CYTOLOGICAL ASPECT OF THE X-CHROMOSOME DIFFERENTIATION IN NORMAL AND ABNORMAL CELLS

1965 ◽  
Vol 7 (2) ◽  
pp. 189-201 ◽  
Author(s):  
Barid B. Mukherjee
2021 ◽  
Author(s):  
Iulia Darolti ◽  
Lydia J. M. Fong ◽  
Judith E. Mank

AbstractAn accelerated rate of sequence evolution on the X chromosome compared to autosomes, known as Fast-X evolution, has been observed in a range of heteromorphic sex chromosomes. However, it remains unclear how early in the process of sex chromosome differentiation the Fast-X effect becomes detectible. Recently, we uncovered an extreme variation in sex chromosome heteromorphism across Poeciliid fish species. The common guppy, Poecilia reticulata, Endler’s guppy, P. wingei, and the swamp guppy, P. picta, appear to share the same XY system and exhibit a remarkable range of heteromorphism. The sex chromosome system is absent in recent outgroups, including P. latipinna and Gambusia holbrooki. We combined analyses of sequence divergence and polymorphism data across Poeciliids to investigate X chromosome evolution as a function of hemizygosity and reveal the causes for Fast-X effects. Consistent with the extent of Y degeneration in each species, we detect higher rates of divergence on the X relative to autosomes and a strong Fast-X effect in P. picta, while no change in the rate of evolution of X-linked relative to autosomal genes in P. reticulata. In P. wingei, the species with intermediate sex chromosome differentiation, we see an increase in the rate of nonsynonymous substitutions on the older stratum of divergence only. We also use our comparative approach to test different models for the origin of the sex chromosomes in this clade. Taken together, our study reveals an important role of hemizygosity in Fast-X and suggests a single, recent origin of the sex chromosome system in this clade.


1989 ◽  
Vol 37 (3) ◽  
pp. 385 ◽  
Author(s):  
JM Watson

The protherian mammals consist of three species: the platypus, the Australian echidna and the Niugini echidna. These mammals diverged from the therian line of descent about 150-200 million years ago; hence comparisons of gene arrangements and gene control mechanisms between prototherian and therian mammals may yield significant data about gene rearrangements during mammalian evolution and about the evolution of complex genetic control systems. The chromosome complements of the three monotreme species are highly conserved. In particular, the X (or X1) chromosomes are G-band identical and share considerable G-band homology with the Y chromosomes. Replication asynchrony between X chromosomes suggests that X chromosome inactivation operates in females, and is apparently tissue- specific (as it is in marsupials), and confined to the differential region of the X (X1) chromosome (as it is in eutherian mammals). These results suggest that sex chromosome differentiation in the monotremes represents an intermediate stage in the evolution of the dimorphic sex chromosomes of therian mammals and that X-chromosome inactivation may also represent a comparatively primitive stage. Studies of gene location in the platypus using platypus-rodent cell hybrids suggested that HPRT and PGK are syntenic in the platypus, but it was not possible to assign the syntenic group to a particular chromosome. In situ hybridisation was used to assign three genes, located on the X in eutherians and marsupials, to the monotreme X. However, human X short-arm markers were found by in situ hybridisation to be autosomal in monotremes (as they are in marsupials). A model for the evolution of mammalian sex chromosome differentiation and X-chromosome inactivation is presented in which a gradual reduction of the Y chromosome, and recruitment of newly unpaired loci on the X into a system of X-chromosome inactivation, has accompanied eutherian evolution.


Genes ◽  
2020 ◽  
Vol 11 (8) ◽  
pp. 849
Author(s):  
Alexandr Sember ◽  
Michaela Pappová ◽  
Martin Forman ◽  
Petr Nguyen ◽  
František Marec ◽  
...  

Spiders are an intriguing model to analyse sex chromosome evolution because of their peculiar multiple X chromosome systems. Y chromosomes were considered rare in this group, arising after neo-sex chromosome formation by X chromosome-autosome rearrangements. However, recent findings suggest that Y chromosomes are more common in spiders than previously thought. Besides neo-sex chromosomes, they are also involved in the ancient X1X2Y system of haplogyne spiders, whose origin is unknown. Furthermore, spiders seem to exhibit obligatorily one or two pairs of cryptic homomorphic XY chromosomes (further cryptic sex chromosome pairs, CSCPs), which could represent the ancestral spider sex chromosomes. Here, we analyse the molecular differentiation of particular types of spider Y chromosomes in a representative set of ten species by comparative genomic hybridisation (CGH). We found a high Y chromosome differentiation in haplogyne species with X1X2Y system except for Loxosceles spp. CSCP chromosomes exhibited generally low differentiation. Possible mechanisms and factors behind the observed patterns are discussed. The presence of autosomal regions marked predominantly or exclusively with the male or female probe was also recorded. We attribute this pattern to intraspecific variability in the copy number and distribution of certain repetitive DNAs in spider genomes, pointing thus to the limits of CGH in this arachnid group. In addition, we confirmed nonrandom association of chromosomes belonging to particular CSCPs at spermatogonial mitosis and spermatocyte meiosis and their association with multiple Xs throughout meiosis. Taken together, our data suggest diverse evolutionary pathways of molecular differentiation in different types of spider Y chromosomes.


Author(s):  
Iracema M. Baccarini

Some morphological nuclear features (invaginations) in normal and abnormal cells have been described in several electron microscopic studies. They have been referred to by others as blebs, loops, pockets, sheets, bodies, nuclear inclusions and cytoplasmic invaginations. Identical appearing structures were found in cells of the uterine cervical epithelium, in trophoblasts of blastocysts and in trophoblasts of rat placenta.Methods. Uterine cervix (normal rats), rat placenta (9-10 days gestation) and blastocyst were placed in 3% glutarahdehyde for 3 hours. The tissue was washed in phosphate buffer for 24 hours, postfixed in 1%. buffered osmium tetroxide for 1-2 hours and embedded in epon araldite. Sections were double stained with uranyl acetate and lead citrate and viewed in E. M. Siemens 200.Observations. Nuclear invaginations were found in basal, parabasal and mucous cells of the cervix epithelium, in trophoblasts of blastocyst and in trophoblasts of placenta. An oval, round or elongated invagination contained heterogenously cytoplasm surrounded by a double intact membrane; usually several invaginations were found in the same nucleus.


1963 ◽  
Vol 42 (1) ◽  
pp. 97-100
Author(s):  
Mirjam Furuhjelm ◽  
Birgit Johnson ◽  
C.-G. Lagergren

ABSTRACT The pattern of the 17-ketosteroid excretion determined according to Johnsen (1956) in a group of 33 sterile men was compared with that in another group of 14 men with proved fertility, and no difference was found. No correlation between 17-ketosteroid excretion and the concentration of sperm cells or the percentage of abnormal cells could be detected. The results are discussed.


Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).


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