{"title":"Cytogenetic analysis and physical mapping of maize B chromosome deficiencies induced by the r-X1 deletion.","authors":"Zheng-Xiang Gao, Shu-Fen Peng, Ya-Ming Cheng","doi":"10.1007/s10577-026-09820-7","DOIUrl":"https://doi.org/10.1007/s10577-026-09820-7","url":null,"abstract":"<p><p>The r-X1 deletion can induce nondisjunction and terminal deficiencies in maize B and normal A chromosomes during megaspore division; however, to date, only one case of B chromosome deficiency (Bdef) with a breakpoint in the third distal heterochromatin of the B chromosome has been analyzed. In this study, we examined r-X1-containing progeny from maternal r-X1 plants carrying two B chromosomes, and an additional 18 potential Bdefs of varying lengths smaller than the B chromosome were observed, suggesting that the r-X1 deletion leads to random breakages of the B chromosome. Three of these Bdefs (designated Bdef-2, Bdef-3, and Bdef-5) with breakpoints in the proximal euchromatin, the second heterochromatin and the fourth heterochromatin of the B chromosome, respectively, were successfully propagated and further analyzed. Transmission analysis revealed that all three Bdefs lost the ability to undergo nondisjunction during the second pollen mitosis, whereas the presence of the B chromosome restored this ability. Furthermore, it is hypothesized that specific regions of the B chromosome existed to suppress the meiotic loss of univalent B chromosomes in both female and male plants. Finally, using these three Bdefs, eight B chromosome-specific polymerase chain reaction markers were physically mapped more precisely onto the B chromosome. Our results suggest that Bdefs induced by the r-X1 deletion can serve as a new resource for studying structure and function of the maize B chromosome.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225282","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}
Pio Sierra, Chenxi Zhou, Bettina Fischer, Sing Wei Lim, Moritz Blumer, Maxon Ngochera, Richard Durbin
{"title":"Near-complete genomes for nine haplochromine cichlid fishes reveal a novel centromeric satellite structure organised around a pair of inverted elements.","authors":"Pio Sierra, Chenxi Zhou, Bettina Fischer, Sing Wei Lim, Moritz Blumer, Maxon Ngochera, Richard Durbin","doi":"10.1007/s10577-026-09819-0","DOIUrl":"10.1007/s10577-026-09819-0","url":null,"abstract":"<p><p>The haplochromine cichlid fishes of Lake Malawi form one of the most dramatic examples of recent rapid radiation in vertebrates. Here we describe nine new diploid telomere-to-telomere (T2T) genome sequences generated using ultra-long ONT reads, eight from Lake Malawi cichlids and one from an outgroup, which include 78 ungapped chromosomes. We provide new annotations of transposable elements and tandem repeats, identify rDNA cluster regions and putative centromeres, and confirm previously reported large chromosomal inversions. The putative centromeres are primarily composed of satellite tandem arrays of previously reported 237 bp repeats, but notably on most chromosomes these are organised in a novel structure in which four blocks of satellites in alternating orientation are separated by an inverted pair of ~ 15 kb sequences we term \"centroids\", which have similarity to a non-autonomous DNA transposable element and containing potential CENP-B binding boxes. The methylation dip region indicating the likely active centromere always lies between the centroids, whose separation is almost always around 200 kb (interquartile range 151-221 kb). A structurally equivalent but non-homologous organisation is seen in the distantly related Etroplus cichlid genera from South Asia. By comparing these structures across chromosomes and species, we suggest how they may have evolved, and conjecture how this could contribute to the rampant sympatric speciation seen in these species, based on meiotic drive and chromosome missegregation.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13652916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149613","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}
Amber M Ridgway, Piero Lamelza, Michael A Lampson, Mia T Levine
