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Query: UNIPROT:P06889 (Mol)
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Further analysis of hybrid clones from an experimental cross of Trypanosoma brucei rhodesiense 058 and T. b. brucei 196 shows 2 of the hybrid clones to have DNA contents about 1.5 times parental values. This represents over 40,000 kb of extra DNA. Comparison of the molecular karyotypes of parental and progeny trypanosomes shows that the bulk of the extra DNA constitutes chromosomes greater than 1 Mb in size, although a small proportion can be accounted for by an increased number of mini-chromosomes. The 2 hybrid clones have 3 alleles at several loci for housekeeping genes as shown by RFLP and isoenzyme analysis. Trisomy of the chromosome carrying phosphoglycerate kinase and tubulin genes and that carrying the phospholipase C gene was demonstrated by analysis of molecular karyotypes. These chromosomes appear prone to substantial size alterations associated with genetic exchange. Our results for one of the hybrid clones are completely consistent with it being triploid and the product of fusion of haploid and diploid nuclei.
Mol Biochem Parasitol 1992 Apr
PMID:Trisomy and chromosome size changes in hybrid trypanosomes from a genetic cross between Trypanosoma brucei rhodesiense and T. b. brucei. 134 22

Major advances have occurred in the understanding of the genetics of DS since the discovery a little more than 30 years ago that it resulted from an extra copy of HSA-21. It has been learned that only a small region of HSA-21 is required in triplicate to produce at least some of the DS phenotype. Future work will clarify which regions are responsible for particular phenotypes of interest. The mechanisms by which extra genetic material leads to phenotypic abnormalities in DS and other aneuploidies appear to be complex. Although gene dosage effects are operative for many loci, they do not appear to be strictly operative for all genes. A more thorough understanding of the effects of aneuploidy on gene expression is needed. To understand adequately the mechanisms by which extra genetic material leads to particular phenotypic features will require the use of animal models. The trisomy 16 mouse, as well as new transgenic and partial trisomic mouse lines currently being developed, may be of particular help in this endeavor.
Mol Genet Med 1992
PMID:The molecular genetics of Down syndrome. 145 22

The objectives of this study were to compare the fertilization rate of bovine in vitro matured oocytes by in vitro fertilization (IVF) and by microinjection of a single spermatozoon (MI) and to relate these rates with fertility reported for these bulls in artificial breeding. Bull A (Holstein) had a nonreturn rate of 75%. Semen from this bull is routinely used in our standard IVF procedure. Bull B (Ayrshire), used regularly in artificial breeding and related to bull D, had a nonreturn rate of 69.2%. Bull C (Brown Swiss), with a chromosomal translocation and trisomy, achieved a nonreturn rate of 42%. Bull D (Ayrshire) produced nonmotile spermatozoa (SPZ) and had an abnormality described as "tail stump defect." No pregnancies sired by bull D have been reported. Oocytes were either fertilized in vitro by capacitated SPZ or by microinjection of a single immobilized SPZ into the ooplasm. SPZ were treated with 0.1 microM A23187 and used for IVF. For microinjection SPZ were cocultured for 5 h with bovine oviduct epithelial cells (BOEC) and then immobilized by freezing and thawing twice without cryoprotectant. A single batch of killed SPZ (stored at -25 degrees C) was used for all microinjections. All oocytes were cultured in Medium 199 for 22 h at 39 degrees C and subsequently fixed, stained, and examined for evidence of fertilization (i.e., female and male pronucleus formation, SPZ decondensation). Fertilization rates following IVF with semen from bulls A, B, C, and D were 80%, 54%, 1%, and 2%, and following microinjection were 39%, 22%, 21%, and 34%, respectively.
Mol Reprod Dev 1992 Dec
PMID:A comparison between in vitro fertilization and microinjection of immobilized spermatozoa from bulls producing spermatozoa with defects. 147 79

The gene encoding for pre-prosomatostatin is located on chromosome 16 of the mouse. To determine the effect of an extra copy of this gene on somatostatin expression in neurons, primary disaggregated cultures of neocortex prepared from 15 days gestational Trisomy 16 mice and their littermate euploid controls were subjected to immunocytochemical staining for somatostatin, neuropeptide Y and glutamic acid decarboxylase. The results demonstrate a selective and significant increase in the number of somatostatin-immunoreactive neurons.
Brain Res Mol Brain Res 1990 Apr
PMID:Increased number of somatostatin-immunoreactive neurons in primary cultures of trisomy 16 mouse neocortex. 197 Aug 46

The human gene encoding the beta subunit of S-100 protein (S-100 beta) was mapped on chromosome 21. In order to confirm the expression of gene-dosage effect of S-100 beta in patients with Down's syndrome (DS), concentrations of immunoreactive S-100 alpha and S-100 beta proteins were determined in the blood plasma and lymphocytes fraction of the patients and control subjects. Cu/Zn-superoxide dismutase (SOD), a protein that is known to show the gene-dosage effect on the trisomy of chromosome 21, also was immunoassayed in the same blood samples as control proteins. In blood plasma, S-100 beta protein as well as Cu/Zn SOD was enhanced (P less than 0.001) in the patients (160 +/- 70 pg S-100 beta/ml and 87 +/- 83 ng SOD/ml, N = 44) as compared with control individuals (76 +/- 25 pg/ml, and 18 +/- 11 ng/ml, respectively, N = 28). However, concentrations of S-100 alpha in blood plasma of DS patients were similar to those of normal subjects. Concentrations of S-100 beta in lymphocyte fractions of DS patients (24.7 +/- 10.9 ng/mg protein) were also higher (P less than 0.001) than those of control subjects (10.1 +/- 5.8 ng/mg protein). These results indicate that gene-dosage effect of S-100 beta levels are expressed in DS patients.
J Mol Neurosci 1990
PMID:Enhancement of S-100 beta protein in blood of patients with Down's syndrome. 215 Mar 20

