Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

2020 ◽  
Vol 160 (3) ◽  
pp. 118-123
Author(s):  
Takema Kato ◽  
Miki Kawai ◽  
Shunsuke Miyai ◽  
Fumihiko Suzuki ◽  
Makiko Tsutsumi ◽  
...  
Keyword(s):  
Natural Selection ◽  
Cell Lines ◽  
Sex Chromosome ◽  
The Other ◽  
Aneuploid Cell ◽  
Snp Microarray ◽  
Molecular Cytogenetic ◽  
Autosomal Trisomy ◽  
Cytogenetic Analyses ◽  
Mosaic Aneuploidy

We present 2 cases of double mosaic aneuploidy harboring 2 or more different aneuploid cell lines, but no line with a normal chromosome constitution. One of these cases presented mosaicism of sex chromosome aneuploid cell lines (47,XXX/45,X) along with another line containing an autosomal trisomy (47,XX,+8), while the other case showed mosaicism of 2 different autosomal trisomy cell lines (47,XY,+5 and 47,XY,+8). To elucidate the mechanisms underlying these mosaicisms, we conducted molecular cytogenetic analyses. Genotyping data from the SNP microarray indicated that 2 sequential meiotic or early postzygotic segregation errors likely had occurred followed by natural selection. These cases suggest that frequent segregation errors and selection events in the meiotic and early postzygotic stages lead to this condition.

Evolution and the meaning of metaphase

1992 ◽  
Vol 102 (4) ◽  
pp. 681-690
Author(s):  
R.B. Nicklas ◽  
P. Arana
Keyword(s):  
Cell Cycle ◽  
Quality Control ◽  
Control System ◽  
Natural Selection ◽  
Sex Chromosome ◽  
Spindle Pole ◽  
The Other ◽  
Quality Control System ◽  
Normal Sperm ◽  
Unpaired Chromosome

We used an evolutionary test to ask whether the congression of chromosomes to the spindle equator is important in itself or just a mitotic happenstance. If congression matters, then it might evolve if absent initially. Previous workers established that newly made trivalents, meiotic units of three chromosomes, generally do not congress to the spindle equator. Instead, these young trivalents lie close to the pole to which two of the three chromosomes are oriented. We studied ancient sex-chromosome trivalents that arose hundreds of thousands to several million years ago in several species of praying mantids and one grasshopper. All these old trivalents lie near the spindle equator at metaphase; some of them congress as precisely to the equator as the ordinary chromosomes in the same cells. We conclude that congression evolved independently two or three times in the materials studied. Therefore, the metaphase position of chromosomes midway between the poles appears to matter, but why? In the praying mantids, the evident answer is that metaphase is a quality-control checkpoint. Sometimes the three chromosomes are not associated in a trivalent but rather are present as a bivalent plus an unpaired chromosome, which lies near one pole. Earlier workers showed that such cells are blocked in metaphase and eventually degenerate; this prevents the formation of sperm with abnormal combinations of sex chromosomes. We suggest that the quality-control system would have trouble distinguishing an unpaired chromosome from an uncongressed, newly arisen trivalent, both of which would lie near a spindle pole. If so, the confused quality-control system would block anaphase imprudently, causing a loss of cells that would have produced normal sperm. Hence, we conclude that the congression of the trivalent to the equator probably evolved along with the metaphase quality-control checkpoint. The mechanism of congression in old trivalents is uncertain, but probably involves an interesting force-sensitive regulation of the motors associated with particular chromosomes. We also examined the congression of two newly made quadrivalents when they orient with three kinetochores to one pole and one to the other. As others have described, one of these quadrivalents does not congress, while the other quadrivalent comes closer than expected to the spindle equator. Such variation in the extent of congression may provide materials on which natural selection can act, leading to the evolution of congression. The trivalents of praying mantids are attractive materials for further studies of the mechanism of congression and of the idea that metaphase is a checkpoint for progression through the cell cycle.

scholarly journals Tracking the Evolutionary Trends Among Small-Size Fishes of the Genus Pyrrhulina (Characiforme, Lebiasinidae): New Insights From a Molecular Cytogenetic Perspective

