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Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases

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Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases. / Douvaras, Panagiotis; Liu, Weijia; Mort, Richard L.; McKie, Lisa; West, Katrine M.; Cross, Sally H.; Morley, Steven D.; West, John D.

In: BMC Research Notes, Vol. 5, 122, 27.02.2012.

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Douvaras, P, Liu, W, Mort, RL, McKie, L, West, KM, Cross, SH, Morley, SD & West, JD 2012, 'Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases', BMC Research Notes, vol. 5, 122. https://doi.org/10.1186/1756-0500-5-122

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Douvaras, Panagiotis ; Liu, Weijia ; Mort, Richard L. ; McKie, Lisa ; West, Katrine M. ; Cross, Sally H. ; Morley, Steven D. ; West, John D. / Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases. In: BMC Research Notes. 2012 ; Vol. 5.

Bibtex

@article{7e9dbd6218ae4617a7dec612e651f801,
title = "Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases",
abstract = "BACKGROUND: Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA) mutations, display a range of disorders and X-inactivation mosaicism is sometimes quantitatively unbalanced. FlnaDilp2/+ mice, heterozygous for an X-linked filamin A (Flna) nonsense mutation have variable eye, skeletal and other abnormalities, but X-inactivation mosaicism has not been investigated. The aim of this study was to determine whether X-inactivation mosaicism in the corneal epithelia of FlnaDilp2/+ mice was affected in any way that might predict abnormal corneal epithelial maintenance.RESULTS: X-chromosome inactivation mosaicism was studied in the corneal epithelium and a control tissue (liver) of FlnaDilp2/+ and wild-type (WT) female X-inactivation mosaics, hemizygous for the X-linked, LacZ reporter H253 transgene, using β-galactosidase histochemical staining. The corneal epithelia of FlnaDilp2/+ and WT X-inactivation mosaics showed similar radial, striped patterns, implying epithelial cell movement was not disrupted in FlnaDilp2/+ corneas. Corrected stripe numbers declined with age overall (but not significantly for either genotype individually), consistent with previous reports suggesting an age-related reduction in stem cell function. Corrected stripe numbers were not reduced in FlnaDilp2/+ compared with WT X-inactivation mosaics and mosaicism was not significantly more unbalanced in the corneal epithelia or livers of FlnaDilp2/+ than wild-type Flna+/+ X-inactivation mosaics.CONCLUSIONS: Mosaic analysis identified no major effect of the mouse FlnaDilp2 mutation on corneal epithelial maintenance or the balance of X-inactivation mosaicism in the corneal epithelium or liver.",
keywords = "Age Factors, Animals, Cell Movement, Epithelium, Corneal, Eye Proteins, Female, Filamins, Genes, X-Linked, Genotype, Heterozygote, Histocytochemistry, Humans, Lac Operon, Liver, Mice, Mice, Transgenic, Mosaicism, Mutation, Nerve Tissue Proteins, Transgenes, X Chromosome Inactivation, beta-Galactosidase, Journal Article, Research Support, Non-U.S. Gov't",
author = "Panagiotis Douvaras and Weijia Liu and Mort, {Richard L.} and Lisa McKie and West, {Katrine M.} and Cross, {Sally H.} and Morley, {Steven D.} and West, {John D.}",
year = "2012",
month = "2",
day = "27",
doi = "10.1186/1756-0500-5-122",
language = "English",
volume = "5",
journal = "BMC Research Notes",
issn = "1756-0500",
publisher = "BioMed Central",

}

RIS

TY - JOUR

T1 - Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases

AU - Douvaras, Panagiotis

AU - Liu, Weijia

AU - Mort, Richard L.

AU - McKie, Lisa

AU - West, Katrine M.

AU - Cross, Sally H.

AU - Morley, Steven D.

AU - West, John D.

