Opposite Expression Patterns of Spry3 and p75NTR in Cerebellar Vermis Suggest a Male-Specific Mechanism of Autism Pathogenesis
Autism is a genetically complex neurobehavioral disorder with a population prevalence of more than 1%. Cerebellar abnormalities, including Purkinje cell deficits in the vermis, are consistently reported, and rodent models of cerebellar dysfunction exhibit features analogous to human autism. We previ...
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Published in | Frontiers in psychiatry Vol. 10; p. 416 |
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Main Authors | , , , , |
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Language | English |
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Abstract | Autism is a genetically complex neurobehavioral disorder with a population prevalence of more than 1%. Cerebellar abnormalities, including Purkinje cell deficits in the vermis, are consistently reported, and rodent models of cerebellar dysfunction exhibit features analogous to human autism. We previously analyzed the regulation and expression of the pseudoautosomal region 2 gene
, which is adjacent to X chromosome-linked
, a known autism susceptibility gene.
is a regulator of branching morphogenesis and is strongly expressed in Purkinje cells. We previously showed that mouse
is not expressed in cerebellar vermis lobules VI-VII and X, regions which exhibit significant Purkinje cell loss or abnormalities in autism. However, these lobules have relatively high expression of
, which encodes a neurotrophin receptor implicated in autism. We propose a mechanism whereby inappropriate
expression in these lobules could interact with TrkB and p75NTR signaling pathways resulting in Purkinje cell pathology. We report preliminary characterization of X and Y chromosome-linked regulatory sequences upstream of
, which are polymorphic in the general population. We suggest that an OREG-annotated region on chromosome Yq12 ∼60 kb from
acts as a silencer of Y-linked
expression. Deletion of a β-satellite repeat, or alterations in chromatin structure in this region due to
-acting factors, could affect the proposed silencing function, leading to reactivation and inappropriate expression of Y-linked
. This proposed male-specific mechanism could contribute to the male bias in autism prevalence. |
---|---|
AbstractList | Autism is a genetically complex neurobehavioral disorder with a population prevalence of more than 1%. Cerebellar abnormalities, including Purkinje cell deficits in the vermis, are consistently reported, and rodent models of cerebellar dysfunction exhibit features analogous to human autism. We previously analyzed the regulation and expression of the pseudoautosomal region 2 gene
, which is adjacent to X chromosome-linked
, a known autism susceptibility gene.
is a regulator of branching morphogenesis and is strongly expressed in Purkinje cells. We previously showed that mouse
is not expressed in cerebellar vermis lobules VI-VII and X, regions which exhibit significant Purkinje cell loss or abnormalities in autism. However, these lobules have relatively high expression of
, which encodes a neurotrophin receptor implicated in autism. We propose a mechanism whereby inappropriate
expression in these lobules could interact with TrkB and p75NTR signaling pathways resulting in Purkinje cell pathology. We report preliminary characterization of X and Y chromosome-linked regulatory sequences upstream of
, which are polymorphic in the general population. We suggest that an OREG-annotated region on chromosome Yq12 ∼60 kb from
acts as a silencer of Y-linked
expression. Deletion of a β-satellite repeat, or alterations in chromatin structure in this region due to
-acting factors, could affect the proposed silencing function, leading to reactivation and inappropriate expression of Y-linked
. This proposed male-specific mechanism could contribute to the male bias in autism prevalence. Autism is a genetically complex neurobehavioral disorder with a population prevalence of more than 1%. Cerebellar abnormalities, including Purkinje cell deficits in the vermis, are consistently reported, and rodent models of cerebellar dysfunction exhibit features analogous to human autism. We previously analyzed the regulation and expression of the pseudoautosomal region 2 gene SPRY3, which is adjacent to X chromosome-linked TMLHE, a known autism susceptibility gene. SPRY3 is a regulator of branching morphogenesis and is strongly expressed in Purkinje cells. We previously showed that mouse Spry3 is not expressed in cerebellar vermis lobules VI–VII and X, regions which exhibit significant Purkinje cell loss or abnormalities in autism. However, these lobules have relatively high expression of p75NTR, which encodes a neurotrophin receptor implicated in autism. We propose a mechanism whereby inappropriate SPRY3 expression in these lobules could interact