Double chromosomal aberration

Summary Simultaneous occurrence of the trisomy G and of any other autosomal aberration is rare. The authors detected familial balanced translocation t(3p-; 17q+) in three members of a family. One child possessed this translocation and moreover trisomy G. It does not seem that there might be any relationship between the occurrence of the translocation and the aneuploidy.     

Larch chromosomal mosaicism

Karyological study of larch population members from different parts of the Larix olgensis L. Henry areal in the Primorskii krai has been carried out. The main amount of chromosomes for larch as n = 12 (2n = 24) has been confirmed. Mixoploidy was observed in all studied populations. The difference of individuals from the larch areal based on the cell amount with a different level of ploidity has been found in the population of L. olgensis locus classicus and both L. sibirica and L. gmelinii, which is probably a consequence of their hybrid nature.     

Constitutional chromosomal breakage

Summary There were 18 individuals found to have a constitutional chromosome fragility causing an increase in break frequency. For each chromosome the breakpoint is always the same, whether it involves chromosomes from the same person, the same family, or different families. The fragile points are bands 10q24, 12q13, 16q21, 17p12, and Xq27. Autosomal constitutional fragility does not seem to have a phenotypic correspondence. They were found mostly in parents of children with chromosomal abnormalities or in couples with a history of repeated spontaneous abortions which permits one to raise the possibility of an interchromosomal effect. The six constitutional chromosomal fragilities of the X chromosome had in common the association of mental deficiency, delayed speech, and large malformed ears. The break points in constitutional chromosomal fragility were compared to those of spontaneous breaks in vitro, to those induced by X-rays, and to those in Fanconi's anemia. The theoretical consequences of these structural abnormalities are discussed as well as what to do about them when they are found.This study was supported by I.N.S.E.R.M. (C.R.L. No. 7510424).Text of the communication presented at the Symposium on Medical Genetics, Debrecen-Hajduszoboszlo, Hungary, 27–29 april 1976.     

Human chromosomal polymorphism

Chromosomal Q-polymorphism was studied in 198 Kirghiz subjects (98 males and 100 females) from one high-altitude isolate located in the south-eastern part of Kirghizia. Small samples of mountaineers (N = 37) and volunteer subjects (N = 34) were also studied. The samples studied did not differ significantly from each other in the relative frequencies of chromosomal variants in 12 loci of seven Q-polymorphic autosomes. The mean number of Q variants per individual in the populations ranged from 1.3 to 2.0. No sex differences were found in the frequencies of Q variants. The observed homo- and heteromorphic frequencies agreed with those predicted by the law of Hardy-Weinberg. The possible selective value of chromosomal Q heterochromatin material in the adaptation of human populations to high-altitude climate is discussed.     

Complex chromosomal rearrangements

Complex Chromosomal Rearrangements (CCRs) are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. CCRs preferentially occur during spermatogenesis and are transmitted in families through oogenesis. Recent investigation showed that CCRs are more complex and more common than initially appreciated. Here 1 present an overview of CCRs, including the important impact of CCRs in fertility, the mechanism of their development, the various meiotic errors that can occur and their consequences. The review also discusses the differential transmission of CCRs in males and females, the incidence of pregnancy outcomes of CCR carriers, genetic counseling and prenatal diagnosis.     

Human chromosomal polymorphism

Summary Chromosomal Q polymorphism was studied in 157 adolescents of Yakut nationality (67 males and 90 females) living in Eastern Siberia, on the territory of the Yakut ASSR. Of the 157 subjects, 123 had chromosomal Q variants while 34 (21.7%) had no Q-heterochromatin bands with fluorescence levels 4 and 5. The mean number of Q variants per individual ranged from 0 to 5, with a mean of 1.64. No differences were observed in the frequency of Q variants between sexes. The observed homo- and heteromorph frequencies always agreed with those predicted by the law of Hardy-Weinberg. Of the 157 subjects, four (2.55%) had pericentric inversion of the Q-heterochromatin band in chromosome 3. The following topics are discussed: (1) possible selective value of chromosomal Q-heterochromatin material in the adaptation of human populations to extreme environmental factors, in particular to cold; (2) the taxonomic value of chromosomal Q polymorphism in ethnic anthropology.     

