Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss‐of‐function filaminopathies

Loss‐of‐function mutations in the X‐linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo‐obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle layering. Survival in male hemizygotes for such mutations is...

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Published inHuman mutation Vol. 39; no. 1; pp. 103 - 113
Main Authors Jenkins, Zandra A, Macharg, Alison, Chang, Cheng‐Yee, Kogelenberg, Margriet, Morgan, Tim, Frentz, Sophia, Wei, Wenhua, Pilch, Jacek, Hannibal, Mark, Foulds, Nicola, McGillivray, George, Leventer, Richard J, García‐Miñaúr, Sixto, Sugito, Stuart, Nightingale, Scott, Markie, David M, Dudding, Tracy, Kapur, Raj P, Robertson, Stephen P
Format Journal Article
LanguageEnglish
Published United States Hindawi Limited 01.01.2018
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Abstract Loss‐of‐function mutations in the X‐linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo‐obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle layering. Survival in male hemizygotes for such mutations is dependent on retention of residual FLNA function but it is unclear why a subgroup of males with mutations in the 5′ end of the gene can present with CIPO alone. Here, we demonstrate evidence for the presence of two FLNA isoforms differing by 28 residues at the N‐terminus initiated at ATG+1 and ATG+82. A male with CIPO (c.18_19del) exclusively expressed FLNA ATG+82, implicating the longer protein isoform (ATG+1) in smooth muscle development. In contrast, mutations leading to reduction of both isoforms are associated with compound phenotypes affecting the brain, heart, and intestine. RNA‐seq data revealed three distinct transcription start sites, two of which produce a protein isoform utilizing ATG+1 while the third utilizes ATG+82. Transcripts sponsoring translational initiation at ATG+1 predominate in intestinal smooth muscle, and are more abundant compared with the level measured in fibroblasts. Together these observations describe a new mechanism of tissue‐specific regulation of FLNA that could reflect the differing mechanical requirements of these cell types during development. Loss‐of‐function mutations in the X‐linked gene FLNA lead to abnormal neuronal migration, vascular and cardiac defects and congenital intestinal pseudo‐obstruction (CIPO), characterised by anomalous intestinal smooth muscle layering. Males presenting with CIPO alone, are associated with variation in one of two identified transcripts differing by 28 residues at the N‐terminus which is predominately expressed in intestinal smooth muscle. These observations describe a new mechanism of tissue‐specific regulation of FLNA.
AbstractList Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo-obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle layering. Survival in male hemizygotes for such mutations is dependent on retention of residual FLNA function but it is unclear why a subgroup of males with mutations in the 5' end of the gene can present with CIPO alone. Here, we demonstrate evidence for the presence of two FLNA isoforms differing by 28 residues at the N-terminus initiated at ATG and ATG . A male with CIPO (c.18_19del) exclusively expressed FLNA ATG , implicating the longer protein isoform (ATG ) in smooth muscle development. In contrast, mutations leading to reduction of both isoforms are associated with compound phenotypes affecting the brain, heart, and intestine. RNA-seq data revealed three distinct transcription start sites, two of which produce a protein isoform utilizing ATG while the third utilizes ATG . Transcripts sponsoring translational initiation at ATG predominate in intestinal smooth muscle, and are more abundant compared with the level measured in fibroblasts. Together these observations describe a new mechanism of tissue-specific regulation of FLNA that could reflect the differing mechanical requirements of these cell types during development.
Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo-obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle layering. Survival in male hemizygotes for such mutations is dependent on retention of residual FLNA function but it is unclear why a subgroup of males with mutations in the 5' end of the gene can present with CIPO alone. Here, we demonstrate evidence for the presence of two FLNA isoforms differing by 28 residues at the N-terminus initiated at ATG+1 and ATG+82 . A male with CIPO (c.18_19del) exclusively expressed FLNA ATG+82 , implicating the longer protein isoform (ATG+1 ) in smooth muscle development. In contrast, mutations leading to reduction of both isoforms are associated with compound phenotypes affecting the brain, heart, and intestine. RNA-seq data revealed three distinct transcription start sites, two of which produce a protein isoform utilizing ATG+1 while the third utilizes ATG+82 . Transcripts sponsoring translational initiation at ATG+1 predominate in intestinal smooth muscle, and are more abundant compared with the level measured in fibroblasts. Together these observations describe a new mechanism of tissue-specific regulation of FLNA that could reflect the differing mechanical requirements of these cell types during development.
