Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes

1994 ◽  
Vol 49 (4) ◽  
pp. 410-413 ◽  
Author(s):  
A. M. Estop ◽  
V. Bansal ◽  
A. Lin ◽  
F. Levinson ◽  
S. M. Karlin ◽  
...  
Genetics ◽  
1983 ◽  
Vol 103 (3) ◽  
pp. 465-482
Author(s):  
Hampton L Carson

ABSTRACT Of 103 picture-winged Drosophila species endemic to the high Hawaiian islands, all but three are endemic to single islands or island complexes. They are presumed to have evolved in situ on each island. The banding pattern sequences of the five major polytene chromosomes of these species have been mapped to a single set of Standard sequences. Sequential variation among these chromosomes is due to 213 paracentric inversions. An atlas of their break points is provided. Geographical, morphological and behavioral data may be used to supplement the cytological information in tracing ancestry. Starting at the newer end of the archipelago, the 26 species of the Island of Hawaii (less than 700,000 years old) are inferred to have been derived from 19 founders, 15 from the Maui complex, three from Oahu and one from Kauai. The existence of 40 Maui complex species is explicable as resulting from 12 founders, ten from Oahu and two from Kauai. The 29 Oahu species can be explained by 12 founder events, five from Kauai and seven from Maui complex (summary in Figure 5). Although the ancestry of two Kauai species can be traced to newer islands, the ten remaining ones on this island (age about 5.6 million years) are apparently ancient elements in the fauna, relating ultimately to Palearctic continental sources.


2019 ◽  
Vol 157 (4) ◽  
pp. 239-248 ◽  
Author(s):  
Amanda T. Borges ◽  
Marcelo B. Cioffi ◽  
Luiz A.C. Bertollo ◽  
Rodrigo X. Soares ◽  
Gideão W.W.F. Costa ◽  
...  

Centropomus is the sole genus of the Centropomidae family (Teleostei), comprising 12 species widely distributed throughout the Western Atlantic and Eastern Pacific, with 6 of them occurring in the Western Atlantic in extensive sympatry. Their life history and phylogenetic relationships are well characterized; however, aspects of chromosomal evolution are still unknown. Here, cytogenetic analyses of 2 Centropomus species of great economic value (C. undecimalis and C. mexicanus) were performed using conventional (Giemsa, Ag-NOR, and fluorochrome staining, C- and replication banding) and molecular (chromosomal mapping of 18S and 5S rDNA, H2A-H2B and H3 hisDNA, and (TTAGGG)n repeats) approaches. The karyotypes of both species were composed of 48 solely acrocentric chromosomes (2n = 48; FN = 48), but the single ribosomal site was located in varying positions in the long arms of the second largest chromosome pair. Replication bands were generally similar, although conspicuous differences were observed in some chromosome regions. In both species, the histone H3 genes were located on 3 apparently homeologous chromosome pairs, but the exact position of these clusters differed slightly. Interspecific hisDNA and rDNA site displacements can indicate the occurrence of multiple paracentric inversions during the evolutionary diversification of the Centropomus genomes. Although the karyotypes remained similar in both species, our data demonstrate an unsuspected microstructural reorganization between them, driven most likely by a series of paracentric inversions.


2017 ◽  
Vol 151 (4) ◽  
pp. 208-215 ◽  
Author(s):  
Tiago M. Degrandi ◽  
Analía del Valle Garnero ◽  
Patricia C.M. O'Brien ◽  
Malcolm A. Ferguson-Smith ◽  
Rafael Kretschmer ◽  
...  

Trogons are forest birds with a wide distribution, being found in Africa, Asia, and America, and are included in the order Trogoniformes, family Trogonidae. Phylogenetic studies using molecular data have not been able to determine the phylogenetic relationship among the different genera of trogons. So far, no cytogenetic data for these birds exist. Hence, the aim of this study was to characterize the karyotype of Trogon surrucura surrucura by means of classical and molecular cytogenetics. We found a diploid chromosome number of 2n = 82, similar to most birds, with several derived features compared to chicken and the putative ancestral avian karyotype. T. s. surrucura showed 3 pairs of microchromosomes bearing 18S rDNA clusters. The Z and W sex chromosomes were of similar size but could readily be identified by morphological differences. Using chromosome painting with whole chromosome probes from Gallus gallus and Leucopternis albicollis, we found that the chromosomes homologous to chicken chromosomes 2 and 5 correspond to 2 different pairs in T. s. surrucura and L. albicollis, due to the occurrence of centric fissions. Paracentric inversions were detected in the segment homologous to chicken chromosome 1q, and we confirmed the recurrence of breakpoints when our results were compared to other species of birds already analyzed by FISH or by in silico genome assembly.


