keyword
https://read.qxmd.com/read/38528911/a-case-report-of-pallister-killian-syndrome-with-an-unusual-mosaic-supernumerary-marker-chromosome-12-with-interstitial-12p13-1-p12-1-duplication
#1
JOURNAL ARTICLE
T V Karamysheva, I N Lebedev, L I Minaycheva, L P Nazarenko, A A Kashevarova, D A Fedotov, N A Skryabin, M E Lopatkina, A D Cheremnykh, E A Fonova, T V Nikitina, E A Sazhenova, M M Skleimova, N A Kolesnikov, G V Drozdov, Y S Yakovleva, G N Seitova, K E Orishchenko, N B Rubtsov
Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38525285/comparative-cytogenetics-of-microsatellite-distribution-in-two-tetra-fishes-astyanax-bimaculatus-linnaeus-1758-and-psalidodon-scabripinnis-jenyns-1842
#2
JOURNAL ARTICLE
Rodrigo Petry Corrêa de Sousa, Ivanete de Oliveira Furo, Gláucia Caroline Silva-Oliveira, Rosigleyse Corrêa de Sousa-Felix, Carla Denise Bessa-Brito, Raynara Costa Mello, Iracilda Sampaio, Roberto Ferreira Artoni, Edivaldo Herculano Corrêa de Oliveira, Marcelo Vallinoto
BACKGROUND: The main cytogenetic studies of the Characidae family comprise the genera Astyanax and Psalidodon involving the use of repetitive DNA probes. However, for the microsatellite classes, studies are still scarce and the function of these sequences in the genome of these individuals is still not understood. Thus, we aimed to analyze and compare the distribution of microsatellite sequences in the species Astyanax bimaculatus and Psalidodon scabripinnis . METHODS: We collected biopsies from the fins of A...
2024: PeerJ
https://read.qxmd.com/read/38478471/chromosome-ends-initiate-homologous-chromosome-pairing-during-rice-meiosis
#3
JOURNAL ARTICLE
Hanli You, Ding Tang, Huixin Liu, Yue Zhou, Yafei Li, Yi Shen, Zhiyun Gong, Hengxiu Yu, Minghong Gu, Jiming Jiang, Tao Zhang, Zhukuan Cheng
During meiotic prophase I, chromosomes undergo large-scale dynamics to allow homologous chromosome pairing, prior to which chromosome ends attach to the inner nuclear envelope and form a chromosomal bouquet. Chromosome pairing is crucial for homologous recombination and accurate chromosome segregation during meiosis. However, the specific mechanism by which homologous chromosomes recognize each other is poorly understood. Here, we investigated the process of homologous chromosome pairing during early prophase I of meiosis in rice (Oryza sativa) using pooled oligo probes specific to an entire chromosome or chromosome arm...
March 13, 2024: Plant Physiology
https://read.qxmd.com/read/38398689/first-cytogenetic-analysis-of-hemidactylus-mercatorius-gray-1842-provides-insights-on-interspecific-chromosomal-diversification-in-the-genus-hemidactylus-squamata-gekkonidae
#4
JOURNAL ARTICLE
Marcello Mezzasalma
This contribution provides the first karyotype description of Hemidactylus mercatorius and discusses the interspecific chromosome diversification in the genus. Chromosomal analysis was performed on samples from different Malagasy populations using standard karyotyping, Ag-NOR staining, and banding methods (sequential C-banding + Giemsa, + Chromomycin A3 , +4',6-diamidino-2-phenylindole). Irrespective of sex or sampling locality, H. mercatorius shows a karyotype of 2n = 42 with metacentric (1, 18-21), submetacentric (4), subtelocentric (5, 11), and acrocentric pairs (all the remaining pairs)...
