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PubMed2006

Comparative polytene chromosome maps of D. montana and D. virilis.

Chromosomal inversion polymorphism was characterized in Finnish Drosophila montana populations. A total of 14 polymorphic inversions were observed in Finnish D. montana of which nine had not been described before. The number of polymorphic inversions in each chromosome was not significantly different from that expected, assuming equal chance of occurrence in the euchromatic genome. There was, however, no correlation between the number of polymorphic inversions and that of fixed inversions in each chromosome. Therefore, a simple neutral model does not explain the evolutionary dynamics of inversions. Furthermore, in contrast to results obtained by others, no significant correlation was found between the two transposable elements (TEs) Penelope and Ulysses and inversion breakpoints in D. montana. This result suggests that these TEs were not involved in the creation of the polymorphic inversions seen in D. montana. A comparative analysis of D. montana and Drosophila virilis polytene chromosomes 4 and 5 was performed with D. virilis bacteriophage P1 clones, thus completing the comparative studies of the two species.

Animals↗
PubMed1988

Inversion of chromosome 5 long arm in region of cell growth gene cluster in hematologic disorders.

Inversions of the long (q) arm of chromosome #5 are reported in five cases with hematologic disorders. Inversion of 5q with breakpoints in bands 5q13 and 5q33 was found in two cases with lymphoid malignancy and in two cases of myeloid hematologic malignancy. Because an inversion of 5q with breakpoints in 5q22 and 5q33 was also found in a case with myeloproliferative syndrome, the common denominator in these five cases was band 5q33. An extraordinary cluster of genes affecting cell growth and differentiation is present on 5q and may be altered by the chromosome rearrangement of 5q in hematologic disorders.

Adult↗
PubMed2004

Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas.

Although somatic mutations in a number of genes have been associated with development of human tumors, such as lipomas, relatively few examples exist of germline mutations in these genes. Here we describe an 8-year-old boy who has a de novo pericentric inversion of chromosome 12, with breakpoints at p11.22 and q14.3, and a phenotype including extreme somatic overgrowth, advanced endochondral bone and dental ages, a cerebellar tumor, and multiple lipomas. His chromosomal inversion was found to truncate HMGA2, a gene that encodes an architectural factor involved in the etiology of many benign mesenchymal tumors and that maps to the 12q14.3 breakpoint. Similar truncations of murine Hmga2 in transgenic mice result in somatic overgrowth and, in particular, increased abundance of fat and lipomas, features strikingly similar to those observed in the child. This represents the first report of a constitutional rearrangement affecting HMGA2 and demonstrates the role of this gene in human growth and development. Systematic genetic analysis and clinical studies of this child may offer unique insights into the role of HMGA2 in adipogenesis, osteogenesis, and general growth control.

Abnormalities, Multiple↗
PubMed1977

Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter).

Cytogenetic analysis after conventional staining and Q-banding demonstrated a pericentric inversion of chromosome 14 in the mother of a child with a mental retardation/multiple congenital abnormality syndrome and an abnormal chromosome 14. The proposita's partial duplication for the distal segment of 14q is apprently the result of crossing over within the inverted segment during meiosis. An attempt is made at assessing the risk that a carrier of the described pericentric inversion faces of having an abnormal child. The estimate of the risk depends on two factors: 1) the probability of a crossover occurring within the inverted segment during meiosis, and 2) the probability of a child with either of the two possible unbalanced recombinant chromosomes being born alive. An explanation is offered as to why some pericentric inversions confer a signifcant risk while others are so benign and occur with such a high frequency that they can be considered normal chromosomal variants, rather than chromosome aberrations.

Abnormalities, Multiple↗
PubMed1980

Distinctions among allelic variants associated with chromosome 3 inversions in Drosophila pseudoobscura and Drosophila persimilis.

Efforts were made to discriminate new genetic variants among electrophoretic alleles that are associated with chromosome 3 inversions of Drosophila pseudoobscura and D. persimilis. Apparent genetic similarities for electrophoretic alleles between these two species and among the common inversions they carry were reexamined by altering gel concentration and buffer pH. At the amylase locus, the 1.09 electrophoretic allele could be further separated into two allelic classes that differentiated the WT and KL arrangements. Similarly, the 0.84 electrophoretic allele was divided into two allelic classes, one characteristic of the Santa Cruz phylad arrangements, TL and SC, and the other found in strains of the Standard phylad arrangements and CH. Uncommon amylase alleles proved to be different alleles in the two species. No new allelic variants, however, could be found among strains with the amylase 1.00 allele, the commonest allele in the Standard phylad of both species. No major new allelic variation was detected for acid phosphatase-3 and larval protein-10 that revealed any further differentiation among species or inversions. Variation at all three loci in strains of the Bogota population remained genetically similar to variation in strains of mainland D. pseudoobscura.