{"title":"Cross-species incompatibilities offer new insights into the functional consequences of satellite DNA evolution.","authors":"Amber M Ridgway, Piero Lamelza, Michael A Lampson, Mia T Levine","doi":"10.1007/s10577-026-09816-3","DOIUrl":"10.1007/s10577-026-09816-3","url":null,"abstract":"<p><p>Tandemly repeated, non-coding satellite DNAs are among the most rapidly evolving genetic elements in eukaryotic genomes, changing in identity, copy number, and genomic distribution. A growing list of empirical studies suggests that this rapid evolution has profound consequences on core biological processes. Here, we review recent studies that investigate the satellite DNA-mediated biology revealed by generating either inter-species hybrids or genotypes expressing divergent, satellite DNA-interacting proteins from a closely related species. The genetic incompatibilities that arise implicate chromosome segregation, DNA repair, the establishment of silent heterochromatin, and the spatial organization of chromosomes as essential processes vulnerable to the rapid evolution of satellite DNA. We discuss emergent themes from this relatively young body of literature and future challenges for the field.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149065711","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}
Talita Fernanda Augusto Ribas, Cleusa Yoshiko Nagamachi, Melquezedec Luis Pinheiro, Patricia Caroline Mary O Brien, Malcolm Andrew Ferguson- Smith, Fengtang Yang, Alexandre Aleixo, Julio Cesar Pieczarka
{"title":"A cytogenetic analysis with chromosome painting in typical antbirds (Passeriformes, Thamnophilidae) and an inference on chromosome evolution in Passeriformes.","authors":"Talita Fernanda Augusto Ribas, Cleusa Yoshiko Nagamachi, Melquezedec Luis Pinheiro, Patricia Caroline Mary O Brien, Malcolm Andrew Ferguson- Smith, Fengtang Yang, Alexandre Aleixo, Julio Cesar Pieczarka","doi":"10.1007/s10577-026-09812-7","DOIUrl":"10.1007/s10577-026-09812-7","url":null,"abstract":"<p><p>The typical antbirds (Passeriformes, Thamnophilidae) are a monophyletic group comprising 225 species in 45 genera, primarily distributed in the lowland forests of the Neotropics. There is limited karyotypic information for this bird family, including chromosome morphology and diploid number (2n), highlighting the importance of understanding the evolutionary history of karyotypic diversification of this family. Few species in Thamnophilidae have been karyotyped to date, with observed diploid numbers ranging from 76 to 82 chromosomes. This study examined the karyotype of three Thamnophilidae species using chromosome painting: Phlegopsis nigromaculata, Thamnophilus aethiops, and Pyriglena leuconota. Whole chromosome probes from Burhinus oedicnemus (BOE) and Gallus gallus (GGA) were used, and results were compared with existing data. Additionally, three more species (Myrmotherula longipennis, Myrmoborus myotherinus, and Thamnomanes caesius) were analyzed using G-banding and/or Giemsa staining. All karyotypes aligned with the standard Aves and Passeriformes karyotype, displaying high diploid numbers (2n = 80 in Pyriglena leuconota, 2n = 82 in Thamnophilus aethiops, and 2n = 86 in Phlegopsis nigromaculata), few macrochromosomes, and numerous microchromosome pairs. Furthermore, our analysis with GGA probes in Thamnophilidae species corroborates the data observed in other Passeriformes families, indicating that the centric fission of GGA2 is a characteristic of Suboscines. Based on this result, we propose an ancestral karyotype for Suboscines that features the fission of GGA-2, which may offer a more robust explanation for the karyotypic diversity found among birds of the order Passeriformes.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13593799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149018906","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":"Chromosome painting in plants: history and future perspectives.","authors":"Jiming Jiang","doi":"10.1007/s10577-026-09818-1","DOIUrl":"10.1007/s10577-026-09818-1","url":null,"abstract":"<p><p>Chromosome painting was developed in mammalian species nearly four decades ago and rapidly became a powerful tool for chromosome identification, comparative cytogenetics, and evolutionary genome analysis. Comparative chromosome painting among diverse mammals generated much of the foundational knowledge of chromosome structure, chromosomal rearrangements, and karyotype