January 25, 2024: Life
https://read.qxmd.com/read/38366660/differentiated-sex-chromosomes-karyotype-evolution-and-spontaneous-triploidy-in-carphodactylid-geckos
#5
JOURNAL ARTICLE
Pensabene Eleonora, Augstenová Barbora, Kratochvíl Lukáš, Rovatsos Michail
Geckos exhibit derived karyotypes without clear distinction between macrochromosomes and microchromosomes and intriguing diversity in sex determination mechanisms. We conducted cytogenetic analyses in six species from the genera Nephrurus, Phyllurus, and Saltuarius of the gecko family Carphodactylidae. We confirmed the presence of a female heterogametic system with markedly differentiated and heteromorphic sex chromosomes in all examined species, typically with the W chromosome notably larger than the Z chromosome...
February 15, 2024: Journal of Heredity
https://read.qxmd.com/read/38352399/genome-wide-maps-of-highly-similar-intrachromosomal-repeats-that-mediate-ectopic-recombination-in-three-human-genome-assemblies
#6
Luis Fernandez-Luna, Carlos Aguilar-Perez, Christopher M Grochowski, Michele Mehaffey, Claudia M B Carvalho, Claudia Gonzaga-Jauregui
UNLABELLED: Repeated sequences spread throughout the genome play important roles in shaping the structure of chromosomes and facilitating the generation of new genomic variation. Through a variety of mechanisms, repeats are involved in generating structural rearrangements such as deletions, duplications, inversions, and translocations, which can have the potential to impact human health. Despite their significance, repetitive regions including tandem repeats, transposable elements, segmental duplications, and low-copy repeats remain a challenge to characterize due to technological limitations inherent to many sequencing methodologies...
January 31, 2024: bioRxiv
https://read.qxmd.com/read/38298496/%C3%AF-assessment-of-quadrivalent-characteristics-influencing-chromosome-segregation-by-analyzing-human-preimplantation-embryos-from-reciprocal-translocation-carriers
#7
JOURNAL ARTICLE
Ziravard N Tonyan, Irina L Puppo, Alsu F Saifitdinova, Tatyana V Vavilova, Andrey S Glotov
Patterns of meiotic chromosome segregation were analyzed in cleavage stage and blastocyst stage human embryos from couples with autosomal reciprocal translocations (ART). The influence of quadrivalent asymmetry degree, the presence of terminal breakpoints, and the involvement of acrocentric chromosomes in the rearrangement were analyzed to evaluate their contribution to the formation of non-viable embryos with significant chromosomal imbalance due to pathological segregation patterns and to assess the selection of human embryos by the blastocyst stage...
2024: Comparative Cytogenetics
https://read.qxmd.com/read/38240312/monoallelically-expressed-noncoding-rnas-form-nucleolar-territories-on-nor-containing-chromosomes-and-regulate-rrna-expression
#8
JOURNAL ARTICLE
Qinyu Hao, Minxue Liu, Swapna Vidhur Daulatabad, Saba Gaffari, You Jin Song, Rajneesh Srivastava, Shivang Bhaskar, Anurupa Moitra, Hazel Mangan, Elizabeth Tseng, Rachel B Gilmore, Susan M Frier, Xin Chen, Chengliang Wang, Sui Huang, Stormy Chamberlain, Hong Jin, Jonas Korlach, Brian McStay, Saurabh Sinha, Sarath C Janga, Supriya Prasanth, Kannanganattu V Prasanth
Out of the several hundred copies of rRNA genes arranged in the nucleolar organizing regions (NOR) of the five human acrocentric chromosomes, ~50% remain transcriptionally inactive. NOR-associated sequences and epigenetic modifications contribute to the differential expression of rRNAs. However, the mechanism(s) controlling the dosage of active versus inactive rRNA genes within each NOR in mammals is yet to be determined. We have discovered a family of ncRNAs, SNULs (Single NUcleolus Localized RNA), which form constrained sub-nucleolar territories on individual NORs and influence rRNA expression...