2021 ◽  
Vol 12 ◽  
Author(s):  
Renata Luiza Rosa de Moraes ◽  
Francisco de Menezes Cavalcante Sassi ◽  
Luiz Antonio Carlos Bertollo ◽  
Manoela Maria Ferreira Marinho ◽  
Patrik Ferreira Viana ◽  
...  
Keyword(s):  
Repetitive Dna ◽  
Sex Chromosome ◽  
Comparative Genomic ◽  
Comparative Genome Hybridization ◽  
Molecular Cytogenetic ◽  
Rdna Sites ◽  
Previous Hypothesis ◽  
History Of ◽  
Cytogenetic Analyses ◽  
High Dynamics

Miniature fishes have always been a challenge for cytogenetic studies due to the difficulty in obtaining chromosomal preparations, making them virtually unexplored. An example of this scenario relies on members of the family Lebiasinidae which include miniature to medium-sized, poorly known species, until very recently. The present study is part of undergoing major cytogenetic advances seeking to elucidate the evolutionary history of lebiasinids. Aiming to examine the karyotype diversification more deeply in Pyrrhulina, here we combined classical and molecular cytogenetic analyses, including Giemsa staining, C-banding, repetitive DNA mapping, comparative genomic hybridization (CGH), and whole chromosome painting (WCP) to perform the first analyses in five Pyrrhulina species (Pyrrhulina aff. marilynae, Pyrrhulina sp., P. obermulleri, P. marilynae and Pyrrhulina cf. laeta). The diploid number (2n) ranged from 40 to 42 chromosomes among all analyzed species, but P. marilynae is strikingly differentiated by having 2n = 32 chromosomes and a karyotype composed of large meta/submetacentric chromosomes, whose plesiomorphic status is discussed. The distribution of microsatellites does not markedly differ among species, but the number and position of the rDNA sites underwent significant changes among them. Interspecific comparative genome hybridization (CGH) found a moderate divergence in the repetitive DNA content among the species’ genomes. Noteworthy, the WCP reinforced our previous hypothesis on the origin of the X1X2Y multiple sex chromosome system in P. semifasciata. In summary, our data suggest that the karyotype differentiation in Pyrrhulina has been driven by major structural rearrangements, accompanied by high dynamics of repetitive DNAs.

scholarly journals How did the guppy Y chromosome evolve?

PLoS Genetics ◽  
2021 ◽  
Vol 17 (8) ◽  
pp. e1009704
Author(s):  
Deborah Charlesworth ◽  
Roberta Bergero ◽  
Chay Graham ◽  
Jim Gardner ◽  
Karen Keegan
Keyword(s):  
Natural Selection ◽  
Y Chromosome ◽  
X Chromosome ◽  
Sex Chromosome ◽  
Genetic Recombination ◽  
The Other ◽  
Y Chromosomes ◽  
Suppressed Recombination ◽  
Close Relatives ◽  
Male Coloration

The sex chromosome pairs of many species do not undergo genetic recombination, unlike the autosomes. It has been proposed that the suppressed recombination results from natural selection favouring close linkage between sex-determining genes and mutations on this chromosome with advantages in one sex, but disadvantages in the other (these are called sexually antagonistic mutations). No example of such selection leading to suppressed recombination has been described, but populations of the guppy display sexually antagonistic mutations (affecting male coloration), and would be expected to evolve suppressed recombination. In extant close relatives of the guppy, the Y chromosomes have suppressed recombination, and have lost all the genes present on the X (this is called genetic degeneration). However, the guppy Y occasionally recombines with its X, despite carrying sexually antagonistic mutations. We describe evidence that a new Y evolved recently in the guppy, from an X chromosome like that in these relatives, replacing the old, degenerated Y, and explaining why the guppy pair still recombine. The male coloration factors probably arose after the new Y evolved, and have already evolved expression that is confined to males, a different way to avoid the conflict between the sexes.

scholarly journals Chromosomal Analysis in Crotophaga ani (Aves, Cuculiformes) Reveals Extensive Genomic Reorganization and an Unusual Z-Autosome Robertsonian Translocation

Cells ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 4
Author(s):  
Rafael Kretschmer ◽  
Ricardo José Gunski ◽  
Analía del Valle Garnero ◽  
Thales Renato Ochotorena de Freitas ◽  
Gustavo Akira Toma ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Rare Event ◽  
Chromosome Morphology ◽  
Z Chromosome ◽  
Molecular Cytogenetic ◽  
Intrachromosomal Rearrangements ◽  
Genomic Reorganization

