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Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype
by
Sado, Takashi
, Ishino, Fumitoshi
, Hosoi, Yusuke
, Hasuwa, Hidetoshi
, Kohda, Takashi
, Shiura, Hirosuke
, Soma, Miki
, Kobayashi, Shin
, Abe, Kuniya
in
38/32
/ 38/39
/ 38/61
/ 38/71
/ 38/88
/ 631/136/1455
/ 631/136/2442
/ 631/208/176/1433
/ 631/337/176
/ 64/60
/ 82/1
/ Abnormalities
/ Animals
/ Chromosomes
/ Clonal deletion
/ Deactivation
/ Epigenetics
/ Eye - pathology
/ Eye Abnormalities - genetics
/ Eye Abnormalities - pathology
/ Female
/ Females
/ Gene deletion
/ Gene silencing
/ Heredity
/ Humanities and Social Sciences
/ Humans
/ Inactivation
/ Inheritance Patterns - genetics
/ Male
/ Males
/ Mice
/ Mice, Inbred C57BL
/ Microphthalmia
/ Microphthalmos - genetics
/ Microphthalmos - pathology
/ MicroRNAs - genetics
/ MicroRNAs - metabolism
/ multidisciplinary
/ Pedigree
/ Phenotype
/ Phenotypes
/ Proteins
/ Ribonucleic acid
/ RNA
/ RNA, Long Noncoding - genetics
/ RNA, Long Noncoding - metabolism
/ Science
/ Science (multidisciplinary)
/ Somatic cells
/ Transcriptome - genetics
/ X Chromosome Inactivation - genetics
/ X chromosomes
/ X-chromosome inactivation
2018
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Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype
by
Sado, Takashi
, Ishino, Fumitoshi
, Hosoi, Yusuke
, Hasuwa, Hidetoshi
, Kohda, Takashi
, Shiura, Hirosuke
, Soma, Miki
, Kobayashi, Shin
, Abe, Kuniya
in
38/32
/ 38/39
/ 38/61
/ 38/71
/ 38/88
/ 631/136/1455
/ 631/136/2442
/ 631/208/176/1433
/ 631/337/176
/ 64/60
/ 82/1
/ Abnormalities
/ Animals
/ Chromosomes
/ Clonal deletion
/ Deactivation
/ Epigenetics
/ Eye - pathology
/ Eye Abnormalities - genetics
/ Eye Abnormalities - pathology
/ Female
/ Females
/ Gene deletion
/ Gene silencing
/ Heredity
/ Humanities and Social Sciences
/ Humans
/ Inactivation
/ Inheritance Patterns - genetics
/ Male
/ Males
/ Mice
/ Mice, Inbred C57BL
/ Microphthalmia
/ Microphthalmos - genetics
/ Microphthalmos - pathology
/ MicroRNAs - genetics
/ MicroRNAs - metabolism
/ multidisciplinary
/ Pedigree
/ Phenotype
/ Phenotypes
/ Proteins
/ Ribonucleic acid
/ RNA
/ RNA, Long Noncoding - genetics
/ RNA, Long Noncoding - metabolism
/ Science
/ Science (multidisciplinary)
/ Somatic cells
/ Transcriptome - genetics
/ X Chromosome Inactivation - genetics
/ X chromosomes
/ X-chromosome inactivation
2018
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Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype
by
Sado, Takashi
, Ishino, Fumitoshi
, Hosoi, Yusuke
, Hasuwa, Hidetoshi
, Kohda, Takashi
, Shiura, Hirosuke
, Soma, Miki
, Kobayashi, Shin
, Abe, Kuniya
in
38/32
/ 38/39
/ 38/61
/ 38/71
/ 38/88
/ 631/136/1455
/ 631/136/2442
/ 631/208/176/1433
/ 631/337/176
/ 64/60
/ 82/1
/ Abnormalities
/ Animals
/ Chromosomes
/ Clonal deletion
/ Deactivation
/ Epigenetics
/ Eye - pathology
/ Eye Abnormalities - genetics
/ Eye Abnormalities - pathology
/ Female
/ Females
/ Gene deletion
/ Gene silencing
/ Heredity
/ Humanities and Social Sciences
/ Humans
/ Inactivation
/ Inheritance Patterns - genetics
/ Male
/ Males
/ Mice
/ Mice, Inbred C57BL
/ Microphthalmia
/ Microphthalmos - genetics
/ Microphthalmos - pathology
/ MicroRNAs - genetics
/ MicroRNAs - metabolism
/ multidisciplinary
/ Pedigree
/ Phenotype
/ Phenotypes
/ Proteins
/ Ribonucleic acid
/ RNA
/ RNA, Long Noncoding - genetics
/ RNA, Long Noncoding - metabolism
/ Science
/ Science (multidisciplinary)
/ Somatic cells
/ Transcriptome - genetics
/ X Chromosome Inactivation - genetics
/ X chromosomes
/ X-chromosome inactivation
2018
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Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype
Journal Article
Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype
2018
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Overview
X-chromosome inactivation (XCI) is an essential epigenetic process in female mammalian development. Although cell-based studies suggest the potential importance of the
Ftx
long non-protein-coding RNA (lncRNA) in XCI, its physiological roles in vivo remain unclear. Here we show that targeted deletion of X-linked mouse
Ftx
lncRNA causes eye abnormalities resembling human microphthalmia in a subset of females but rarely in males. This inheritance pattern cannot be explained by X-linked dominant or recessive inheritance, where males typically show a more severe phenotype than females. In
Ftx
-deficient mice, some X-linked genes remain active on the inactive X, suggesting that defects in random XCI in somatic cells cause a substantially female-specific phenotype. The expression level of
Xist
, a master regulator of XCI, is diminished in females homozygous or heterozygous for
Ftx
deficiency. We propose that loss-of-
Ftx
lncRNA abolishes gene silencing on the inactive X chromosome, leading to a female microphthalmia-like phenotype.
Although
Ftx
lncRNA has been linked to X-chromosome inactivation, its physiological roles in vivo remain unclear. Here the authors show that deletion of mouse
Ftx
causes eye abnormalities similar to human microphthalmia in a subset of female mice but rarely in males and provide evidence that
Ftx
plays a role in gene silencing on the inactive X chromosome.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 38/39
/ 38/61
/ 38/71
/ 38/88
/ 64/60
/ 82/1
/ Animals
/ Eye Abnormalities - genetics
/ Eye Abnormalities - pathology
/ Female
/ Females
/ Heredity
/ Humanities and Social Sciences
/ Humans
/ Inheritance Patterns - genetics
/ Male
/ Males
/ Mice
/ Pedigree
/ Proteins
/ RNA
/ RNA, Long Noncoding - genetics
/ RNA, Long Noncoding - metabolism
/ Science
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