evolution before the advent of whole-genome sequencing. Although chromosome painting was first demonstrated in plants in 2001, its applications remained largely restricted to a few plant lineages until the development of oligonucleotide (oligo)-based chromosome painting in 2015. During the last decade, oligo-based chromosome painting has transformed plant cytogenetics, enabling many investigations that were previously impossible. These studies have provided new insights into meiotic chromosome pairing, crossover formation, chromosome fusion, karyotype stability, and chromosome evolution across diverse plant lineages. This review summarizes the history of technological development of chromosome painting in plants, highlights major discoveries enabled by oligo-based chromosome painting, and discusses future opportunities, particularly the integration of chromosome painting with three-dimensional chromosome and genome biology.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13585861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148992329","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}
Felipe Lagreca Bitencourt, Gustavo Akira Toma, Luciano Cesar Pozzobon, Victor Cruz Cuervo, Ricardo Utsunomia, Maria Eduarda Gisloti-Ribeiro, Michel Octávio Fiorenço Capana, Raqueli Teresinha França, Marcelo de Bello Cioffi, Thales Renato Ochotorena de Freitas, Rafael Kretschmer
{"title":"Satellite DNA evolution in Tytonidae (Aves: Strigiformes): dynamic repeat landscapes despite conserved karyotypes.","authors":"Felipe Lagreca Bitencourt, Gustavo Akira Toma, Luciano Cesar Pozzobon, Victor Cruz Cuervo, Ricardo Utsunomia, Maria Eduarda Gisloti-Ribeiro, Michel Octávio Fiorenço Capana, Raqueli Teresinha França, Marcelo de Bello Cioffi, Thales Renato Ochotorena de Freitas, Rafael Kretschmer","doi":"10.1007/s10577-026-09817-2","DOIUrl":"10.1007/s10577-026-09817-2","url":null,"abstract":"<p><p>The elevated chromosome numbers observed in Tytonidae relative to the putative ancestral avian karyotype suggest that lineage-specific chromosomal fissions may have played an important role in the evolutionary history of this family. Here, we provide the first cytogenetic characterization of the American barn owl (Tyto furcata) and performs a comparative repeatome analysis across members of the Tytonidae, including other two species, the Western barn owl (Tyto alba), and the Oriental bay owl (Phodilus badius). The karyotype of T. furcata showed a 2n = 92, closely resembling that previously described for T. alba, indicating a high degree of chromosomal conservation within Tytonidae. Although T. furcata and T. alba exhibit similar karyotypic organization, comparative repeatomic analyses revealed differences in their composition, including variation in satellite DNA (satDNA) repertoires and abundance. Eight satDNA families were identified in T. furcata, nine in T. alba, and 28 in P. badius, highlighting the dynamic evolution of repetitive sequences. Several satDNA families were shared between T. furcata and T. alba, whereas some appeared species-specific, supporting the library hypothesis of satDNA evolution. In P. badius, multiple satDNAs exhibited similarity to transposable elements, suggesting that mobile elements contributed to their diversification. Cytogenetic analyses demonstrated centromeric heterochromatin distribution in T. furcata, as well as a large heterochromatic W chromosome enriched in DNA repeats. The localization of satDNAs in centromeric regions and the apparent accumulation of repeats on the W chromosome reinforce the role of repetitive sequences in chromosome organization and sex chromosome differentiation. Together, these findings reveal repeatome diversification despite conserved macrochromosomal structure and provide new insights into genome evolution and chromosomal dynamics in birds.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13582039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148983888","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}
Ana Mattioli Laborne, John S Heslop-Harrison, Gustavo C S Kuhn