Although cytogenetics studies in cuckoos (Aves, Cuculiformes) have demonstrated an interesting karyotype variation, such as variations in the chromosome morphology and diploid number, their chromosome organization and evolution, and relation with other birds are poorly understood. Hence, we combined conventional and molecular cytogenetic approaches to investigate chromosome homologies between chicken and the smooth-billed ani (Crotophaga ani). Our results demonstrate extensive chromosome reorganization in C. ani, with interchromosomal rearrangements involving macro and microchromosomes. Intrachromosomal rearrangements were observed in some macrochromosomes, including the Z chromosome. The most evolutionary notable finding was a Robertsonian translocation between the microchromosome 17 and the Z chromosome, a rare event in birds. Additionally, the simple short repeats (SSRs) tested here were preferentially accumulated in the microchromosomes and in the Z and W chromosomes, showing no relationship with the constitutive heterochromatin regions, except in the W chromosome. Taken together, our results suggest that the avian sex chromosome is more complex than previously postulated and revealed the role of microchromosomes in the avian sex chromosome evolution, especially cuckoos.

Molecular cytogenetic characterization of del(7q) in two uterine leiomyoma-derived cell lines

1997 ◽  
Vol 18 (3) ◽  
pp. 155-161 ◽  
Author(s):  
Roberta Vanni ◽  
Susanna Marras ◽  
Eric F. P. M. Schoenmakers ◽  
Paola Dal Cin ◽  
Bernd Kazmierczak ◽  
...  
Keyword(s):  
Cell Lines ◽  
Uterine Leiomyoma ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations

2003 ◽  
Vol 127 (12) ◽  
pp. 1565-1572
Author(s):  
Susan H. Bernacki ◽  
Daniel H. Farkas ◽  
Wenmei Shi ◽  
Vivian Chan ◽  
Yenbou Liu ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Cell Lines ◽  
Molecular Genetic ◽  
Hereditary Hemochromatosis ◽  
The Other ◽  
Molecular Diagnostic ◽  
Molecular Genetic Testing ◽  
Diagnostic Applications ◽  
Lymphocyte Cell

Abstract Context.—Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular diagnostic applications. Owing to the novelty of these devices, demonstrations of their successful use in practical diagnostic applications are limited. Objective.—To assess the performance of the eSensor bioelectronic method in the validation of 6 Epstein-Barr virus–transformed blood lymphocyte cell lines with clinically important mutations for use as sources of genetic material for positive controls in clinical molecular genetic testing. Two cell lines carry mutations in the CFTR gene (cystic fibrosis), and 4 carry mutations in the HFE gene (hereditary hemochromatosis). Design.—Samples from each cell line were sent for genotype determination to 6 different molecular genetic testing facilities, including the laboratory developing the DNA biochips. In addition to the bioelectronic method, at least 3 different molecular diagnostic methods were used in the analysis of each cell line. Detailed data were collected from the DNA biochip output, and the genetic results were compared with those obtained using the more established methods. Results.—We report the successful use of 2 applications of the bioelectronic platform, one for detection of CFTR mutations and the other for detection of HFE mutations. In all cases, the results obtained with the DNA biochip were in concordance with those reported for the other methods. Electronic signal output from the DNA biochips clearly differentiated between mutated and wild-type alleles. This is the first report of the use of the cystic fibrosis detection platform. Conclusions.—Bioelectronic sensors for the detection of disease-causing mutations performed well when used in a “real-life” situation, in this case, a validation study of positive control blood lymphocyte cell lines with mutations of public health importance. This study illustrates the practical potential of emerging bioelectronic DNA detection technologies for use in current molecular diagnostic applications.

Paranemin and the organization of desmin filament networks

2001 ◽  
Vol 114 (6) ◽  
pp. 1079-1089 ◽  
Author(s):  
S.C. Schweitzer ◽  
M.W. Klymkowsky ◽  
R.M. Bellin ◽  
R.M. Robson ◽  
Y. Capetanaki ◽  
...  
Keyword(s):  
Cell Lines ◽  
Intermediate Filament ◽  
Transgene Expression ◽  
De Novo ◽  
Muscle Cells ◽  
The Other ◽  
Intermediate Filament Proteins ◽  
Mouse Fibroblasts ◽  
Filament Networks ◽  
Filament Network

