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Monday, August 3, 2020 | History

3 edition of X-chromosome inactivation in females with deletions at Xq27-q28 found in the catalog.

X-chromosome inactivation in females with deletions at Xq27-q28

Katerina Michalickova

X-chromosome inactivation in females with deletions at Xq27-q28

by Katerina Michalickova

  • 177 Want to read
  • 38 Currently reading

Published by National Library of Canada in Ottawa .
Written in


Edition Notes

Thesis (M.Sc.) -- University of Toronto, 1996.

SeriesCanadian theses = -- Thèses canadiennes
The Physical Object
FormatMicroform
Pagination2 microfiches : negative. --
ID Numbers
Open LibraryOL16970753M
ISBN 100612191710

X-chromosome inactivation (XCI) is the process by which one of two X-chromosomes is transcriptionally silenced in female mammals, equalizing the dose of X-linked genes in females (XX) and males (XY). XCI takes place early in embryonic development when each cell chooses to inactivate one of the X-chromosomes. Characterization of a deletion at Xqq28 associated with unbalanced inactivation of the nonmutant X chromosome. Am J Hum Genet. ; 51(2) (ISSN: ).

X-inactivation is a form of dosage compensation, in which an organism attempts to equalize the amount of X chromosome gene products in males and females. Since males only have one X chromosome, females inactivate one of theirs so that only one X chromosome is active in each gender. X chromosome inactivation (XCI) reduces the number of actively transcribed X chromosomes to one per diploid set of autosomes, allowing for dosage equality between the sexes. In eutherians, the inactive X chromosome in XX females is randomly selected. The mechanisms for determining both how many X chromosomes are present and which to inactivate are unknown.

X-inactivation is reversed in the female germline, so that all egg cells contain an active X chromosome. This phenomenon shows in the colouration of calico cats and tortoiseshell cats. These females are heterozygous for the X-linked colour genes: the genes for their coat colours are carried on the X chromosome. The process of X chromosome inactivation results in female cellular mosaicism: in a female, approximately half of the cells express genes derived from the maternal X chromosome .


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X-chromosome inactivation in females with deletions at Xq27-q28 by Katerina Michalickova Download PDF EPUB FB2

Additionally, it was found that a female Xq deletion patient with Hunter syndrome had unbalanced X chromosome inactivation in which the normal X chromosome was preferentially inactivated.

However, unlike Clarke’s patient [ 11 ], our patient lacked the typical features for storage diseases including macrocephaly, coarse features Cited by: 4.

Complete skewing with preferential inactivation of the deleted X chromosome was detected in another patient with a Mb deletion encompassing FMR1, AFF2, IDS, and additional RefSeq genes.

@article{osti_, title = {Myotubular Myopathy in a girl with a deletion of Xqq28 and unbalanced X inactivation assigns the MTM1 gene to a kb region}, author = {Dahl, N and Mandel, J L and Chery, M and Gilgenkrantz, S and Fardeau, M and Nivelon-Chevallier, A and Sidaner-Noisette, I and Mugneret, F and Gouyon, J B and Gal, A}, abstractNote = {A young girl with a clinically moderate.

A young girl with a clinically moderate form of myotubular myopathy was found to carry a cytogenetically detectable deletion in Xqq The deletion had occurred de novo on the paternal X chromosome.

It encompasses the fragile X (FRAXA) and Hunter syndrome (IDS) loci, and the DXS and DXS markers, in Xq and proximal XqCited by:   A literature review revealed rare cases with similar deletions that included IDS and FMR1 in females with developmental delay, variable features of Hunter syndrome, and skewed X-inactivation of the normal X chromosome.

In contrast, our patient exhibited skewed X-inactivation of the deleted X chromosome and tested negative for Hunter by: 4. Schmidt M. Do sequences in Xq play a role in X inactivation. Am J Med Genet.

43 ()– Schmidt M, Certoma A, Du Sart D, Kalitsis P, Leversha M, Fowler K, Sheffield L, Jack I, Danks DM. Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq implications for the fragile X syndrome.

Hum Genet. syndrome, and skewed X-inactivation of the normal X chromosome. In contrast, our patient exhibited skewed X-inactivation of the deleted X chromosome and tested negative for Hunter syndrome.

