Chromosomal Rearrangements in Rock Wallabies, Petrogale (Marsupialia, Macropodidae) .4. G-Banding Analysis of the Petrogale-Lateralis Complex

1991 ◽  
Vol 39 (6) ◽  
pp. 621 ◽  
Author(s):  
MDB Eldridge ◽  
RL Close ◽  
PG Johnston
Keyword(s):  
X Chromosome ◽  
Acrocentric Chromosome ◽  
Chromosomal Rearrangements ◽  
Chromosome 3 ◽  
Morphological Divergence ◽  
Cultured Fibroblasts ◽  
Banding Analysis

The karyotypes of Petrogale lateralis lateralis, P. l. purpureicollis and P. l 'Macdonnell Ranges' were examined with G-banding from cultured fibroblasts. P. l. lateralis (2n = 22) was found to retain the plesiomorphic karyotype, whereas P. l. purpureicollis (2n = 22) and P. l. 'Macdonnell Ranges' (2n = 22) were found to share an apomorphic karyotype characterised by an acrocentric chromosome 3 (3a) and an acrocentric X-chromosome (Xp). Both the 3a and Xp can be derived from their respective P. l. lateralis homologues by centric transpositions. Although P. l. purpureicollis and P. l. 'Macdonnell Ranges' appear very similar chromosomally, they are readily distinguishable genically and morphologically, P. l. 'Macdonnell Ranges' being more similar to P. l. lateralis. Thus, in these taxa, genic and morphological divergence have not been associated with significant changes in karyotype.

Chromosomal rearrangements in rock wallabies, Petrogale (Marsupialia: Macropodidae). III. G-banding analysis of Petrogale inornata and P. penicillata

Genome ◽  
1990 ◽  
Vol 33 (6) ◽  
pp. 798-802 ◽  
Author(s):  
M. D. B. Eldridge ◽  
R. L. Close ◽  
P. G. Johnston
Keyword(s):  
Acrocentric Chromosome ◽  
Chromosomal Rearrangements ◽  
Paracentric Inversion ◽  
Chromosome 3 ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Cultured Fibroblasts ◽  
Submetacentric Chromosome ◽  
Ancestral Chromosome ◽  
Banding Analysis

The karyotypes of Petrogale inornata and the two currently recognised races of Petrogale penicillata were examined using G-banding from cultured fibroblasts. Petrogale inornata (2n = 22) was found to retain plesiomorphic chromosomes 3 and 4 but possessed an apomorphic inverted chromosome 5 (5i). This 5i appears identical with the 5i found in two other Queensland taxa, Petrogale assimilis and Petrogale godmani, and can be derived from the ancestral chromosome 5 by an extensive paracentric inversion or a centromeric transposition. Petrogale penicillata penicillata (2n = 22) and Petrogale penicillata herberti (2n = 22) both possess the synapomorphic acrocentric chromosome 3, which appears to differ from the plesiomorphic 3 by a small centromeric transposition. Petrogale p. penicillata was also found to be characterised by an apomorphic acrocentric chromosome 4, while P. p. herberti was characterised by an autapomorphic submetacentric chromosome 4. Both apomorphic chromosomes 4 can be related to the plesiomorphic chromosome 4 by centromeric transpositions. Thus although P. inornata is chromosomally distinct it is more closely related to other north Queensland taxa than it is to either P. p. penicillata or P. p. herberti.Key words: chromosomal rearrangements, G-banding, Marsupialia, Petrogale, Macropodidae.

Chromosomal rearrangements in rock wallabies, Petrogale (Marsupialia: Macropodidae). IX. Further G-banding studies of the Petrogale lateralis complex: P. lateralis pearsoni, the West Kimberley race, and a population heterozygous for a centric fusion

Genome ◽  
1997 ◽  
Vol 40 (1) ◽  
pp. 84-90 ◽  
Author(s):  
M. D. B. Eldridge ◽  
D. J. Pearson
Keyword(s):  
Western Australia ◽  
Additional Data ◽  
De Novo ◽  
Acrocentric Chromosome ◽  
Chromosomal Rearrangements ◽  
Centric Fusion ◽  
Chromosome 3 ◽  
The West ◽  
Cultured Fibroblasts ◽  
Karyotypic Analysis

