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Results for “Chromosome Structures”

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At least 307 records · Page 17Linked to original sources
PubMed1982

Numerical and structural chromosome aberrations in cultured lymphocytes and cutaneous fibroblasts of patients with multiple adenomas of the colorectum.

Excessive random loss and gain of simple chromosomes at the diploid and tetraploid levels, and numerous chromosomal aberrations, have been observed in lymphocytes and fibroblasts, cultured from Gardner syndrome and familial polyposis coli patients and children at risk for multiple adenomas. This increase in numerical and structural aberrations seems to represent a general instability of chromosomes in the lymphocyte and fibroblast nuclei of patients with multiple adenomas in the colorectum. A consistent heteromorphism of chromosome No. 2 homologous tentatively identified as a deletion was observed in all 17 patients with multiple adenomas in the colorectum, and two younger people of 13 and six years of age who are at risk for Gardner syndrome but do not have colorectal polyps. The chromosome No. 2 aberration was not observed in two symptomatic patients with occasional discrete colorectal adenomas.Eighteen controls who did not have Gardner syndrome nor familial polyposis coli did not show the structural aberration in chromosome No. 2 nor chromosome instability.

Adenoma↗
PubMed1991

Chromosome banding and gene localizations support extensive conservation of chromosome structure between cattle and sheep.

By using three gene probes, one derived from the porcine major histocompatibility complex (MHC) and two from bovine cytokeratin genes, type I (KRTA) and type II (KRTB), the hypothesis of conservation of genome structure in two members of the family Bovidae was examined. Gene mapping data revealed the MHC to be in chromosome region 23q15----q23 in cattle (BOLA) and 20q15----q23 in sheep (OLA). KRTA was localized to chromosome region 19q25----q29 in cattle and 11q25----q29 in sheep and KRTB to 5q14----q22 in cattle and 3q14----q22 in sheep. The banding patterns of the chromosome arms to which the loci were assigned were identical in both species. Moreover, the resemblances of GTG- or QFQ-banding patterns between the cattle and sheep karyotypes illustrated further chromosome homologies. These studies, based on gene mapping comparisons and comparative cytogenetics, document that within bovid chromosomes, homology of banding patterns corresponds to a homologous genetic structure. Hence, we propose that gene assignments on identified chromosomal segments in one species of the Bovidae can be extrapolated, in general, to other bovid species based on the banding homologies presented here.

Animals↗
PubMed2001

Probing chromosome structure with dynamic force relaxation.

We report measurements of the dynamics of force relaxation in single mitotic chromosomes, following step strains applied with micropipettes of force constant approximately 1 nN/microm. The force relaxes exponentially after an elongation (l/l(0)) to less than 3x native length, with a relaxation time approximately 2 sec. This relaxation time corresponds to an effective viscosity approximately 10(5) times that of water. We experimentally rule out solvent flow into the chromosome as the mechanism for the relaxation time. Instead, the relaxation can be explained in terms of the disentanglement dynamics of approximately 80 kb chromatin loop domains.

Animals↗
PubMed1986

Evolution of cell and chromosome structure in eukaryote.

The analysis of the data so far available indicates that eukaryotic chromosome with splicing characteristics appeared quite early in evolution possibly parallel and not sequential to the prokaryotic system. The endosymbiotic origin of the eukaryotic cell involved a primitive undifferentiated unicellular eukaryote and a photosynthetic or non-photosynthetic microbe. Certain regulatory genes of extra-cellular organelles were transferred later through molecular hybridization to the nucleus. The evolution of multicellularity and sexual reproduction led to the origin of innumerable eukaryotic forms in the late precambrian period. This new concept of the author can account for the evolution of complex eukaryotic chromosome and harmonious functioning of extra-cellular organelles with the nucleus. The concept also explains the sudden spurt of innumerable eukaryotic fossils at the early palaeozoic era.

Animals↗
PubMed1992

[RFLPs study of parental origin and mechanism of 3 cases with X chromosome structural abnormality].

In this study, we analysed the parental origin and mechanism of X chromosome abnormalities in 3 cases by using RFLPs on short or long arm of X chromosome as genetic markers. Their karyotypes were 46,X,dup(X)(p21); 46,X,del(X)(p11); 46,X,i(Xq). The results demonstrated that the dup(X)(p21) and the del(X)(p11) were of paternal origin and i(Xq) was of maternal origin. The dup(X)(p21) arose from an unequal sister chromatid exchange. The del(X) (p11) occurred through X chromosome breakage and deletion mechanism. The i(Xq) resulted from X chromosome centromere misdivision in oocyte.