De novo expression of vimentin, GFAP or peripherin leads to the assembly of an extended intermediate filament network in intermediate filament-free SW13/cl.2 cells. Desmin, in contrast, does not form extended filament networks in either SW13/cl.2 or intermediate filament-free mouse fibroblasts. Rather, desmin formed short thickened filamentous structures and prominent spot-like cytoplasmic aggregates that were composed of densely packed 9–11 nm diameter filaments. Analysis of stably transfected cell lines indicates that the inability of desmin to form extended networks is not due to a difference in the level of transgene expression. Nestin, paranemin and synemin are large intermediate filament proteins that coassemble with desmin in muscle cells. Although each of these large intermediate filament proteins colocalized with desmin when coexpressed in SW-13 cells, expression of paranemin, but not synemin or nestin, led to the formation of an extended desmin network. A similar rescue of desmin network organization was observed when desmin was coexpressed with vimentin, which coassembles with desmin, or with keratins, which formed a distinct filament network. These studies demonstrate that desmin filaments differ in their organizational properties from the other vimentin-like intermediate filament proteins and appear to depend upon coassembly with paranemin, at least when they are expressed in non-muscle cells, in order to form an extended filament network.

Sex-chromosome anaphase movements in crane-fly spermatocytes are coordinated: ultraviolet microbeam irradiation of one kinetochore of one sex chromosome blocks the movements of both sex chromosomes

1987 ◽  
Vol 88 (4) ◽  
pp. 441-452
Author(s):  
JULIA A. M. SWEDAK ◽  
ARTHUR FORER
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
The Other ◽  
Signal System ◽  
Spindle Fibre ◽  
Spindle Axis ◽  
Ultraviolet Microbeam ◽  
Block Motion ◽  
Block Movement ◽  
Spindle Fibres

Sex chromosomes in crane-fly spermatocytes move polewards at anaphase after the autosomes have reached the poles. In Nephrotoma abbreviate the sex chromosomes are 8 μm long by 3.5 μm wide and have two orientations when they move: the long axis of the sex chromosome is either perpendicular or parallel to the spindle axis. We assume (1) that when a sex chromosome is perpendicular to the spindle axis it has a chromosomal spindle fibre to each pole, one from each kinetochore, as in other species; and (2) that when a sex chromosome is parallel to the spindle axis each kinetochore has spindle fibres to both poles, i.e. that the latter sex chromosomes are maloriented. We irradiated one kinetochore of one sex chromosome using an ultraviolet microbeam. When both sex chromosomes were normally oriented, irradiation of a single kinetochore permanently blocked movement of both sex chromosomes. Irradiation of non-kinetochore chromosomal regions or of spindle fibres did not block movement, or blocked movement only temporarily. We argue that ultraviolet irradiation of one kinetochore blocks movement of both sex chromosomes because of effects on a ‘signal’ system. The results were different when one sex chromosome was maloriented. Irradiation of one kinetochore of a maloriented sex chromosome did not block motion of either sex chromosome. On the other hand, irradiation of one kinetochore of a normally oriented sex chromosome permanently blocked motion of both that sex chromosome and the maloriented sex chromosome. We argue that for the signal system to allow the sex chromosomes to move to the pole each sex chromosome must have one spindle fibre to each pole.

Fire-Setting Behavior in Individuals With Klinefelter Syndrome

PEDIATRICS ◽  
1988 ◽  
Vol 82 (1) ◽  
pp. 115-117
Author(s):  
MARVIN E. MILLER ◽  
STEPHEN SULKES
Keyword(s):  
Criminal Behavior ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Mental Deficiency ◽  
The Other ◽  
Sexual Deviation ◽  
Reactive Depression ◽  
Y Chromosomes ◽  
Psychiatric Problems ◽  
Chromosome Disorder

Klinefelter syndrome is a sex chromosome disorder with an incidence of approximately two per 1,000 male newborns.1 Eighty percent of individuals with Klinefelter syndrome are 47,XXY, whereas the other 20% have a variant sex chromosomal constitution with additional supernumerary X or Y chromosomes (ie, 48,XXXY, 48XXYY) or are mosaic.2 Individuals with Klinefelter syndrome have small testes which usually cannot produce sperm or normal amounts of testosterone. The results of this are infertility and undermasculinization. Behavioral and psychiatric problems are also common in individuals with Klinefelter syndrome and include personality disorder, reactive depression, schizophrenia, mental deficiency, sexual deviation, criminal behavior, and alcoholism.3

Sign in / Sign up

Export Citation Format

Share Document