G-banded metaphase preparations from cultured fibroblasts were used to examine the karyotypes of Petrogale lateralis pearsoni and the West Kimberley (WK) race of P. lateralis. Petrogale lateralis pearsoni was found to retain the ancestral 2n = 22 Petrogale karyotype, while the WK race (2n = 20) was found to be characterized by a 9–10 centric fusion. This taxon had been reported to have an 8–10 fusion. Karyotypic analysis was also used to identify Petrogale populations in the Erskine Range, Western Australia (W.A.) as the WK race and in the Walter James Range, W.A. as the MacDonnell Ranges (MDR) race of P. lateralis. These findings represent significant range extensions for both taxa. A third P. lateralis population, from the Townsend Ridges, W.A., could not be definitively identified to subspecies or race and appears intermediate between the WK and MDR races. Four animals were examined from this population and all possessed an identical 2n = 21 karyotype characterized by homozygosity for a derived acrocentric chromosome 3 (3a) and heterozygosity for a 9–10 fusion. Rearrangement 3a is typical of the MDR race, while the 9–10 fusion is characteristic of the WK race. The polymorphic Townsend Ridges population could result from the de novo creation of a 9–10 fusion (similar in morphology to the 9–10 fusion of the WK race) or it may represent evidence of hybridization between the MDR race and either the WK race or a currently unknown taxon. Additional data will be required to distinguish between these hypotheses.Key words: rock wallabies, Petrogale, chromosome rearrangements, G-banding.

scholarly journals Autism Spectrum Disorder in a Girl with aDe NovoX;19 Balanced Translocation

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Marcelo Razera Baruffi ◽  
Deise Helena de Souza ◽  
Rosana Aparecida Bicudo da Silva ◽  
Ester Silveira Ramos ◽  
Danilo Moretti-Ferreira
Keyword(s):  
X Chromosome ◽  
De Novo ◽  
Recurrent Miscarriage ◽  
Chromosomal Rearrangements ◽  
Position Effect ◽  
Autism Spectrum ◽  
Balanced Translocation ◽  
Replication Banding ◽  
Conventional Cytogenetic Analysis ◽  
Gonadal Dysfunction

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with ade novoX;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed ade novobalanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated withde novobalanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

Chromosome polymorphism in natural populations of Anopheles quadrimaculatus Say species A and B

Genome ◽  
1988 ◽  
Vol 30 (2) ◽  
pp. 138-146 ◽  
Author(s):  
P. E. Kaiser ◽  
J. A. Seawright ◽  
B. K. Birky
Keyword(s):  
X Chromosome ◽  
Southeastern United States ◽  
Polytene Chromosomes ◽  
Natural Populations ◽  
Chromosome 3 ◽  
Chromosome Polymorphism ◽  
Chromosome 2 ◽  
Anopheles Quadrimaculatus ◽  
The Right ◽  
Maculipennis Complex

Ovarian polytene chromosomes from eight populations of Anopheles quadrimaculatus in the southeastern United States were observed for chromosomal polymorphisms. Two sibling species, species A and B, each with intraspecific inversions, were distinguished. Species A correlates with the previously published standard maps for salivary gland and ovarian nurse-cell polytene chromosomes. Species A was found at all eight collection sites, and five of these populations also contained species B. Three inversions on the right arm of chromosome 3 were observed in species A. Species B contained a fixed inversion on the X chromosome, one fixed and one floating inversion on the left arm of chromosome 2, and one fixed and one floating inversion on the right arm of chromosome 3. The fixed inversion on the X chromosome makes this the best diagnostic chromosome for distinguishing species A and B. An unusual dimorphism in the left arm of chromosome 3, found in both species A and B, contained two inversions. The heterokaryotypes, as well as two distinct homokaryotypes, were seen in all of the field populations. Intraspecific clinal variations in the frequencies of the species A inversions were noted. The Florida populations were practically devoid of inversions, the Georgia and Alabama populations contained some inversions, and the Arkansas population was mostly homozygous for two of the inversions. The phylogenetic relationships of species A and B to the Maculipennis complex (Nearctic) are discussed.Key words: Anopheles, inversion, populations, chromosome polymorphism, phylogenetics.

scholarly journals Studies on Metatherian Sex Chromosomes. IX. Sex Chromosomes of the Greater Glider (Marsupialia : Petauridae)

1979 ◽  
Vol 32 (3) ◽  
pp. 375 ◽  
Author(s):  
JD Murray ◽  
GM McKay ◽  
GB Sharman
Keyword(s):  
X Chromosome ◽  
Sex Chromosomes ◽  
National Park ◽  
Secondary Constriction ◽  
X Chromosomes ◽  
Cultured Fibroblasts ◽  
Multiple Sex Chromosomes ◽  
Eastern Australia ◽  
Xy Bivalent ◽  
Secondary Constrictions