Adolescent↗
PubMed1990

[Incidence of structural chromosomal abnormalities in spermatogenesis in man].

Infertility due to gametogenic failure is frequently associated with structural autosomal abnormalities. Recent meiotic studies at the pachytene stage undertaken in human infertile heterozygous carriers for such rearrangements have regularly shown a synaptic failure around the breakpoints, an association of the translocation figure with the sex chromosomes and the frequent involvement of the acrocentric chromosomes. Two main models were proposed to explain the male sterilizing effect of autosomal rearrangements: the impairment of spermatogenesis could be the result of: 1) the XY-autosome interaction; 2) the pairing disruption around the breakpoints at the pachytene stage. They could contribute significantly to germ-cell atresia.

Chromosome Aberrations↗
PubMed1989

Frequency and distribution of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG)-induced structural chromosome aberrations in fibroblasts from sarcoma and non-Hodgkin's lymphoma patients.

The frequency and distribution of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG)-induced structural aberrations, i.e., chromatid and chromosome gaps, breaks, and exchanges, were studied in fibroblasts from 16 patients with sarcoma, 15 with non-Hodgkin's lymphoma (NHL), and 14 controls. The mean frequencies of aberrant cells, and gap, break, and gap + break events per 100 cells were 22.9, 5.1, 28.6, and 33.7 in the sarcoma group; 19.1, 5.0, 22.5, and 27.5 in the NHL group; and 23.5, 6.1, 33.5, and 39.6 in the control group. None of the differences between the groups were statistically significant. The distribution of MNNG-induced aberrations was non-random (P less than 0.001) in all 3 groups. Eight, 11, and 17 chromosome bands in the sarcoma, NHL, and control groups, respectively, were particularly break-prone. Only 2 hot spots in the sarcoma group (1p32, 11q23), and 3 in the NHL group (1p36, 3q25, 6p21), coincided with the 25 and 60 bands known to be involved in primary rearrangements in sarcomas and NHL. We conclude that neither the frequency nor the distribution of MNNG-induced chromosomal aberrations indicates any latent chromosomal instability in sarcoma and NHL patients.

Chromosome Aberrations↗
PubMed2006

Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement.

We measured the occurrence of cancer in an unselected cohort of carriers of constitutional structural rearrangements in virtually complete nationwide registries for cancer and constitutional cytogenetic abnormalities. We identified 4,816 carriers of a constitutional structural rearrangement in the Danish Cytogenetic Registry and searched for cancer diagnoses by linkage to the Danish Cancer Registry. There was no overall increased risk for cancer among carriers (standardized incidence ratio [SIR], 0.96; 95% confidence interval [CI], 0.84-1.10), and no significant difference from that expected was found in balanced and unbalanced rearrangements or in any subtypes of rearrangements. We found significantly lower risks for carriers with rearrangements involving chromosome 21 (SIR, 0.50; 95% CI, 0.22-0.99) and for paternally inherited rearrangements (SIR, 0.30; 95% CI, 0.06-0.88). Risk estimates for the observed type-specific cancers showed an increased risk for non-Hodgkin lymphoma (SIR, 2.11; 95% CI, 1.09-3.69). However, subgroup analyses were not guided by study hypotheses, and our statistical evaluation of the data should be looked upon as exploratory. In addition, we found 12 constitutional structural rearrangements with a breakpoint potentially associated with a cancer-related gene. Potential new loci associated with type-specific cancers were suggested by the findings of families with more than one affected carrier and by the involvement of the same cytogenetic bands in unrelated carriers. Molecular mapping of these breakpoints might provide new insight into cancer predisposition.

Adolescent↗
PubMedDate not supplied

[Chromosome structure, histones and gene activity in Drosophila].

The problem to be reviewed in this study concerns the mechanism of regulation of gene activity relied on the structural changes of the chromatin. The role of histones in the regulation of transcription is discussed on the basis of the results obtained by the authors and literature data. In particular, the results are presented of the investigations of decrease of the histone amount in the cell nucleus using the deficiency of histone structural genes. This leads both to the increase of the X-chromosome template activity and the inhibition of variegated position effect. The latter is also inhibited by feeding of larvae with T2-DNA. It is supposed that the chromatin structure is a mechanism of epigenetic changes and the gene inactivation due to the position effect inherited in cell lineages in an example of such epigenetic changes.

Animals↗