, the crossover rates in the tested homologous segment of wheat genome, with a single dose of Ph1 present, were intermediate between those at two and null Ph1 doses. Averaging across all four chromosomes, the crossover rate with a single dose of Ph1 present was 37% higher from that with two doses and 46.4% lower of that with a zero dosage.</p><p><strong>Conclusion: </strong>The Ph1 locus in wheat affects homologues and appears to operate in a dosage-dependent manner.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"165-169"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142281875","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":"Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1.","authors":"Yasuko Ogiwara, Yoshitomo Kobori, Erina Suzuki, Atsushi Hattori, Kanako Tanase-Nakao, Akiyoshi Osaka, Toshiyuki Iwahata, Hiroshi Okada, Yoko Kuroki, Maki Fukami","doi":"10.1159/000540634","DOIUrl":"10.1159/000540634","url":null,"abstract":"<p><strong>Introduction: </strong>Isodicentric Y chromosomes are relatively common structural variants of the human genome. The underlying mechanism of isodicentric Y chromosomes with short arm breakpoints [idic(Yq)] remains to be clarified.</p><p><strong>Case presentation: </strong>We encountered a Japanese man with azoospermia and mild short stature. G-banding and array-based comparative genomic hybridization indicated that his karyotype was 45,X/46,X,idic(Y)(qter→p11.32::p11.32→qter) with a ∼1.8 Mb terminal deletion. Whole-genome sequencing suggested that the Y chromosome had four breakpoints in a ∼7 kb region of the pseudoautosomal region 1 (PAR1).</p><p><strong>Conclusion: </strong>This case was assumed to have an idic(Yq) resulting from multiple DNA double-strand breaks in PAR1. This rearrangement may have been facilitated by the PAR1-specific chromatin architecture. The clinical features of the patient can be ascribed to SHOX haploinsufficiency and the presence of a 45,X cell line, although copy-number gains of some Yq genes and the size reduction of PAR1 may also contribute to his spermatogenic failure.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"133-138"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792196","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}