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Article ; Online: Experiencing genetic counseling at the undergraduate level: A course to enrich student horizons.

Merchant, Sajid / McDermid, Heather E

2019 Volume 28, Issue 6, Page(s) 1214–1218

Language	English
Publishing date	2019-09-25
Publishing country	United States
Document type	Journal Article
ZDB-ID	1117799-8
ISSN	1573-3599 ; 1059-7700
ISSN (online)	1573-3599
ISSN	1059-7700
DOI	10.1002/jgc4.1166
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Article ; Online: Chromatin remodeling factor CECR2 forms tissue-specific complexes with CCAR2 and LUZP1.

Niri, Farshad / Terpstra, Alaina N / Lim, Kenji Rowel Q / McDermid, Heather E

Biochemistry and cell biology = Biochimie et biologie cellulaire

2021 Volume 99, Issue 6, Page(s) 759–765

Abstract: Chromatin remodeling complexes alter chromatin structure to control access to DNA and therefore control cellular processes such as transcription, DNA replication, and DNA repair. CECR2 is a chromatin remodeling factor that plays an important role in ... ...

Abstract	Chromatin remodeling complexes alter chromatin structure to control access to DNA and therefore control cellular processes such as transcription, DNA replication, and DNA repair. CECR2 is a chromatin remodeling factor that plays an important role in neural tube closure and reproduction. Loss-of-function mutations in
MeSH term(s)	Adaptor Proteins, Signal Transducing/metabolism ; Animals ; Chromatin ; Chromatin Assembly and Disassembly ; DNA Repair ; DNA-Binding Proteins/metabolism ; Female ; Male ; Mice ; Neural Tube Defects ; Pregnancy ; Transcription Factors/metabolism
Chemical Substances	Adaptor Proteins, Signal Transducing ; CECR2 protein, mouse ; Chromatin ; DNA-Binding Proteins ; Luzp1 protein, mouse ; Transcription Factors
Language	English
Publishing date	2021-07-01
Publishing country	Canada
Document type	Journal Article
ZDB-ID	54104-7
ISSN	1208-6002 ; 0829-8211
ISSN (online)	1208-6002
ISSN	0829-8211
DOI	10.1139/bcb-2021-0019
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Article ; Online: Reported DNA repair protein CECR2, which is associated with neural tube defects in mice, is not required for double-strand break repair in primary neurospheres.

Elliott, Justin / Norton, Kacie A / Niri, Farshad H / McDermid, Heather E

DNA repair

2020 Volume 94, Page(s) 102876

MeSH term(s)	Animals ; Chromatin Assembly and Disassembly ; DNA/metabolism ; DNA Breaks, Double-Stranded ; DNA Repair ; Mice ; Neural Tube Defects/genetics ; Neural Tube Defects/metabolism ; Transcription Factors/metabolism
Chemical Substances	CECR2 protein, mouse ; Transcription Factors ; DNA (9007-49-2)
Language	English
Publishing date	2020-06-03
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2071608-4
ISSN	1568-7856 ; 1568-7864
ISSN (online)	1568-7856
ISSN	1568-7864
DOI	10.1016/j.dnarep.2020.102876
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Article ; Online: Cecr2 mutant mice as a model for human cat eye syndrome.

Dicipulo, Renée / Norton, Kacie A / Fairbridge, Nicholas A / Kibalnyk, Yana / Fox, Sabrina C / Hornberger, Lisa K / McDermid, Heather E

Scientific reports

2021 Volume 11, Issue 1, Page(s) 3111

Abstract: Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have not been ... ...

Abstract	Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have not been produced due to the difficulty of effectively duplicating the corresponding chromosome region in an animal model. However, the study of phenotypes associated with individual genes in this region such as CECR2 may shed light on the etiology of CES. In this study we have shown that deleterious loss of function mutations in mouse Cecr2 effectively demonstrate many of the abnormal features present in human patients with CES, including coloboma and specific skeletal, kidney and heart defects. Beyond phenotypic analyses we have demonstrated the importance of utilizing multiple genetic backgrounds to study disease models, as we see major differences in penetrance of Cecr2-related abnormal phenotype between mouse strains, reminiscent of the variability in the human syndrome. These findings suggest that Cecr2 is involved in the abnormal features of CES and that Cecr2 mice can be used as a model system to study the wide range of phenotypes present in CES.
MeSH term(s)	Aneuploidy ; Animals ; Bone and Bones/metabolism ; Bone and Bones/pathology ; Chromosome Disorders/genetics ; Chromosome Disorders/metabolism ; Chromosome Disorders/pathology ; Chromosome Duplication ; Chromosomes, Human, Pair 22/chemistry ; Chromosomes, Human, Pair 22/genetics ; Chromosomes, Human, Pair 22/metabolism ; Coloboma/genetics ; Coloboma/metabolism ; Coloboma/pathology ; Disease Models, Animal ; Embryo, Mammalian ; Eye Abnormalities/genetics ; Eye Abnormalities/metabolism ; Eye Abnormalities/pathology ; Female ; Gene Expression ; Heart Diseases/genetics ; Heart Diseases/metabolism ; Heart Diseases/pathology ; Humans ; Kidney/metabolism ; Kidney/pathology ; Loss of Function Mutation ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Mice, Knockout ; Penetrance ; Species Specificity ; Transcription Factors/deficiency ; Transcription Factors/genetics
Chemical Substances	CECR2 protein, mouse ; Transcription Factors
Language	English
Publishing date	2021-02-04
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-021-82556-y
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Article ; Online: Subfertility in young male mice mutant for chromatin remodeller CECR2.