Loss‐of‐function mutations in the X‐linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal pseudo‐obstruction (CIPO), the latter characterized by anomalous intestinal smooth muscle layering. Survival in male hemizygotes for such mutations is dependent on retention of residual FLNA function but it is unclear why a subgroup of males with mutations in the 5′ end of the gene can present with CIPO alone. Here, we demonstrate evidence for the presence of two FLNA isoforms differing by 28 residues at the N‐terminus initiated at ATG+1 and ATG+82. A male with CIPO (c.18_19del) exclusively expressed FLNA ATG+82, implicating the longer protein isoform (ATG+1) in smooth muscle development. In contrast, mutations leading to reduction of both isoforms are associated with compound phenotypes affecting the brain, heart, and intestine. RNA‐seq data revealed three distinct transcription start sites, two of which produce a protein isoform utilizing ATG+1 while the third utilizes ATG+82. Transcripts sponsoring translational initiation at ATG+1 predominate in intestinal smooth muscle, and are more abundant compared with the level measured in fibroblasts. Together these observations describe a new mechanism of tissue‐specific regulation of FLNA that could reflect the differing mechanical requirements of these cell types during development. Loss‐of‐function mutations in the X‐linked gene FLNA lead to abnormal neuronal migration, vascular and cardiac defects and congenital intestinal pseudo‐obstruction (CIPO), characterised by anomalous intestinal smooth muscle layering. Males presenting with CIPO alone, are associated with variation in one of two identified transcripts differing by 28 residues at the N‐terminus which is predominately expressed in intestinal smooth muscle. These observations describe a new mechanism of tissue‐specific regulation of FLNA.
Author Morgan, Tim
Nightingale, Scott
Foulds, Nicola
Macharg, Alison
Markie, David M
Pilch, Jacek
Frentz, Sophia
Chang, Cheng‐Yee
Leventer, Richard J
García‐Miñaúr, Sixto
Wei, Wenhua
Kogelenberg, Margriet
Jenkins, Zandra A
Sugito, Stuart
Dudding, Tracy
McGillivray, George
Hannibal, Mark
Kapur, Raj P
Robertson, Stephen P
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Issue 1
Keywords filamin A
chronic intestinal pseudo-obstruction
transcriptional regulation
periventricular nodular heterotopia
Language English
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Communicated by Arnold Munnich
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Snippet Loss‐of‐function mutations in the X‐linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal...
Loss-of-function mutations in the X-linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal...
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StartPage 103
SubjectTerms Adolescent
Brain - abnormalities
Brain - diagnostic imaging
Cell migration
Child
chronic intestinal pseudo‐obstruction
Conserved Sequence
DNA Mutational Analysis
Female
Fibroblasts
filamin A
Filamins - chemistry
Filamins - genetics
Filamins - metabolism
Gastrointestinal Tract - metabolism
Gene Expression
Genetic Association Studies
Genetic Heterogeneity
Heart diseases
Humans
Intestine
Isoforms
Loss of Function Mutation
Magnetic Resonance Imaging
Male
Muscle, Smooth - metabolism
Mutation
N-Terminus
periventricular nodular heterotopia
Phenotype
Protein Isoforms
Ribonucleic acid
RNA
Smooth muscle
Transcription
Transcription, Genetic
transcriptional regulation
Translation initiation
Young Adult
Title Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss‐of‐function filaminopathies
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fhumu.23355
https://www.ncbi.nlm.nih.gov/pubmed/29024177
https://www.proquest.com/docview/1973642810
https://search.proquest.com/docview/1959331651
Volume 39
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