January 19, 2024: ELife
https://read.qxmd.com/read/38014620/repositioning-of-centromere-associated-repeats-during-karyotype-evolution-in-oryzias-fishes
#9
JOURNAL ARTICLE
Satoshi Ansai, Atsushi Toyoda, Kohta Yoshida, Jun Kitano
The karyotype, which is the number and shape of chromosomes, is a fundamental characteristic of all eukaryotes. Karyotypic changes play an important role in many aspects of evolutionary processes, including speciation. In organisms with monocentric chromosomes, it was previously thought that chromosome number changes were mainly caused by centric fusions and fissions, whereas chromosome shape changes, that is, changes in arm numbers, were mainly due to pericentric inversions. However, recent genomic and cytogenetic studies have revealed examples of alternative cases, such as tandem fusions and centromere repositioning, found in the karyotypic changes within and between species...
November 28, 2023: Molecular Ecology
https://read.qxmd.com/read/37879860/localizing-unmapped-sequences-with-families-to-validate-the-telomere-to-telomere-assembly-and-identify-new-hotspots-for-genetic-diversity
#10
JOURNAL ARTICLE
Brianna Chrisman, Chloe He, Jae-Yoon Jung, Nate Stockham, Kelley Paskov, Peter Washington, Juli Petereit, Dennis P Wall
Although it is ubiquitous in genomics, the current human reference genome (GRCh38) is incomplete: It is missing large sections of heterochromatic sequence, and as a singular, linear reference genome, it does not represent the full spectrum of human genetic diversity. To characterize gaps in GRCh38 and human genetic diversity, we developed an algorithm for sequence location approximation using nuclear families (ASLAN) to identify the region of origin of reads that do not align to GRCh38. Using unmapped reads and variant calls from whole-genome sequences (WGSs), ASLAN uses a maximum likelihood model to identify the most likely region of the genome that a subsequence belongs to given the distribution of the subsequence in the unmapped reads and phasings of families...
October 25, 2023: Genome Research
https://read.qxmd.com/read/37870409/chromosome-analysis-and-the-occurrence-of-b-chromosomes-in-fish-parasite-acanthocephalus-anguillae-palaeacanthocephala-echinorhynchida
#11
JOURNAL ARTICLE
Martina Orosová, Anna Marková, Magda Zrzavá, František Marec, Mikuláš Oros
The cytogenetics of Acanthocephala is a neglected area in the study of this group of endoparasites. Chromosome number and/or karyotypes are known for only 12 of the 1,270 described species, and molecular cytogenetic data are limited to rDNA mapping in two species. The standard karyological technique and mapping of 18S rRNA and H3 histone genes on the chromosomes of Acanthocephalus anguillae individuals from three populations, one of which originated from the unfavorable environmental conditions of the Zemplínska Šírava reservoir in eastern Slovakia, were applied for the first time...
2023: Parasite: Journal de la Société Française de Parasitologie
https://read.qxmd.com/read/37807876/live-born-autosomal-ring-chromosomes-at-the-johns-hopkins-hospital-cytogenomics-laboratory-case-series-spanning-52%C3%A2-years-of-experience-in-a-single-center
#12
JOURNAL ARTICLE
Shivani Kushwaha, Victoria Stinnett, Ying S Zou, Jaclyn B Murry
Ring chromosomes (RCs) are a structural aberration that can be tolerated better in acrocentric or gonosomal chromosomes. Complete RCs arise from telomere-telomere fusions. Alternatively, genomic imbalances corresponding to the ends of the chromosomal arms can be seen with RC formation. RCs are unstable in mitosis, result in mosaicism, and are associated with a "ring syndrome," which presents with growth and development phenotypes and differs from those features more frequently observed with pure terminal copy number changes...