Norton, Kacie A / Humphreys, Ross / Weatherill, Chelsey / Duong, Kevin / Nguyen, Vivian V / Kommadath, Arun / Niri, Farshad / Stothard, Paul / McDermid, Heather E

Reproduction (Cambridge, England)

2022 Volume 163, Issue 2, Page(s) 69–83

Abstract: Defects in spermatogenesis are an important cause of male infertility. Multiple aspects of spermatogenesis are controlled by chromatin remodellers, including regulating transcription. We previously described mutations in chromatin remodelling gene Cecr2 ... ...

Abstract	Defects in spermatogenesis are an important cause of male infertility. Multiple aspects of spermatogenesis are controlled by chromatin remodellers, including regulating transcription. We previously described mutations in chromatin remodelling gene Cecr2 that resulted in the lethal neural tube defect exencephaly in most mutant mice and subfertility in mice that were non-penetrant for exencephaly. Here, we show that the severity of male subfertility is dependent on age. Cecr2GT/Del males contain two mutant alleles, one of which is hypomorphic and therefore produces a small amount of protein. These males sire the fewest pups just after sexual maturity (88% fewer than Cecr2+/+ at P42-60) but improve with age (49% fewer than Cecr2+/+ at P81-100), although never completely recovering to Cecr2+/+(wild type) levels. When young, they also have defects in testis histology, in vivo fertilization frequency, sperm number and motility, and testis weight that show similar improvement with age. Immunostaining of staged seminiferous tubules showed CECR2 in type A, intermediate and B spermatogonia, and less in preleptotene and leptotene spermatocytes. Histological defects were first apparent in Cecr2GT/Del testes at P24, and RNA-seq analysis revealed 387 differentially expressed genes. This included 66 genes on the X chromosome (almost double the number on any other chromosome), all more highly expressed in Cecr2GT/Del testes. This inappropriate expression of X chromosome genes could be caused by a failure of effective meiotic sex chromosome inactivation. We identify several abnormally expressed genes that may contribute to defects in spermatogenesis at P24. Our results support a role for Cecr2 in juvenile spermatogenesis.
MeSH term(s)	Animals ; Chromatin ; Chromatin Assembly and Disassembly ; Infertility, Male/genetics ; Infertility, Male/metabolism ; Male ; Mice ; Spermatogenesis/genetics ; Testis/metabolism ; Transcription Factors/metabolism
Chemical Substances	CECR2 protein, mouse ; Chromatin ; Transcription Factors
Language	English
Publishing date	2022-01-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2034501-X
ISSN	1741-7899 ; 1470-1626 ; 1476-3990
ISSN (online)	1741-7899
ISSN	1470-1626 ; 1476-3990
DOI	10.1530/REP-19-0507
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Article ; Online: Implantation failure and embryo loss contribute to subfertility in female mice mutant for chromatin remodeler Cecr2†.

Norton, Kacie A / Niri, Farshad / Weatherill, Chelsey B / Williams, Christine E / Duong, Kevin / McDermid, Heather E

Biology of reproduction

2020 Volume 104, Issue 4, Page(s) 835–849

Abstract: Defects in the maternal reproductive system that result in early pregnancy loss are important causes of human female infertility. A wide variety of biological processes are involved in implantation and establishment of a successful pregnancy. Although ... ...

Abstract	Defects in the maternal reproductive system that result in early pregnancy loss are important causes of human female infertility. A wide variety of biological processes are involved in implantation and establishment of a successful pregnancy. Although chromatin remodelers have been shown to play an important role in many biological processes, our understanding of the role of chromatin remodelers in female reproduction remains limited. Here, we demonstrate that female mice mutant for chromatin remodeler Cecr2 are subfertile, with defects detected at the peri-implantation stage or early pregnancy. Using both a less severe hypomorphic mutation (Cecr2GT) and a more severe presumptive null mutation (Cecr2Del), we demonstrate a clear difference in the severity of the phenotype depending on the mutation. Although neither strain shows detectable defects in folliculogenesis, both Cecr2GT/GT and Cecr2GT/Del dams show defects in pregnancy. Cecr2GT/GT females have a normal number of implantation sites at embryonic day 5.5 (E5.5), but significant embryo loss by E10.5 accompanied by the presence of vaginal blood. Cecr2GT/Del females show a more severe phenotype, with significantly fewer detectable implantation sites than wild type at E5.5. Some Cecr2GT/Del females also show premature loss of decidual tissue after artificial decidualization. Together, these results suggest a role for Cecr2 in the establishment of a successful pregnancy.
MeSH term(s)	Animals ; Embryo Implantation/genetics ; Embryo Loss/genetics ; Embryo, Mammalian ; Female ; Infertility, Female/genetics ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Transgenic ; Mutation ; Pregnancy ; Transcription Factors/genetics ; Transcription Factors/physiology
Chemical Substances	CECR2 protein, mouse ; Transcription Factors
Language	English
Publishing date	2020-11-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	1118-6
ISSN	1529-7268 ; 0006-3363
ISSN (online)	1529-7268
ISSN	0006-3363
DOI	10.1093/biolre/ioaa231
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Article ; Online: Cecr2 mutant mice as a model for human cat eye syndrome

