Cited 17 times in
Autism-like behaviors in male mice with a Pcdh19 deletion
DC Field | Value | Language |
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dc.contributor.author | 김철훈 | - |
dc.date.accessioned | 2020-02-11T06:42:03Z | - |
dc.date.available | 2020-02-11T06:42:03Z | - |
dc.date.issued | 2019 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/174796 | - |
dc.description.abstract | Mutations in protocadherin 19 (PCDH19), which is on the X-chromosome, cause the brain disease Epilepsy in Females with Mental Retardation (EFMR). EFMR is also often associated with autism-like symptoms. In mice and humans, epilepsy occurs only in heterozygous females who have a mixture of PCDH19 wild-type (WT) and mutant cells caused by random X-inactivation; it does not occur in hemizygous PCDH19 mutant males. This unique inheritance pattern strongly suggests the underlying disease mechanism operates via interference between WT and mutant cells rather than being a result of complete loss of PCDH19 functions. Although it remains unclear whether the other symptoms of EFMR also conform to this unique genotype-phenotype relationship, PCDH19 mutant males were recently reported to demonstrate autism-like symptoms. We, therefore, used a Pcdh19 knockout (KO) mouse model to ask whether a complete lack of PCDH19 causes autism-like behaviors. Consistent with the autism observed in EFMR females, we found Pcdh19 heterozygous KO female mice (with mosaic expression of PCDH19) show defects in sociability in the 3-chamber test. Surprisingly, hemizygous Pcdh19 KO male mice (without any PCDH19 expression) exhibit impaired sociability in the 3-chamber test and reduced social interactions in the reciprocal social interaction test. We also observed that, compared to WT mice, mutant mice display more repetitive behaviors, including self-grooming and rearing. These findings indicate that hemizygous Pcdh19 KO male mice show autism-like phenotypes. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | BioMed Central | - |
dc.relation.isPartOf | MOLECULAR BRAIN | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Autism-like behaviors in male mice with a Pcdh19 deletion | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pharmacology (약리학교실) | - |
dc.contributor.googleauthor | Jisoo Lim | - |
dc.contributor.googleauthor | Jiin Ryu | - |
dc.contributor.googleauthor | Shinwon Kang | - |
dc.contributor.googleauthor | Hyun Jong Noh | - |
dc.contributor.googleauthor | Chul Hoon Kim | - |
dc.identifier.doi | 10.1186/s13041-019-0519-3 | - |
dc.contributor.localId | A01057 | - |
dc.relation.journalcode | J02251 | - |
dc.identifier.eissn | 1756-6606 | - |
dc.identifier.pmid | 31747920 | - |
dc.contributor.alternativeName | Kim, Chul Hoon | - |
dc.contributor.affiliatedAuthor | 김철훈 | - |
dc.citation.volume | 12 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 95 | - |
dc.identifier.bibliographicCitation | MOLECULAR BRAIN, Vol.12(1) : 95, 2019 | - |
dc.identifier.rimsid | 63528 | - |
dc.type.rims | ART | - |
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