Conclusions: This is a report of a female with a Mb Xq deletion with skewed inactivation of the deleted X chromosome. Males have an X chromosome and a Y chromosome, while females have two X chromosomes.

Early in the development of females, one of the two X chromosomes is randomly and permanently inactivated in each cell (called X-inactivation). X-inactivation prevent female cells from having twice as many functional X chromosomes as males.

X-inactivation How XX human females (and other female mammals) shut down one of their X chromosomes in each cell. Disorders of sex chromosome number: Klinefelter, triple. It has been suggested that this deletion does not have phenotypic effects in females due to inactivation of the X chromosome with the deletion.

However, this deletion can be embryonic lethal in males, which can result in higher miscarriage rates in females heterozygous for this deletion [El-Hattab et alEl-Hattab et al ]. X-chromosome inactivation occurs randomly for one of the two X chromosomes in female cells during development.

Inactivation occurs when RNA transcribed from the Xist gene on the X chromosome from which it is expressed spreads to coat the whole X chromosome. In the first issue of Epigenetics and Chromatin, Nesterova and colleagues investigate the role of the RNA interference.

X-inactivation (also called lyonization, after English geneticist Mary Lyon) is a process by which one of the copies of the X chromosome is inactivated in therian female inactive X chromosome is silenced by it being packaged into a transcriptionally inactive structure called nearly all female mammals have two X chromosomes, X-inactivation prevents them from.

X-Chromosome Inactivation after Somatic Cloning. X-chromosome inactivation is the developmentally regulated process by which one of the two X-chromosomes in female mammals is silenced early in development to provide dosage compensation for X-linked genes.

A single X-chromosome is sufficient, as shown in XY males (Lyon, ). X-inactivation ensures that females, like males, have one functional copy of the X chromosome in each body cell. Because X-inactivation is random, in normal females the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells.

Characterization of a deletion at Xqq28 associated with unbalanced inactivation of the nonmutant X chromosome. Am J Hum Genet. Aug; 51 (2)– [PMC free article] Brown CJ, Flenniken AM, Williams BR, Willard HF.

X chromosome inactivation of the human TIMP gene. Nucleic Acids Res. Jul 25; 18 (14)– R.A. Reijo Pera, L. Prezzoto, in Current Topics in Developmental Biology, X-chromosome Inactivation. X-chromosome dosage is compensated between both sexes in mammals via inactivation of one of the two parental X chromosomes while maintaining active expression of a subset of genes on both chromosomes.

Genes that escape X inactivation are generally those associated with Y. X-inactivation studies showed completely skewed inactivation in 3 of 5 female carriers. Inheritance The transmission pattern of the chromosome Xqq28 duplication syndrome in the family reported by Rio et al.

() was consistent with X-linked recessive inheritance. Additionally, an association between Xq deletions and skewed X-inactivation of the normal X chromosome observed in previous studies suggested a primary role of the Xq region in presentationWe describe the clinical, molecular and biochemical evaluations of a four year-old female patient with global developmental.

This book details recently developed technologies and conventionally employed cytological proceduresfor the study of X-Chromosome Inactivation. Chapters detail live imaging, bioinformatic methods, fluorescence in situ hybridization, and immunofluorescence, and procedures to optimize the study of molecular mechanism underlying X chromosome.

A normal XY male, or an XO female, shows no inactivation of the unique X chromosome, whereas XXX and even XXXX individuals display one active X chromosome and inactivation of all supernumerary X.

The X chromosome determines your sex, gives some females super color vision and lends its magic to a certain breed of cat. In the nucleus of each cell, DNA packaged in thread-like structures called chromosomes.

Most human cells contain 23 pairs of chromosomes. One set of chromosomes comes from the.Epigenetic factors are responsible for the silent X.

Inactivation occurs early in the embryonic development, and it is not possible directly to observe it. Although the fundamental mechanism of X inactivation is thoroughly discussed and analyzed in the book, a number of questions remain to be resolved.

For example, the mechanism by which all but one X chromosome are selected for inactivation.In humans and other mammals, female cells carry two X-chromosomes, whereas male cells carry a single X and Y-chromosome.

To achieve an equal expression level of X-linked genes in both sexes, a dosage compensation mechanism evolved, which results in transcriptional silencing of one X-chromosome in females.

X chromosome inactivation (XCI) is random with respect to the parental .