1982 ◽  
Vol 24 (2) ◽  
pp. 177-188 ◽  
Author(s):  
P. E. Kaiser ◽  
J. A. Seawright ◽  
M. Q. Benedict ◽  
S. Narang ◽  
S. G. Suguna

Reciprocal translocations and inversions were induced in Anopheles albimanus Wiedemann by irradiation of males with X rays. A total of 1669 sperm were assayed, and 175 new aberrations were identified as follows: 102 reciprocal translocations (67 autosomal and 35 sex-linked), 45 pericentric inversions, and 28 paracentric inversions. Eleven of the translocations were nearly whole-arm interchanges, and these were selected for the construction of "capture systems" for compound chromosomes. Two double-heterozygous translocation strains and four homozygous translocation strains were established. Anopheles albimanus females were irradiated, and a pseudolinkage scheme involving mutant markers was employed to identify reciprocal translocations. The irradiation of females was very inefficient: only one translocation was recovered from 1080 ova tested.


Blood ◽  
1996 ◽  
Vol 88 (6) ◽  
pp. 2259-2266 ◽  
Author(s):  
J Fairman ◽  
RY Wang ◽  
H Liang ◽  
L Zhao ◽  
D Saltman ◽  
...  

Acquired partial and complete deletions of chromosome 5 (5q-, -5) are common cytogenetic anomalies associated with myelodysplasia (MDS) and acute myeloid leukemia (AML). A critical region of consistent loss at 5q31.1 (in > 90% of cases) has led us and others to postulate the presence of a key negative regulator(s) of leukemogenesis. Although the interstitial deletion limits vary among patients, del(5) (q13q33) and del(5)(q13q35) constitute major subsets. Furthermore, it is not rare to encounter deletions, translocations, or paracentric inversions involving 5q11 to 5q13, which indicates inactivation or disruption of important gene(s) at that locus. In this report, we have localized a novel locus at 5q13.1 to a 2.0-Mb interval between the anonymous markers D5S672 and GATA-P1804. This locus resided within the region of loss in 12 of 27 patients with anomalies of chromosome 5; one of these cases had apparent retention of both alleles of all the telomeric loci. Fluorescence in situ hybridization (FISH) studies demonstrate that the AML cell line ML3 is disrupted at 5q13.1 by a translocation involving chromosome 3, with apparent retention of the entire chromosome 5 sequence. Our results suggest that this novel proximal locus encodes a critical gene that may be deleted or disrupted in a subset of MDS/AML patients with chromosome 5 anomalies.


1981 ◽  
Vol 1 (1) ◽  
pp. 35-42 ◽  
Author(s):  
Hanne Poulsen ◽  
Margareta Mikkelsen ◽  
Gösta Holmgren

CYTOLOGIA ◽  
2006 ◽  
Vol 71 (4) ◽  
pp. 325-330
Author(s):  
Hernán Cequea ◽  
Damelis Díaz de Cequea ◽  
José Imery

Genome ◽  
1999 ◽  
Vol 42 (1) ◽  
pp. 80-86 ◽  
Author(s):  
Chaliow Kuvangkadilok ◽  
Suwannee Phayuhasena ◽  
Visut Baimai

A standard photographic map of Simulium feuerborni (Diptera: Simuliidae) was constructed from larval salivary gland polytene chromosomes and is described herein. Analysis of polytene chromosomes was made from wild larvae collected from the four populations at Doi Inthanon National Park, Chiang Mai Province, northern Thailand. Simulium feuerborni has three pairs of chromosomes (2n = 6) which are arranged from the longest to the shortest. Chromosome I is metacentric while chromosomes II and III are submetacentric. A total of six simple paracentric inversions have been detected in these natural populations of S. feuerborni. These inversions (IS-1, IL-1, IIL-1, IIL-2, IIIS-1, IIIL-1) occurred in all chromosome arms except for the arm IIS. Significant deviation from Hardy-Weinberg equilibrium has been observed in inversion IIIL-1 at Hui Sai Luaeng suggesting the existence of two gene pools in this population. There is no indication of sex linkage associated with an inversion sequence in these populations. Thus, the X and Y chromosomes of S. feuerborni could not be recognized in this study.Key words: Simulium, polytene chromosome map, inversion polymorphisms


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