with TrkB and p75NTR signaling pathways resulting in Purkinje cell pathology. We report preliminary characterization of X and Y chromosome-linked regulatory sequences upstream of SPRY3, which are polymorphic in the general population. We suggest that an OREG-annotated region on chromosome Yq12 ∼60 kb from SPRY3 acts as a silencer of Y-linked SPRY3 expression. Deletion of a β-satellite repeat, or alterations in chromatin structure in this region due to trans-acting factors, could affect the proposed silencing function, leading to reactivation and inappropriate expression of Y-linked SPRY3. This proposed male-specific mechanism could contribute to the male bias in autism prevalence. Autism is a genetically complex neurobehavioral disorder with a population prevalence of more than 1%. Cerebellar abnormalities, including Purkinje cell deficits in the vermis, are consistently reported, and rodent models of cerebellar dysfunction exhibit features analogous to human autism. We previously analyzed the regulation and expression of the pseudoautosomal region 2 gene SPRY3 , which is adjacent to X chromosome-linked TMLHE , a known autism susceptibility gene. SPRY3 is a regulator of branching morphogenesis and is strongly expressed in Purkinje cells. We previously showed that mouse Spry3 is not expressed in cerebellar vermis lobules VI–VII and X, regions which exhibit significant Purkinje cell loss or abnormalities in autism. However, these lobules have relatively high expression of p75NTR , which encodes a neurotrophin receptor implicated in autism. We propose a mechanism whereby inappropriate SPRY3 expression in these lobules could interact with TrkB and p75NTR signaling pathways resulting in Purkinje cell pathology. We report preliminary characterization of X and Y chromosome-linked regulatory sequences upstream of SPRY3 , which are polymorphic in the general population. We suggest that an OREG-annotated region on chromosome Yq12 ∼60 kb from SPRY3 acts as a silencer of Y-linked SPRY3 expression. Deletion of a β-satellite repeat, or alterations in chromatin structure in this region due to trans -acting factors, could affect the proposed silencing function, leading to reactivation and inappropriate expression of Y-linked SPRY3 . This proposed male-specific mechanism could contribute to the male bias in autism prevalence. |
Author | Williams, John M Kumari, Romika Ning, Zhenfei Baranov, Pavel V Moore, Tom |
AuthorAffiliation | School of Biochemistry and Cell Biology, University College Cork , Cork , Ireland |
AuthorAffiliation_xml | – name: School of Biochemistry and Cell Biology, University College Cork , Cork , Ireland |
Author_xml | – sequence: 1 givenname: Zhenfei surname: Ning fullname: Ning, Zhenfei organization: School of Biochemistry and Cell Biology, University College Cork, Cork, Ireland – sequence: 2 givenname: John M surname: Williams fullname: Williams, John M organization: School of Biochemistry and Cell Biology, University College Cork, Cork, Ireland – sequence: 3 givenname: Romika surname: Kumari fullname: Kumari, Romika organization: School of Biochemistry and Cell Biology, University College Cork, Cork, Ireland – sequence: 4 givenname: Pavel V surname: Baranov fullname: Baranov, Pavel V organization: School of Biochemistry and Cell Biology, University College Cork, Cork, Ireland – sequence: 5 givenname: Tom surname: Moore fullname: Moore, Tom organization: School of Biochemistry and Cell Biology, University College Cork, Cork, Ireland |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31275178$$D View this record in MEDLINE/PubMed |
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Keywords | p75NTR TMLHE SPRY3 carnitine pseudoautosomal region autism cerebellum |
Language | English |
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Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Present address: Romika Kumari, Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland Edited by: Yu-Qiang Ding, Tongji University, China This article was submitted to Behavioral and Psychiatric Genetics, a section of the journal Frontiers in Psychiatry Reviewed by: Gabriëlla A M Blokland, Maastricht University, Netherlands; Curtis Kimball Deutsch, Eunice Kennedy Shriver Center, United States; Weihua Yue, Peking University Sixth Hospital, China |
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Snippet | Autism is a genetically complex neurobehavioral disorder with a population prevalence of more than 1%. Cerebellar abnormalities, including Purkinje cell... |
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SubjectTerms | autism cerebellum p75NTR pseudoautosomal region Psychiatry SPRY3 TMLHE |
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Title | Opposite Expression Patterns of Spry3 and p75NTR in Cerebellar Vermis Suggest a Male-Specific Mechanism of Autism Pathogenesis |
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