October 9, 2023: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/37686460/chromosomal-rearrangements-and-satellite-dnas-extensive-chromosome-reshuffling-and-the-evolution-of-neo-sex-chromosomes-in-the-genus-pyrrhulina-teleostei-characiformes
#13
JOURNAL ARTICLE
Renata Luiza Rosa de Moraes, Francisco de Menezes Cavalcante Sassi, Jhon Alex Dziechciarz Vidal, Caio Augusto Gomes Goes, Rodrigo Zeni Dos Santos, José Henrique Forte Stornioli, Fábio Porto-Foresti, Thomas Liehr, Ricardo Utsunomia, Marcelo de Bello Cioffi
Chromosomal rearrangements play a significant role in the evolution of fish genomes, being important forces in the rise of multiple sex chromosomes and in speciation events. Repetitive DNAs constitute a major component of the genome and are frequently found in heterochromatic regions, where satellite DNA sequences (satDNAs) usually represent their main components. In this work, we investigated the association of satDNAs with chromosome-shuffling events, as well as their potential relevance in both sex and karyotype evolution, using the well-known Pyrrhulina fish model...
September 4, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37656321/chromosome-evolution-in-iberolacerta-a-genus-that-deviates-from-the-standard-karyotype-formula-of-lacertidae
#14
JOURNAL ARTICLE
Horacio Naveira, Verónica Rojo, Iván Gómez-Seoane, Malcolm A Ferguson-Smith, Jorge C Pereira, Andrés Martínez-Lage
This paper describes the preparation of flow-sorted chromosome paints from the Iberian Rock lizard Iberolacerta monticola, exemplifying their subsequent use in cross-species comparisons of chromosome painting. We carried out comparative analyses of chromosome evolution in the congeneric species I. galani and I. bonnali, as well as in two other species of Lacertini (Lacerta schreiberi and Timon lepidus) whose sex chromosomes were also studied through comparative genomic hybridization. Most species of Lacertini possess a diplod number of 2n = 38, with 36 acrocentric macrochromosomes and 2 microchromosomes...
September 1, 2023: Genetica
https://read.qxmd.com/read/37510391/multiple-chromosome-fissions-including-that-of-the-x-chromosome-in-aulacocyclus-tricuspis-kaup-coleoptera-passalidae-from-new-caledonia-characterization-of-a-rare-but-recurrent-pathway-of-chromosome-evolution-in-animals
#15
JOURNAL ARTICLE
Bernard Dutrillaux, Anne-Marie Dutrillaux, Karen Salazar, Stéphane Boucher
The male karyotype of Aulacocyclus tricuspis Kaup 1868 (Coleoptera, Scarabaeoidea, Passalidae, Aulacocyclinae) from New Caledonia contains an exceptionally high number of chromosomes, almost all of which are acrocentric (53,X1X2Y). Unlike the karyotypes of other species of the pantropical family Passalidae, which are principally composed of metacentric chromosomes, this karyotype is derived by fissions involving almost all the autosomes after breakage in their centromere region. This presupposes the duplication of the centromeres...
July 21, 2023: Genes
https://read.qxmd.com/read/37491593/comparative-studies-of-x-chromosomes-in-cervidae-family
#16
JOURNAL ARTICLE
Anastasia A Proskuryakova, Ekaterina S Ivanova, Alexey I Makunin, Denis M Larkin, Malcolm A Ferguson-Smith, Fengtang Yang, Olga V Uphyrkina, Polina L Perelman, Alexander S Graphodatsky
The family Cervidae is the second most diverse in the infraorder Pecora and is characterized by variability in the diploid chromosome numbers among species. X chromosomes in Cervidae evolved through complex chromosomal rearrangements of conserved segments within the chromosome, changes in centromere position, heterochromatic variation, and X-autosomal translocations. The family Cervidae consists of two subfamilies: Cervinae and Capreolinae. Here we build a detailed X chromosome map with 29 cattle bacterial artificial chromosomes of representatives of both subfamilies: reindeer (Rangifer tarandus), gray brocket deer (Mazama gouazoubira), Chinese water deer (Hydropotes inermis) (Capreolinae); black muntjac (Muntiacus crinifrons), tufted deer (Elaphodus cephalophus), sika deer (Cervus nippon) and red deer (Cervus elaphus) (Cervinae)...
