Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

1997 ◽  
Vol 16 (1) ◽  
pp. 96-99 ◽  
Author(s):  
Kersten Small ◽  
Jane Iber ◽  
Stephen T. Warren
Keyword(s):  
X Chromosome ◽  
Inverted Repeats ◽  
Chromosome Inversion

Xp21 Muscular dystrophy due to X chromosome inversion

Neurology ◽  
1997 ◽  
Vol 49 (1) ◽  
pp. 260-260 ◽  
Author(s):  
P. S. Baxter ◽  
E. L. Maltby ◽  
O. Quarrell
Keyword(s):  
Muscular Dystrophy ◽  
X Chromosome ◽  
Chromosome Inversion

Position-effect variegation in Drosophila melanogaster X chromosome inversion with a breakpoint in a satellite block and its suppression in a secondary rearrangement

Chromosoma ◽  
1998 ◽  
Vol 106 (8) ◽  
pp. 520-525 ◽  
Author(s):  
Eugene V. Tolchkov ◽  
Irina A. Kramerova ◽  
Sergei A. Lavrov ◽  
Vanya I. Rasheva ◽  
Silvia Bonaccorsi ◽  
...  
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Position Effect ◽  
Position Effect Variegation ◽  
Chromosome Inversion ◽  
Effect Variegation ◽  
Secondary Rearrangement

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: A second FG locus [FGS2]?

2000 ◽  
Vol 95 (2) ◽  
pp. 178-181 ◽  
Author(s):  
Sylvain Briault ◽  
Laurent Villard ◽  
Ute Rogner ◽  
Johannes Coy ◽  
Sylvie Odent ◽  
...  
Keyword(s):  
X Chromosome ◽  
Chromosome Inversion ◽  
Inversion Breakpoints

scholarly journals Characterizing the frequency of non-allelic homologous recombination (NAHR) on the human X chromosome (Xq28) using digital inverted PCR

2020 ◽  
Author(s):  
Lou Ann Bierwert ◽  
Samantha Bryce ◽  
Robert B. Merritt
Keyword(s):  
High Resolution ◽  
Homologous Recombination ◽  
Local Adaptation ◽  
X Chromosome ◽  
Recombination Rate ◽  
Digital Pcr ◽  
Inversion Polymorphism ◽  
Inverted Repeats ◽  
Associated Diseases ◽  
A Site

AbstractLittle is currently known about the rates at which non-allelic homologous recombination (NAHR) occurs. However, most current research suggests that NAHR is rare. Previous work by Small, et al (1998), examined an inversion polymorphism on the long arm of the X-chromosome, involving two genes (FLNA and EMD), and determined the frequency of the two gene arrangements in a group of European individuals. Here we quantify the rate at which the causal NAHR, in inverted repeats flanking the FLNA and EMD genes, occurs in meiosis using digital PCR of sperm samples, with male cheek cells as controls. NAHR was documented in all samples, including the cheek cell samples at a mean recombination rate of 1.8%, indicating that NAHR occurs much more frequently than initially believed, and appears to be occurring in mitosis. The increase in NAHR frequency in spermatogenesis is not significant leaving in question NAHR occurrence in meiosis. This study reveals a more accurate way to quantitate NAHR, serving as an important first step in better understanding various NAHR-associated diseases.Author SummaryWe sought to more accurately quantitate and characterize NAHR at a site at the end of the long arm of the X chromosome that contains a set of inverted repeats flanking two genes, filamin and emerin. We determined that NAHR is happening far more frequently than previously thought, and in this case unequally, depending on the direction of the inversion. We speculate on the possibility of local adaptation playing a role in this. These high-resolution results were obtained by modifying a previously published assay which can be easily adapted to other inversions. This could be especially helpful in studying those NAHR inversions related to disease.

scholarly journals Variant Rett syndrome in a girl with a pericentric X‐chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene

2015 ◽  
Vol 46 (1) ◽  
pp. 82-87 ◽  
Author(s):  
José Pedro Vieira ◽  
Fátima Lopes ◽  
Anabela Silva‐Fernandes ◽  
Maria Vânia Sousa ◽  
Sofia Moura ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
Epigenetic Changes ◽  
Mecp2 Gene ◽  
Chromosome Inversion

Cytological differences and chromosomal rearrangements in four members of the Anopheles dirus complex (Diptera: Culicidae)

Genome ◽  
1988 ◽  
Vol 30 (3) ◽  
pp. 372-379 ◽  
Author(s):  
V. Baimai ◽  
A. Poopittayasataporn ◽  
U. Kijchalao
Keyword(s):  
X Chromosome ◽  
Chromosomal Rearrangements ◽  
Polytene Chromosomes ◽  
Natural Populations ◽  
Low Frequency ◽  
Anopheles Dirus ◽  
Chromosome Inversion ◽  
Banding Patterns ◽  
Complex Species ◽  
Band Size

A reference photomap of the larval salivary gland, polytene chromosomes of the Anopheles dims complex (species A) is presented. Samples of species A, B, C, and D from natural populations in Thailand were compared to this standard map using the larval progeny of wild-caught females. All species show differences in their chromosome banding patterns involving band size, number, and shape, particularly at the free ends of the X, 2R, and 2L. These differences provide useful diagnostic characters for separating members of the species complex. However, overall banding patterns are conservative in the group: species A, B, and C are virtually homosequential. Species D is highly polymorphic for a single paracentric inversion in each of the four autosomal arms and has a fixed inversion on the X chromosome. This same X chromosome inversion occurs at low frequency in species A.Key words: Anopheles dirus, larval polytene chromosome, inversion polymorphisms.

Salivary polytene chromosome mapping of Anopheles (Cellia) subpictus Grassi (Culicidae: Diptera)

Genome ◽  
2005 ◽  
Vol 48 (2) ◽  
pp. 241-246 ◽  
Author(s):  
S Chaudhry ◽  
Neetu ◽  
S Gupta ◽  
J S Chhilar
Keyword(s):  
Polytene Chromosome ◽  
X Chromosome ◽  
Dna Sequences ◽  
Molecular Taxonomy ◽  
Polytene Chromosomes ◽  
Chromosome Mapping ◽  
Anopheles Subpictus ◽  
Chromosome Inversion ◽  
Chromosome Maps ◽  
The Comparative Study

With the introduction of molecular taxonomy of mosquitoes, polytene chromosome maps have become indispensable as standard references for locating genes, puffs, and inversion breakpoints of unique DNA sequences. We present a line map and a photomap of the salivary polytene chromosomes of Anopheles (Cellia) subpictus Grassi, an important emerging vector of malaria in India. In addition, we discuss the nature of this species complex consisting of sibling species A, B, C, and D. The comparative study is in relevance to the X chromosome heterozygous inversion differences between 2 allopatric populations of the species and the recognition of 4 X-chromosome inversion genotypes viz: species A–X+a+b, B–Xab, C–Xa+b and D–X+ab.Key words: Anopheles subpictus, polytene chromosome map.

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