The greater glider, currently but incorrectly known as Schoinobates vo/ans, is widely distributed in forested regions in eastern Australia. All animals studied from six different localities had 20 autosomes but there were four chromosomally distinct populations. At Royal National Park, N.S.W., all female greater gliders studied had 22 chromosomes including two large submetacentric X chromosomes with subterminal secondary constrictions in their longer arms. This form of X chromosome occurred also at Bondo State Forest, Myall Lakes and Coff's Harbour, N.S.W., and at Eidsvold, Qld. At Coomooboolaroo, Qld, the X chromosome was also a large submetacentric but a secondary constriction occurred in the shorter arm. Two chromosomally distinct types apparently occur in Royal National Park, one with XY m,ales as in all other populations, and one with XY1Y2 males. Y or Yb but not Y 2, chromosomes were eliminated from the bone marrow in all populations but were present in spermatogonia, primary sperrnatocytes and cultured fibroblasts. Animals from Bondo State Forest had three or more acrocentric or metacentric supernumerary chromosomes. [Other keywords: C-banding, eytotaxonomy, multiple sex chromosomes, XY bivalent.]

scholarly journals Chromosomal basis of dosage compensation in Drosophila: I. Cellular autonomy of hyperactivity of the male X-chromosome in salivary glands and sex differentiation

1969 ◽  
Vol 14 (2) ◽  
pp. 137-150 ◽  
Author(s):  
S. C. Lakhotia ◽  
A. S. Mukherjee
Keyword(s):  
Drosophila Melanogaster ◽  
Salivary Glands ◽  
X Chromosome ◽  
Metabolic Activity ◽  
Dosage Compensation ◽  
Rna Synthesis ◽  
Sex Differentiation ◽  
Chromosome 3 ◽  
Normal Male ◽  
Developmental Physiology

Morphology and the rate of RNA synthesis of the X-chromosome in XX/XO mosaic larval salivary glands of Drosophila melanogaster have been examined. For this purpose the unstable ring-X was utilized to produce XX and XO nuclei in the same pair of glands. The width of the X-chromosome and the left arm of the 3rd chromosome (3L) of larval salivary glands was measured and the rate of RNA synthesis by them was studied upon the use of [3H]uridine autoradiography in such XX (female) and XO (male) nuclei developing in a female background (i.e. otherwise genotypically XX). In such mosaic glands the width of the single X-chromosome of male nuclei is nearly as great as that of the paired two X's of female nuclei, as is also the case in normal male (X Y) and female (XX). The single X of male nuclei synthesizes RNA at a rate equal to that of the paired two X's of female nuclei and nearly twice that of an unpaired X of XX nuclei. Neither the developmental physiology of the sex nor the proportion of XO nuclei in a pair of mosaic salivary glands of an XX larva has any influence on these two characteristics of the male X-chromosome.It is suggested that dosage compensation in Drosophila is achieved chiefly, if not fully, by a hyperactivity of the male X, in contrast to the single X inactivation in female mammals, that this hyperactivity of the male X is expressed visibly in the morphology and metabolic activity of the X-chromosome in the larval salivary glands of the male, and that this hyperactivity and therefore dosage compensation in Drosophila in general is not dependent on sex-differentiation, but is a function of the doses of the X-chromosome itself.

Chromosomal rearrangements in rock wallabies, Petrogale (Marsupialia: Macropodidae). II. G-banding analysis of Petrogale godmani

Genome ◽  
1989 ◽  
Vol 32 (6) ◽  
pp. 935-940 ◽  
Author(s):  
M. D. B. Eldridge ◽  
P. G. Johnston ◽  
R. L. Close ◽  
P. S. Lowry
Keyword(s):  
Chromosomal Rearrangements ◽  
Centric Fusion ◽  
Common Ancestry ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Separate Species ◽  
Submetacentric Chromosome ◽  
Ancestral Chromosome ◽  
Banding Analysis ◽  
Cape York

Chromosomal rearrangements in the two currently recognised races of Petrogale godmani were examined using C- and G-banding. The nominate race P. godmani godmani (2n = 20) was found to possess an inverted chromosome 5 and an acrocentric 6–10 fusion, which can be derived from a 6–10 centric fusion by a centromeric transposition. The Cape York race (2n = 22) was found to retain the ancestral submetacentric chromosome 4 and the ancestral chromosome 5. Thus despite their genie similarity, the two races clearly have major chromosomal differences and should be regarded as separate species. Petrogale g. godmani shares two derived chromosomes with another Queensland taxon, the assimilis race of P. assimilis, indicating recent common ancestry. The Cape York race retains characteristics of an ancestral stock of Petrogale and its genic similarity with P. g. godmani could therefore be the result of extensive introgression.Key words: chromosomal rearrangements, G-banding, Marsupialia, Petrogale.

Modification of the Drosophila heterochromatic mutation brownDominant by linkage alterations.