{"title":"Satellite DNAs in Drosophila koepferae (repleta group) reveal patterns of origin, chromosomal organization, transcription, and turnover in the buzzatii cluster.","authors":"Ana Mattioli Laborne, John S Heslop-Harrison, Gustavo C S Kuhn","doi":"10.1007/s10577-026-09814-5","DOIUrl":"10.1007/s10577-026-09814-5","url":null,"abstract":"<p><p>Satellite DNAs (satDNAs) are non-coding tandem repeats that can comprise more than 20% of eukaryotic genomes. They contribute to structural and regulatory processes in the genome and often evolve rapidly, shaping early stages of genetic differentiation between populations and species. Although Drosophila has long served as a model for studying satDNA biology, little is known about satDNAs in non-model Drosophila species, particularly within the repleta group, one of the most species-rich lineages in the genus. To reduce such bias, several studies have focused on the buzzatii cluster (repleta group). However, D. koepferae remained the only species lacking comprehensive satDNA data, limiting comparative analyses. Here, we used publicly available genomic sequencing data from two D. koepferae populations (Argentina and Bolivia) to characterize their satDNA content. Both populations share the same set of five satDNAs (CDSTR8, CDSTR138, CDSTR230, DBC-150 and CDSTR177), which together account for ~ 0,9% of the genomic DNA. We show that CDSTR177 originated through amplification of an internal segment of the Galileo transposable element, an event restricted to D. koepferae. All satDNAs localize to heterochromatic regions, with CDSTR138 most likely associated to the centromeres of most chromosomes. Transcripts from all satDNAs were detected, although at low levels. Our results provide new insights into the origin, genomic contribution, expression and evolution of satDNAs in the buzzatii cluster, support incipient differentiation between Argentinean and Bolivian populations of D. koepferae and contribute to clarifying the phylogenetic position of this species within the buzzatii cluster.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13553610/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914189","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}
Samuel Vega-Estévez, Andrew Armitage, Bruce S Dien, Patricia J Slininger, Alessia Buscaino
{"title":"Structural genome variation drives adaptation of the xylose-fermenting yeast Scheffersomyces stipitis to lignocellulosic hydrolysates.","authors":"Samuel Vega-Estévez, Andrew Armitage, Bruce S Dien, Patricia J Slininger, Alessia Buscaino","doi":"10.1007/s10577-026-09813-6","DOIUrl":"10.1007/s10577-026-09813-6","url":null,"abstract":"<p><p>Second-generation (2G) bioethanol from lignocellulosic feedstocks is a sustainable alternative to fossil fuels. However, its production is constrained by the poor performance of industrial microbes in hydrolysates that are generated during biomass pretreatment. Scheffersomyces stipitis is a native xylose fermenting yeast and a promising platform for 2G bioethanol production, and adaptive evolution under hydrolysate stress has yielded strains with enhanced performance. However, the chromosomal basis of this adaptation is unknown. Here, we demonstrate that chromosome scale structural variation, rather than point mutations, underlies the improved phenotype of the evolved strains. By integrating long- and short-read genome sequencing, we identify two major chromosomal rearrangements in the top performing isolate: a reciprocal translocation between chromosomes 1 and 2 that disrupts the NUDIX hydrolase gene YSA1, and the formation of a mitotically stable 175 kb minichromosome derived from chromosome 5. Functional analyses show that disruption of YSA1 enhances xylose utilisation and ethanol yield, while the minichromosome contributes to improved performance in hydrolysate conditions. These findings provide direct evidence that balanced rearrangements and minichromosome formation can be selected during prolonged stress and can generate adaptive phenotypes. Taken together, our study establishes genome reorganisation as a key driver of adaptation in S. stipitis.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13538198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148882329","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}
Zhi-Chao Jia, Hong-Yu Liang, Yu-Han Xu, Ning He, Wu-Nan Che, Yue Shi, Hui Dong
