Skewing of X‐chromosome inactivation in three generations of carriers with X‐linked chronic granulomatous disease within one family

Köker, Mustafa Yavuz; Sanal, Özden; Boer, Martin de; Tezcan, İlhan; Metìn, Ayşe; Tan, Çağman; Ersoy, F; Roos, Dirk

doi:10.1111/j.1365-2362.2006.01619.x

Cited by 27 publications

(26 citation statements)

References 29 publications

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“…1D). This has been observed for example in female carriers for X-CGD [31]. In addition, up to 15% of the genes located on the X chromosome escape permanent inactivation and 10% show variable patterns of inactivation among females [14].…”

Section: Mosaicism Of Female Cells Confers Them With a Survival Advanmentioning

confidence: 87%

X‐chromosome‐located microRNAs in immunity: Might they explain male/female differences?

2011

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In this paper, we hypothesize that X chromosome-associated mechanisms, which affect X-linked genes and are behind the immunological advantage of females, may also affect X-linked microRNAs. The human X chromosome contains 10% of all microRNAs detected so far in the human genome. Although the role of most of them has not yet been described, several X chromosome-located microRNAs have important functions in immunity and cancer. We therefore provide a detailed map of all described microRNAs located on human and mouse X chromosomes, and highlight the ones involved in immune functions and oncogenesis. The unique mode of inheritance of the X chromosome is ultimately the cause of the immune disadvantage of males and the enhanced survival of females following immunological challenges. How these aspects influence X-linked microRNAs will be a challenge for researchers in the coming years, not only from an evolutionary point of view, but also from the perspective of disease etiology.

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Section: Mosaicism Of Female Cells Confers Them With a Survival Advanmentioning

confidence: 87%

X‐chromosome‐located microRNAs in immunity: Might they explain male/female differences?

2011

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“…The physical appearance of the Xi was first noted by Barr and Carr who reported a correlation between distinct dense perinuclear heterochromatic bodies in interphase nuclei and the number of X chromosomes in a range of human karyotypes from (45,X0), (46,XY), (46,XX), to mosaics of (45,X0/47,XXX) and (46,XY/48,XXXY) [35]. Since then, Xi is also called the Barr body, and can be seen with staining (Fig.…”

Section: The Barr Bodymentioning

confidence: 93%

X Chromosome Inactivation and Autoimmunity

Brooks

2009

Clinic Rev Allerg Immunol

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Autoimmune diseases appear to have multiple contributing factors including genetics, epigenetics, environmental factors, and aging. The predominance of females among patients with autoimmune diseases suggests possible involvement of the X chromosome and X chromosome inactivation. X chromosome inactivation is an epigenetic event resulting in multiple levels of control for modulation of the expression of X-linked genes in normal female cells such that there remains only one active X chromosome in the cell. The extent of this control is unique among the chromosomes and has the potential for problems when regulation is disrupted. Here we discuss the X chromosome inactivation process and how the X chromosome and X chromosome inactivation may be involved in development of autoimmune disorders.

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“…Functional analysis of neutrophils was performed according to the previously described methods, with slight modifications [17][18][19][20]. For the dihydrorhodamine-1,2,3 (DHR) assay, total white cells were isolated from 100 to 200 lL of human peripheral blood by lysis of the erythrocytes in the pellet fraction with a non-fixing lysis solution of 155 mM (isotonic) NH 4 Cl, 10 mM NaHCO 3 and 0AE1 M EDTA.…”

Section: Neutrophil Analysismentioning

confidence: 99%

Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations

Köker¹,

Sanal

Leeuwen

et al. 2009

Eur J Clin Investigation

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Skewing of X‐chromosome inactivation in three generations of carriers with X‐linked chronic granulomatous disease within one family

Abstract: These novel findings indicate that the age-related degree of skewing was probably a chance finding, not related to preferential survival of NADPH oxidase-deficient precursor cells, because this enzyme is not expressed in (buccal) epithelial cells.

Cited by 27 publications

References 29 publications

X‐chromosome‐located microRNAs in immunity: Might they explain male/female differences?

X‐chromosome‐located microRNAs in immunity: Might they explain male/female differences?

X Chromosome Inactivation and Autoimmunity

Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations

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