July 25, 2023: Scientific Reports
https://read.qxmd.com/read/37479825/co-occurrence-of-acrocentric-chromosome-associations-with-dicentric-chromosomes-in-irradiated-human-lymphocytes
#17
JOURNAL ARTICLE
Ravindra M Samarth, Puneet Gandhi, Nabo Kumar Chaudhury
PURPOSE: The occurrence of acrocentric chromosome association (ACA) after radiation exposure is an interesting cytogenetic endpoint, known to show a dose-dependent increase in irradiated lymphocytes suggesting its potential use in radiation biodosimetry. Here, an attempt was made to study the complexity and correlation of the occurrence of ACA with dicentric chromosomes (DC) in lymphocytes exposed to gamma radiation. METHODS: Ninety metaphases each with DC and without DC were chosen randomly from lymphocytes irradiated with different doses (0, 1, 2, 3, 4 and 5 Gy) of gamma radiation...
July 21, 2023: Strahlentherapie und Onkologie: Organ der Deutschen Röntgengesellschaft ... [et Al]
https://read.qxmd.com/read/37469885/%C3%AF-karyotype-of-sabanejewiabulgarica-drensky-1928-teleostei-cobitidae-from-the-danube-delta-romania
#18
JOURNAL ARTICLE
Eva Hnátková, Zuzana Majtánová, Vendula Bohlen Šlechtová, Joerg Bohlen, Petr Ráb
The karyotype of the freshwater fish Sabanejewiabulgarica (Drensky, 1928), from the Danube Delta, was studied by conventional Giemsa staining and the C-banding technique. The diploid chromosome number was 2n = 50. The karyotype contained 2 pairs of metacentric (the first one was much larger than the second one), 6 pairs of submetacentric and 17 pairs of subtelocentric to acrocentric chromosomes. Pericentromeric blocks of heterochromatin were revealed in most of the chromosome pairs. The karyotype phenotype of S...
2023: Comparative Cytogenetics
https://read.qxmd.com/read/37165241/recombination-between-heterologous-human-acrocentric-chromosomes
#19
JOURNAL ARTICLE
Andrea Guarracino, Silvia Buonaiuto, Leonardo Gomes de Lima, Tamara Potapova, Arang Rhie, Sergey Koren, Boris Rubinstein, Christian Fischer, Jennifer L Gerton, Adam M Phillippy, Vincenza Colonna, Erik Garrison
The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications1,2 . Although the resolution of these regions in the first complete assembly of a human genome-the Telomere-to-Telomere Consortium's CHM13 assembly (T2T-CHM13)-provided a model of their homology3 , it remained unclear whether these patterns were ancestral or maintained by ongoing recombination exchange. Here we show that acrocentric chromosomes contain pseudo-homologous regions (PHRs) indicative of recombination between non-homologous sequences...
May 2023: Nature
https://read.qxmd.com/read/37075062/long-read-dna-sequencing-recent-advances-and-remaining-challenges
#20
REVIEW
Peter E Warburton, Robert P Sebra
DNA sequencing has revolutionized medicine over recent decades. However, analysis of large structural variation and repetitive DNA, a hallmark of human genomes, has been limited by short-read technology, with read lengths of 100-300 bp. Long-read sequencing (LRS) permits routine sequencing of human DNA fragments tens to hundreds of kilobase pairs in size, using both real-time sequencing by synthesis and nanopore-based direct electronic sequencing. LRS permits analysis of large structural variation and haplotypic phasing in human genomes and has enabled the discovery and characterization of rare pathogenic structural variants and repeat expansions...
August 25, 2023: Annual Review of Genomics and Human Genetics
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