Heterochromatin and chromosomal aberration in microtus agrestis: role of chromosomal association

Mitomycin C (MC) -induced chromatid aberrations among the chromosomes of Microtus agrestis are preferentially localized in the constitutive heterochromatic regions, i.e., major part of the sex chromosomes and the centromeric regions of the autosomes. In the sex chromosomes, intrachanges predominate, while interchanges between the two X chromosomes are very rare. This pattern of distribution of different types of aberrations is interpreted as due to the individual chromocentres that are formed by the two X chromosomes in the interphase.     

Sexually antagonistic chromosomal cuckoos

The two kinds of sex chromosomes in the heterogametic parent are transmitted to offspring with different sexes, causing opposite-sex siblings to be completely unrelated for genes located on these chromosomes. Just as the nest-parasitic cuckoo chick is selected to harm its unrelated nest-mates in order to garner more shared resources, sibling competition causes the sex chromosomes to be selected to harm siblings that do not carry them. Here we quantify and contrast this selection on the X and Y, or Z and W, sex chromosomes. We also develop a hypothesis for how this selection can contribute to the decay of the non-recombining sex chromosome.     

Rearrangements and chromosomal evolution

Comparisons of the genome sequences of related species suggests varying patterns of chromosomal rearrangements in different evolutionary lineages. In this review, I focus on the quantitative characterization of rearrangement processes and discuss specific inventories that have been compiled to date. Of particular interest are the statistical distribution of the lengths of inverted or locally transposed chromosome fragments (notably very short ones), inhomogeneities in susceptibility to evolutionary breakpoints in chromosomal regions, the relative importance of genome doubling in the history of multicellular eukaryotes, and of lateral transfer versus gene gain and loss in prokaryotes. These developments provide challenges to computational biologists to refine, revise and scale up mathematical models and algorithms for analyzing genome rearrangements.     

Subunits of chromosomal DNA

A study of chromosomal DNA from Chinese hamster cells and chick fibroblasts by electron microscopy after partial denaturation revealed small regions which melted at 50° and could be stabilized by reaction with formaldehyde. The melted regions remained open so that their length and distribution along the DNA strands could be measured. The measurements indicated regularly spaced sites with low melting points at 0.4–0.5 micron intervals in most of the DNA. The length of the melted regions varied from those just visible to some as long as 0.4–0.5 microns, which probably represents the entire region between two successive sites with low melting points. A computer analysis of the spacings indicated a high probability of melted sites occurring every 2 microns along the DNA strands. Both of these spacings correspond to functional subunits of the DNA which can be isolated under appropriate metabolic conditions.     

Stably DNA-bound chromosomal proteins

DNA accomplishes its biological function in a complex with nuclear proteins. A minor protein fraction has been found in chromatin which could not be dissociated from DNA by reagents abolishing non-covalent type of interactions. The controversy surrounding the nature of the protein moiety and the nature of the bond linking the two components on the one hand, and the fact pointing to its evolutionary conservatism and metabolic stability on the other, make it necessary to critically evaluate the data in view of the possible biological function for such proteins.     

Minor chromosomal variants and major chromosomal anomalies in couples with recurrent abortion.

One hundred three women with prior histories of recurrent spontaneous abortion and 81 of their mates were karyotyped with Q-banding during 1976-1980. Recurrent abortion was defined as two or more spontaneous pregnancy losses; no couple with a previous malformed fetus or child was included. These cases were reviewed in order to examine the possible contributions of minor polymorphic chromosomal variants and major chromosomal abnormalities to recurrent spontaneous pregnancy loss. Balanced translocations were detected in four women and two men in the study; mosaic X aneuploidy was noted in one woman. Quantitative (1 qh, 9qh, 16qh, Yqh) and qualitative (3c, 4c, 13p, 13s, 14p, 14s, 15p, 15s, 21p, 21s, 22p, 22s) heterochromatic polymorphisms were blindly assessed and compared with a control group. Cases and controls did not differ in the frequency of any qualitative polymorphisms or in the length of any quantitative polymorphism. Thus, while major parental cytogenetic aberrations are significantly associated with fetal wastage, these data suggest that minor polymorphic chromosomal variants do not play an important role in the etiology of recurrent spontaneous abortion.     

Transfer of chromosomal material. Association of rescuable sarcoma virus genome with chromosomal fraction

An attempt was made to transfer the murine sarcoma virus genome from cryptically transformed HT-1 cells to hamster embryo cells via isolated chromosomes (chromosome immigration). Chromosome immigration did not result in any transformation of recipient embryo cells. However, there was transfer of a rescuable sarcoma virus genome. Evidence indicates that the transfer requires the intact chromosome structure. It was not possible to identify one or any chromosome associated with the rescuable sarcoma genome.