Amylases↗
PubMed1987

Specific abnormalities of chromosome 14 in patients with acute type of adult T-cell leukemia/lymphoma.

Chromosome analysis was performed on 1 patient with diffuse lymphoma of mixed type by histologic diagnosis and on 7 patients with the acute type of adult T-cell leukemia (ATL). Specific abnormalities in chromosome 14 at break band q11 with the assigned locus of the alpha-chain gene of the T-cell antigen receptor were identified in 6 of 8 patients. Inv(14) (q11q32) was found in 2 patients and translocation of chromosome 14 at break band q11 was observed in 4. Donor chromosomes involved in translocation of the 14q11 varied, i.e., chromosomes 3, 7 or X, with the exception of one patient whose donor chromosome origin could not be determined. The breakpoint in chromosome 3 was in band p25, a region reported to include the locus of the c-raf-I oncogene. In chromosome 7, it was in band p11, a region reported to include the locus of the c-erb-B oncogene, and in the sex chromosome X, it was in band q11. One patient also had a chromosome 14 aberration at break band q32. Of the 2 remaining patients, one had lost chromosome 14 and the other had an isochromosome 14q. Our observation and other reported findings suggest that the rearrangement of chromosome 14 at break band q11 is specific for lymphoma-type or acute-type ATL patients, and aberrations of proto-oncogene expression or the coding sequence by recombination involving a T-cell antigen receptor gene due to chromosome inversion or chromosome translocation may play an important role in T-cell neoplasia including ATL.

Adult↗
PubMed1998

Rearrangements of RET and NTRK1 tyrosine kinase receptors in papillary thyroid carcinomas.

A combined cytogenetic and molecular analysis of thyroid tumours has indicated that these neoplasms might represent a significant model for analysing human epithelial cell multi-step cancerogenesis. Thyroid tumours comprise a broad spectrum of lesions with different phenotypes and variable biological and clinical behaviour. Molecular analysis has detected specific genetic alterations in these different tumour types. In particular, the well-differentiated carcinomas of the papillary type are characterised by the activation of the tyrosine kinase receptors (TKRs) RET and NTRK1 proto-oncogenes. Cytogenetic analysis of these tumours has contributed to defining the chromosomal mechanisms leading to the TKRs' oncogenic activation. The results have shown that, in the majority of the cases, intra-chromosomal inversions of chromosome 10 and of chromosome 1 lead to the formation of RET-derived and NTRK1-derived oncogenes, respectively. Exposure to ionizing radiation is associated with papillary carcinomas, and RET activation has been suggested to be related to this event. All these findings are contributing to the definition of genetic and environmental factors relevant to the pathogenesis of thyroid tumours. Moreover, the molecular characterisation of specific genetic lesions could provide significant information about the association between ionising radiation and RET oncogene activation.

Adolescent↗
PubMed2025

Genomic and phenotypic comparison of Saccharomyces cerevisiae and Saccharomyces boulardii.

Saccharomyces boulardii is a widely used probiotic yeast with clinical efficacy against certain gastrointestinal disorders. Although genomically related to S. cerevisiae, the extent to which S. boulardii harbors distinct probiotic-relevant traits remains incompletely defined, particularly across commercially distributed strains. Here, we performed comparative genomic, physiological, and functional analyses of five S. boulardii strains and three S. cerevisiae strains, including baker's and laboratory variants. S. boulardii strains shared conserved genetic features and exhibited a conserved chromosomal inversion on chromosome XVI, lower copy numbers of CAZyme genes, and lineage-specific amino acid substitutions in central and tryptophan catabolism pathways-potentially underlying elevated production of immunomodulatory metabolites. S. boulardii strains also exhibited enhanced acid tolerance, elevated acetate and succinate production, and robust immunomodulatory activity, including suppression of IL-8 secretion and NF-κB, and consistent activation of the aryl hydrocarbon receptor (AhR) compared to S. cerevisiae. In contrast, S. cerevisiae strains displayed greater bile salt tolerance and faster growth under aerobic and anaerobic conditions at both 30°C and 37°C but lacked consistent anti-inflammatory effects or AhR agonism. Metabolic and immunological phenotypes varied with oxygen availability and strain background. Despite high genomic similarity, S. cerevisiae and S. boulardii exhibit distinct functional capacities relevant to probiotic efficacy. These findings help define speciesand strain-specific features that inform the development and regulatory evaluation of next-generation yeast probiotics.

AhR activation↗
PubMed2001

[Inversion polymorphism and the divergence of two cryptic forms of Anopheles messeae (Diptera, Culicidae) at the level of genomic DNA repeats].