Using a direct cytogenetic technique, we identified a nonrandom trisomy of chromosome 6 in 12 of 12 aneuploid mouse skin papillomas and in 10 of 11 squamous cell carcinomas induced by chemical carcinogenesis. The second most common abnormality observed was trisomy of chromosome 7 found in most dysplastic papillomas and in 10 of 11 carcinomas. The two trisomies were the only abnormalities found in all aneuploid papillomas and in several carcinomas. Mutation at codon 61 of the Ha-ras gene, which resides on chromosome 7, was also a common feature of the tumors sampled. Extensive homology exists between mouse chromosome 6 and human chromosome 7, the trisomy of which was recently suggested as a primary cytogenetic event in several human epithelial cancers. We propose a multistep model of tumor progression in which a sequence of specific nonrandom chromosomal abnormalities appear to be required for malignant transformation.
Mol Carcinog 1989
PMID:Sequential trisomization of chromosomes 6 and 7 in mouse skin premalignant lesions. 249 43

Two cell lines with different in vitro growth characteristics were established from a single mucinous colonic adenocarcinoma. Epithelial cells of the line 5583-E demonstrated anchorage-dependent growth while those of line 5583-S were anchorage-independent and grew as multicellular floating spheroids. Both cell lines shared common characteristics with respect to the expression of differentiation markers (secretory component, carcinoembryonic antigen), mucins and karyotype (trisomy 12 and 14, marker chromosome) but also showed consistent differences. In nude mice 5583-S cells formed moderately differentiated mucinous adenocarcinomas with high carcinoembryonic antigen and mucin production, whereas 5583-E xenografts were poorly differentiated and almost entirely failed to produce carcinoembryonic antigen and mucins. The plating efficiency of 5583-E cells appeared to be greater and doubling time shorter than those of 5583-S cells. Furthermore, 5583-E cells showed an extra isochromosome, 1q. The cell lines were genotypically and phenotypically stable over a period of 2 years. Our results reemphasize that multiple cell lines with heterogeneous phenotypic and genotypic characteristics can be obtained from a single primary tumor.
Virchows Arch B Cell Pathol Incl Mol Pathol 1987
PMID:The establishment and characterization of two new cell lines derived from a single human colonic adenocarcinoma. 289 Feb 31

The degradation rate of long-lived and short-lived proteins was determined in diploid fibroblasts and fibroblasts with trisomy 7 derived from human embryos. Two fractions of proteins were detected in the exponentially growing diploid fibroblasts with half-lives (T 1/2) 37 and 19 hours. The rate of protein degradation increases in diploid fibroblasts as they approach confluence and protein fractions with T 1/2 30, 18 and 12 hours appear. The rate of protein degradation in trisomic fibroblasts does not change for the long-lived and short-lived proteins and is the same in both exponential (T 1/2 31 and 14 hours) and stationary phase (T 1/2 33 and 17 hours). The relative amount of the short-lived proteins in trisomic fibroblasts in the stationary phase decreased as compared with the one in diploid fibroblasts. It is apparent that a mechanism of regulation of protein catabolism in trisomic fibroblasts is impaired.
Mol Gen Mikrobiol Virusol 1988 May
PMID:[Kinetics of protein degradation in diploid and trisomic human fibroblasts]. 341 61

Collagen and fibronectin synthesis by trisomic and triploid fibroblasts derived from human spontaneous abortuses was studied. It was demonstrated that the level of fibronectin and collagen production in fibroblasts with trisomy 7, trisomy 9, and triploidy was reduced as compared with diploid cells. A correlation between this observation and an increased rate of intracellular 14C-procollagen degradation was also established for the anomalous strains. No difference in hydroxylation of 14C-proline residues in alpha 1(I) and alpha 2(I) collagen chains and no fluctuation in the collagen type (I): type III ratio was found in the strains with the abnormal karyotypes. It was concluded that differentiation of the abnormal fibroblasts was impaired. The data also favour the hypothesis that the deficiency of the fibroblasts in producing proteins may account for a variety of anatomic abnormalities of embryos.
Mol Gen Genet 1987 Oct
PMID:Collagen and fibronectin synthesis by trisomic and triploid fibroblasts from human spontaneous abortuses. 348 Oct 17

Chromosome changes accompanying differentiation and tumorigenesis in azacytidine- (azaC) and insulin-induced preadipocytes of the Chinese hamster embryo fibroblast cell line CHEF/18 are described. Karyotype analysis of 47 clones, subclones, and tumor-derived cells has shown that trisomy for chromosome 3q (mar 1) is characteristic of azaC preadipocytes but not of insulin preadipocytes. AzaC preadipocytes were consistently tumorigenic as well as trisomic for chromosome 3q, whereas most insulin preadipocytes were nontumorigenic and diploid. Only the few insulin preadipocytes that were tumorigenic were also trisomic for chromosome 3q. Among the tumor-derived cell lines recovered from azaC preadipocytes injected into nude mice, four had no additional chromosome changes except trisomy for 3q, as detected by karyotype analysis. Thus trisomy for 3q may be a sufficient chromosome change to induce tumor-forming ability in these cells. The rearrangements of chromosome 3 seen in this and other work pinpoint the trisomic region between the centromere and 3q5.
Somat Cell Mol Genet 1984 Sep
PMID:Genetic analysis of tumorigenesis: XVI. Chromosome changes in azacytidine- and insulin-induced tumorigenesis. 620 76


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