PY - 2012/2/27

Y1 - 2012/2/27

N2 - BACKGROUND: Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA) mutations, display a range of disorders and X-inactivation mosaicism is sometimes quantitatively unbalanced. FlnaDilp2/+ mice, heterozygous for an X-linked filamin A (Flna) nonsense mutation have variable eye, skeletal and other abnormalities, but X-inactivation mosaicism has not been investigated. The aim of this study was to determine whether X-inactivation mosaicism in the corneal epithelia of FlnaDilp2/+ mice was affected in any way that might predict abnormal corneal epithelial maintenance.RESULTS: X-chromosome inactivation mosaicism was studied in the corneal epithelium and a control tissue (liver) of FlnaDilp2/+ and wild-type (WT) female X-inactivation mosaics, hemizygous for the X-linked, LacZ reporter H253 transgene, using β-galactosidase histochemical staining. The corneal epithelia of FlnaDilp2/+ and WT X-inactivation mosaics showed similar radial, striped patterns, implying epithelial cell movement was not disrupted in FlnaDilp2/+ corneas. Corrected stripe numbers declined with age overall (but not significantly for either genotype individually), consistent with previous reports suggesting an age-related reduction in stem cell function. Corrected stripe numbers were not reduced in FlnaDilp2/+ compared with WT X-inactivation mosaics and mosaicism was not significantly more unbalanced in the corneal epithelia or livers of FlnaDilp2/+ than wild-type Flna+/+ X-inactivation mosaics.CONCLUSIONS: Mosaic analysis identified no major effect of the mouse FlnaDilp2 mutation on corneal epithelial maintenance or the balance of X-inactivation mosaicism in the corneal epithelium or liver.

AB - BACKGROUND: Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA) mutations, display a range of disorders and X-inactivation mosaicism is sometimes quantitatively unbalanced. FlnaDilp2/+ mice, heterozygous for an X-linked filamin A (Flna) nonsense mutation have variable eye, skeletal and other abnormalities, but X-inactivation mosaicism has not been investigated. The aim of this study was to determine whether X-inactivation mosaicism in the corneal epithelia of FlnaDilp2/+ mice was affected in any way that might predict abnormal corneal epithelial maintenance.RESULTS: X-chromosome inactivation mosaicism was studied in the corneal epithelium and a control tissue (liver) of FlnaDilp2/+ and wild-type (WT) female X-inactivation mosaics, hemizygous for the X-linked, LacZ reporter H253 transgene, using β-galactosidase histochemical staining. The corneal epithelia of FlnaDilp2/+ and WT X-inactivation mosaics showed similar radial, striped patterns, implying epithelial cell movement was not disrupted in FlnaDilp2/+ corneas. Corrected stripe numbers declined with age overall (but not significantly for either genotype individually), consistent with previous reports suggesting an age-related reduction in stem cell function. Corrected stripe numbers were not reduced in FlnaDilp2/+ compared with WT X-inactivation mosaics and mosaicism was not significantly more unbalanced in the corneal epithelia or livers of FlnaDilp2/+ than wild-type Flna+/+ X-inactivation mosaics.CONCLUSIONS: Mosaic analysis identified no major effect of the mouse FlnaDilp2 mutation on corneal epithelial maintenance or the balance of X-inactivation mosaicism in the corneal epithelium or liver.

KW - Age Factors

KW - Animals

KW - Cell Movement

KW - Epithelium, Corneal

KW - Eye Proteins

KW - Female

KW - Filamins

KW - Genes, X-Linked

KW - Genotype

KW - Heterozygote

KW - Histocytochemistry

KW - Humans

KW - Lac Operon

KW - Liver

KW - Mice

KW - Mice, Transgenic

KW - Mosaicism

KW - Mutation

KW - Nerve Tissue Proteins

KW - Transgenes

KW - X Chromosome Inactivation

KW - beta-Galactosidase

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1186/1756-0500-5-122

DO - 10.1186/1756-0500-5-122

M3 - Journal article

C2 - 22369496

VL - 5

JO - BMC Research Notes

JF - BMC Research Notes

SN - 1756-0500

M1 - 122

ER -