Genetics ◽  
1994 ◽  
Vol 136 (2) ◽  
pp. 559-571 ◽  
Author(s):  
P B Talbert ◽  
C D LeCiel ◽  
S Henikoff
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Genetic Locus ◽  
Special Property ◽  
Chromosome Rearrangements ◽  
Chromosome 3 ◽  
Heterochromatin Formation ◽  
Chromosome Arm ◽  
Translocation Breakpoints

Abstract The variegating mutation brownDominant (bwD) of Drosophila melanogaster is associated with an insertion of heterochromatin into chromosome arm 2R at 59E, the site of the bw gene. Mutagenesis produced 150 dominant suppressors of bwD variegation. These fall into two classes: unlinked suppressors, which also suppress other variegating mutations; and linked chromosome rearrangements, which suppress only bwD. Some rearrangements are broken at 59E, and so might directly interfere with variegation caused by the heterochromatic insertion at that site. However, most rearrangements are translocations broken proximal to bw within the 52D-57D region of 2R. Translocation breakpoints on the X chromosome are scattered throughout the X euchromatin, while those on chromosome 3 are confined to the tips. This suggests that a special property of the X chromosome suppresses bwD variegation, as does a distal autosomal location. Conversely, two enhancers of bwD are caused by translocations from the same part of 2R to proximal heterochromatin, bringing the bwD heterochromatic insertion close to the chromocenter with which it strongly associates. These results support the notion that heterochromatin formation at a genetic locus depends on its location within the nucleus.

A clinical case of severe Duchenne muscular dystrophy caused by a nonsense mutation in the DMD gene in a girl

2021 ◽  
Vol 2 (4) ◽  
pp. 227-232
Author(s):  
Tatyana V. Podkletnova ◽  
Olga B. Kondakova ◽  
Eugeniya V. Uvakina ◽  
Dariya A. Fisenko ◽  
Anastasiya A. Lyalina ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
X Chromosome ◽  
Clinical Symptoms ◽  
Chromosomal Rearrangements ◽  
Clinical Manifestations ◽  
Severe Form ◽  
Rapid Progression ◽  
Compound Heterozygous ◽  
Dmd Gene

Duchenne muscular dystrophy (DMD) is a hereditary progressive muscular dystrophy, mainly manifested in boys, is characterized by the onset at an early age, gradual symmetrical atrophy of the striated musculature of the limbs, trunk, as well as damage to the heart muscle. As a rule, girls and women inheriting a pathological mutation are classified only as its carriers and do not have clinical manifestations of the disease. Rare cases when women or girls show clinical manifestations of DMD may be due to chromosomal rearrangements involving the region of the short arm of the X chromosome (Xp21.2), deletions of this region, complete loss of the X chromosome (Shereshevsky-Turner syndrome), homogenous X chromosome dysomnia, compound heterozygous state for two pathogenic mutations in the DMD gene, nonequilibrium inactivation of the X chromosome. When female mutation carriers have DMD clinical symptoms, they usually manifest much milder than boys and young males. Descriptions of patients with the severe course and rapid progression of the disease, comparable in the rate of progression with boys, are rare. In this article, the authors share their experience of observing a girl patient who suffered from a severe form of DMD.

TURNER'S SYNDROME WITH SECONDARY AMENORRHOEA AND SEX CHROMOSOME MOSAICISM

1964 ◽  
Vol 46 (3) ◽  
pp. 341-351 ◽  
Author(s):  
D. R. London ◽  
N. H. Kemp ◽  
R. Ellis ◽  
Ursula Mittwoch
Keyword(s):  
Bone Marrow ◽  
X Chromosome ◽  
Sex Chromosome ◽  
Acrocentric Chromosome ◽  
Ring Chromosome ◽  
Cell Types ◽  
Abdominal Skin ◽  
Chromosome Mosaicism ◽  
Different Cell Types ◽  
Bone Marrow Blood

ABSTRACT A female patient is described aged 28 years, height 145 cm, with infantile genitalia, infantile uterus and atrophic ovaries and in whom menstruation had occurred over a period of five years. Chromosome studies from bone marrow, blood, skin (arm and abdominal wall) and both ovaries revealed sex chromosome mosaicism and a structurally abnormal X chromosome. Three cell lines were observed. The prevalent cell line which was present in cultures from all tissues had 45 chromosomes and an XO karyotype; cultures from all tissues except the abdominal skin contained cells with 46 chromosomes, with an X/deleted X karyotype (the latter in the form of a large acrocentric chromosome); lastly a small dot-like (ring?) chromosome was present as the 46th chromosome in some cells derived from the abdominal skin and right ovary. The frequency of the different cell types in cultures from the ovaries differed considerably from those of other tissues.

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