Genomic DNA of samples from several populations of malaria mosquito Anopheles messeae belonging to the macullipennis Paleoarctic complex was examined using digestion with ten restriction enzymes and electrophoresis in polyacrylamide gel. The patterns of DNA repeat fraction in the EcoRII hydrolysate in two cryptic forms of An. messeae characterized by common inversion polymorphism were shown to be different. The genomic differences in mixed sympatric groups and those between geographically remote populations of the different forms were identical. No interindividual, intrafamilial, inter- and intrapopulation variation was revealed in either form. The electrophoregrams of individuals belonging to the same the B form but having different combinations of inversion chromosomal variants in the karyotypes were identical. Analysis of taxonprints in the forms showed that individuals with the same karyotype may belong to different forms. These results coupled with evidence on the ecological features of and assortative mating in An. messeae populations demonstrated that the examined forms are not conspecific. Our results indicate that taxonprint analysis is the most reliable and precise test for the presence of conspecific forms in a large sympatric zone.

Animals↗
PubMed1995

Recombination in single and double heterozygotes for two partially overlapping inversions in chromosome 1 of the house mouse.

Recombination frequency, chiasmata and chromatid interference were studied by means of analysis of meiotic configurations in diakinesis and metaphase II in single and double heterozygotes for the partially overlapping inversions In(1)1Rk and In(1)12Rk in chromosome 1 of the house mouse. Recombination frequency in the inverted regions was decreased in single heterozygotes and increased in the double heterozygotes as compared to normal homozygotes. Chiasmata in the inverted regions in the double heterozygotes did not interfere with each other. A significant excess of 4-chromatid double exchanges in the inverted regions was detected in the double heterozygotes.

Animals↗
PubMed1992

Pericentric inversion of chromosome 9 in prenatal diagnosis and infertility.

In order to evaluate the relation between pericentric inversion of chromosome 9 (inv(9)) and clinical problems, the characteristics of inv(9) were investigated on the basis of chromosomal analyses of fetuses and infertile couples. The incidence of such inversion in fetuses with parents having an offspring who suffered from various clinical problems was significantly higher than the basic incidence obtained in fetuses karyotyped by reason of advanced maternal age. In the chromosomal examination of the parents whose fetuses were diagnosed as inv(9), it was revealed that either parent might be the carrier. Furthermore, in the inv(9) carrying fetuses, the number of females was significantly greater than that of males. Analysis of infertile couples revealed that the incidence of such inversion in males was significantly higher than the basic incidence mentioned above. Moreover, infertile couples with an inv(9) carrier showed a significantly higher incidence of intrauterine fetal death, compared with infertile couples with a translocation carrier or those in which the etiology was unknown. These results indicate that inv(9) may often cause clinical problems in offspring of the carrier and infertility with unknown mechanisms related to sex.

Chromosome Aberrations↗
PubMed2004

Inversion of chromosome 12 and lineage promiscuity in hematologic malignancies.

Rearrangements of the short arm of chromosome 12 are among the most common aberrations found in hematologic malignancies, including myelodysplastic syndromes, acute myelocytic leukemias, acute lymphoblastic leukemias, and non-Hodgkin lymphomas. We report on a group of 46 patients with a variety of myelocytic and lymphoid malignancies, all with an inversion of chromosome 12. Both pericentric and paracentric inversions occurred. The identified hotspots for breakage were p13 and q24. These correspond to gene-rich areas of known chromosome instability. The inv(12) is difficult to detect and may be misinterpreted as a partial deletion by routine cytogenetics. Fluorescence in situ hybridization studies revised the G-banding interpretations of a deleted 12p in some cases to an inversion. The inv(12) may occur as the sole abnormality in both myelocytic and lymphoid malignancies, suggesting lineage promiscuity as seen with MLL and ETV6 gene disruptions. The majority of patients with the inv(12) had complex karyotypic changes that predicted a poor prognosis. Of the 24 patients with known clinical follow-up, many were refractory to chemotherapy and overall survival was short.

Adolescent↗
PubMedDate not supplied

[Hereditary paracentric inversion of chromosome 3].

A complete uveal dysgenesis with absence of the anterior chamber and fixed mydriatic pupil was observed in the left eye of a boy. His younger sister and his father, and also the right eye of the patient showed similar but more discrete anterior uveal alterations. All three persons present some facial peculiarities. They are also heterozygous for a paracentric inversion of the short arm of chromosome 3. Four other cases with this chromosomal aberration were found in the literature, none with eye anomalies.

Chromosome Aberrations↗
PubMed1980

Activity variants of acid phosphatase-3 among chromosome 3 inversions of Drosophila pseudoobscura.