{"title":"Heterochromatin protein 1 (HP1) dysfunction drives male-biased sex ratio in Trichogramma dendrolimi (Hymenoptera: Trichogrammatidae) via paternal genome elimination during mitosis.","authors":"Zhi-Chao Jia, Hong-Yu Liang, Yu-Han Xu, Ning He, Wu-Nan Che, Yue Shi, Hui Dong","doi":"10.1007/s10577-026-09811-8","DOIUrl":"10.1007/s10577-026-09811-8","url":null,"abstract":"<p><strong>Background: </strong>A male-biased sex ratio (MBS) is a widespread phenomenon in nature, which contributes to inbreeding avoidance, more efficient resource allocation, and the regulation of population dynamics. The factors driving MBS primarily involve genetic and chromosomal mechanisms, environmental conditions, and the influence of endosymbiotic microorganisms. However, the underlying molecular mechanism remains largely elusive. This study aims to investigate the role of Heterochromatin protein 1 (HP1) in driving an extreme MBS in the parasitic wasp Trichogramma dendrolimi (Hymenoptera: Trichogrammatidae).</p><p><strong>Results: </strong>An extremely male-biased T. dendrolimi line was identified from field collections, with a male offspring proportion of 80-100% (vs. 20-30% in the bisexual line). In this line, HP1 expression was significantly downregulated to 9% in male individuals compared to their counterparts in the bisexual line (p < 0.001). RNAi knockdown of HP1 in male pupae efficiently reduced its expression to 17%, 13%, and 21% of control levels at 12-, 24-, and 48 h post-injection, respectively (p < 0.01). HP1 depletion resulted in chromatin condensation defects and exclusive production of male offspring due to the haplodiploid sex-determination system, resembling those observed in male-biased line. Paternal origin of the abnormal chromatin was confirmed by internal transcribed spacer 2 of the ribosomal DNA (ITS2) sequence analysis.</p><p><strong>Conclusion: </strong>Our findings demonstrate that HP1 is a crucial regulator of chromatin dynamics underlying paternal genome elimination and sex ratio determination. This discovery not only advances our understanding of sex ratio manipulation in Hymenoptera but also identifies HP1 as a promising molecular target for enhancing the efficiency of parasitic wasps in biological pest control.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148686661","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":"MAD1L1 and MAD2L1 genes variants in spontaneous miscarriage with aneuploidy.","authors":"Narges Hosseini, Roxana Kariminejad, Parnaz Borjian Boroujeni, Amir Amiri-Yekta, Masood Bazrgar","doi":"10.1007/s10577-026-09810-9","DOIUrl":"10.1007/s10577-026-09810-9","url":null,"abstract":"<p><p>Aneuploidy accounts for over 57% of spontaneous abortions and occurs even in women of young reproductive age. Despite its major role in pregnancy loss, the genetic basis of fetal aneuploidy remains poorly characterized. This study evaluated the association of MAD1L1 and MAD2L1, two key spindle assembly checkpoint genes, with fetal aneuploidy in women younger than 36 years. Forty aborted fetuses with approved aneuploidy using array comparative genomic hybridization were enrolled in genotyping. The rs121908981 and rs121908982 pathogenic single nucleotide variants (SNVs) of exons 4 and 18 of MAD1L1 and all exons of MAD2L1 were studied in aneuploid fetuses using Sanger sequencing. Identified variants were classified based on ACMG guideline and their frequencies were compared with ethnically matched Iranome database. The effect of SNVs was predicted using the PredictSNP Webtool and Mobidetails database. No targeted pathogenic SNVs were identified in MAD1L1; however, nine other SNVs were detected. Among these, the rare Iranome variants rs1639921 and rs1481591257 were observed in the homozygous state in four and one POCs, respectively, and showed significantly different frequencies compared with Iranome (P < 0.005). The frequency of the deleterious MAD2L1 variant rs903147 did not differ from Iranome, although 15 POCs were homozygous for this variant. In addition, a novel 60-bp deletion in intron 4 of MAD1L1 was identified for the first time. Although more frequent in POCs, its frequency did not differ significantly from that in karyotypically normal controls. Collectively, the rare variants rs1639921 and rs1481591257 may be associated with aneuploidy in POCs.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148663842","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}