Allozymes of the Ap-3 locus in Drosophila pseudoobscura show very strong associations with chromosome 3 inversions. The 0.98 electrophoretic allele is associated with The TL, SC, CH and PP gene arrangements, while the 1.00 electrophoretic allele is characteristic of the AR and ST gene arrangements. Variation in relative 0.98 and 1.00 AP-3 allozyme activities of chromosome 3 isogenic strains was examined on acrylamide gels in F1 heterozygotes obtained by crossing these strains individually to a reference strain with a slower 0.87 mobility allozyme. F2 analyses demonstrated that the activity variants co-segregate with the Ap-3 locus. Both 0.98 and 1.00 allelic classes are polymorphic for AP-3 activities. In contrast to the virtual monomorphism for an electrophoretic allele, each inversion is polymorphic for AP-3 activities. These results reveal substantially more genetic differentiation among gene arrangements than is evident from electrophoretic allele comparisons. Strains having the PP arrangement are distinct from TL strains in their AP-3 activity expression, and ST strains have a wider range of variation than AR strains. In contrast, no geographical differentiation is evident for strains from the Bogota population of D. pseudoobscura.

Acid Phosphatase↗
PubMed1995

Pericentric inversions of chromosome 4: report of a new family and review of the literature.

A family was cytogenetically studied because of the birth of a male child with a multiple congenital anomaly pattern, in whom a dup (4q) recombinant was found. His phenotypically normal mother's karyotype showed an apparently balanced pericentric inversion in a chromosome 4. So as to analyze the occurrence of recombinants, the cytogenetic data from this family are compared with those of the 18 previously reported familial cases of pericentric inversions (PIs) of chromosome 4. The congenital anomalies observed in the child strongly suggest Wolf-Hirschhorn syndrome but some of his clinical features seem to be pathogenetically related to the presence of lymphedema during the intrauterine period. In the multiple congenital anomaly pattern observed in this patient, the lymphedema could be the consequence of the large 4q duplication. The review of chromosome 4 PIs with 4q duplication suggests that the q3 region should be examined when edema is detected prenatally.

Adult↗
PubMed1986

Complex translocation t(3;9;22) and paracentric inversion of chromosome 3 in blastic crisis of chronic myeloid leukemia.

We report a complex rearrangement observed in both the short and long arms of chromosome #3 in a patient with Ph-positive chronic myeloid leukemia in blastic crisis and without thrombopoietic abnormalities. The rearrangement consisted of a complex translocation, t(3;9;22)(p21;q34;q11), and a paracentric inversion of the long arm of the same chromosome #3 involved in the translocation. Involvement of chromosome #3 in complex translocations in chronic myeloid leukemia and the relationship between 3q anomalies and thrombopoietic diseases are discussed.

Chromosome Inversion↗
PubMed2006

Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility.

No phenotypic effect is observed in most inversion heterozygotes. However, reproductive risks may occur in the form of infertility, spontaneous abortions or chromosomally unbalanced children as a consequence of meiotic recombination between inverted and non-inverted chromosomes. An odd number of crossovers within the inverted segment results in gametes bearing recombinant chromosomes with a duplication of the region outside of the inversion segment of one arm and a deletion of the terminal segment of the other arm [dup(p)/del(q) and del(p)/dup(q)]. Using fluorescence in-situ hybridization (FISH), the chromosome segregation of a pericentric inversion of chromosome 1 was studied in spermatozoa of a inv(1)(p22q42) heterozygous carrier. Three-colour FISH was performed on sperm samples using a probe mixture consisting of chromosome 1p telomere-specific probe, chromosome 1q telomere-specific probe and chromosome 18 centromere-specific alpha satellite DNA probe. The frequency of the non-recombinant product was 80.1%. The frequencies of the two types of recombinants carrying a duplication of the short arm and a deletion of the long arm, and vice versa, were respectively 7.6 and 7.2%, and these frequencies were not statistically significant from the expected ratio of 1:1. Sperm-FISH allows the further understanding of segregation patterns and their effect on reproductive failure and allows an accurate genetic counselling.

Adult↗
PubMed2004

Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome.

Ambras syndrome (AMS) is a unique form of universal congenital hypertrichosis. In patients with this syndrome, the whole body is covered with fine long hair, except for areas where normally no hair grows. There is accompanying facial dysmorphism and teeth abnormalities, including retarded first and second dentition and absence of teeth. In 1993, Baumeister et al. reported an isolated case of Ambras syndrome in association with a pericentric inversion of chromosome 8. Subsequently, another patient with congenital hypertrichosis and rearrangement of chromosome 8 was reported by Balducci et al. (1998). Both of these patients have a breakpoint in 8q22 in common suggesting that this region of chromosome 8 contains a gene involved in regulation of hair growth. In order to precisely determine the nature of the rearrangement in the case of Ambras syndrome, we have used fluorescent in situ hybridization (FISH) analysis. We have cloned the inversion breakpoints in this patient and generated a detailed physical map of the inversion breakpoint interval. Analysis of the transcripts that map in the vicinity of the breakpoints revealed that the inversion does not disrupt a gene, and suggests that the phenotype is caused by a position effect.

Abnormalities, Multiple↗