Renée Dicipulo / Kacie A. Norton / Nicholas A. Fairbridge / Yana Kibalnyk / Sabrina C. Fox / Lisa K. Hornberger / Heather E. McDermid

Scientific Reports, Vol 11, Iss 1, Pp 1-

2021 Volume 15

Abstract: Abstract Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have ... ...

Abstract	Abstract Cat eye syndrome (CES), a human genetic disorder caused by the inverted duplication of a region on chromosome 22, has been known since the late 1890s. Despite the significant impact this disorder has on affected individuals, models for CES have not been produced due to the difficulty of effectively duplicating the corresponding chromosome region in an animal model. However, the study of phenotypes associated with individual genes in this region such as CECR2 may shed light on the etiology of CES. In this study we have shown that deleterious loss of function mutations in mouse Cecr2 effectively demonstrate many of the abnormal features present in human patients with CES, including coloboma and specific skeletal, kidney and heart defects. Beyond phenotypic analyses we have demonstrated the importance of utilizing multiple genetic backgrounds to study disease models, as we see major differences in penetrance of Cecr2-related abnormal phenotype between mouse strains, reminiscent of the variability in the human syndrome. These findings suggest that Cecr2 is involved in the abnormal features of CES and that Cecr2 mice can be used as a model system to study the wide range of phenotypes present in CES.
Keywords	Medicine ; R ; Science ; Q
Subject code	616
Language	English
Publishing date	2021-02-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
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Article ; Online: Genetic backgrounds and modifier genes of NTD mouse models: An opportunity for greater understanding of the multifactorial etiology of neural tube defects.

Leduc, Renee Y M / Singh, Parmveer / McDermid, Heather E

Birth defects research

2016 Volume 109, Issue 2, Page(s) 140–152

Abstract: Neurulation, the early embryonic process of forming the presumptive brain and spinal cord, is highly complex and involves hundreds of genes in multiple genetic pathways. Mice have long served as a genetic model for studying human neurulation, and the ... ...

Abstract	Neurulation, the early embryonic process of forming the presumptive brain and spinal cord, is highly complex and involves hundreds of genes in multiple genetic pathways. Mice have long served as a genetic model for studying human neurulation, and the resulting neural tube defects (NTDs) that arise when neurulation is disrupted. Because mice appear to show mostly single gene inheritance for NTDs and humans show multifactorial inheritance, mice sometimes have been characterized as a simpler model for the identification and study of NTD genes. But are they a simple model? When viewed on different genetic backgrounds, many genes show significant variation in the penetrance and expressivity of NTD phenotypes, suggesting the presence of modifier loci that interact with the target gene to affect the phenotypic expression. Looking at mutations on different genetic backgrounds provides us with an opportunity to explore these complex genetic interactions, which are likely to better emulate similar processes in human neurulation. Here, we review NTD genes known to show strain-specific phenotypic variation. We focus particularly on the gene Cecr2, which is studied using both a hypomorphic and a presumptive null mutation on two different backgrounds: one susceptible (BALB/c) and one resistant (FVB/N) to NTDs. This strain difference has led to a search for genetic modifiers within a region on murine chromosome 19. Understanding how genetic variants alter the phenotypic outcome in NTD mouse models will help to direct future studies in humans, particularly now that more genome wide sequencing approaches are being used. Birth Defects Research 109:140-152, 2017. © 2016 Wiley Periodicals, Inc.
MeSH term(s)	Animals ; Chromosomes, Mammalian/chemistry ; Chromosomes, Mammalian/metabolism ; Disease Models, Animal ; Epistasis, Genetic ; Gene Expression Regulation, Developmental ; Genes, Modifier ; Genetic Background ; Humans ; Mice ; Mice, Inbred BALB C ; Mice, Knockout ; Mutation ; Neural Tube/abnormalities ; Neural Tube/growth & development ; Neural Tube/metabolism ; Neural Tube Defects/genetics ; Neural Tube Defects/metabolism ; Neural Tube Defects/pathology ; Neurulation/genetics ; Penetrance ; Phenotype ; Transcription Factors/deficiency ; Transcription Factors/genetics
Chemical Substances	CECR2 protein, mouse ; Transcription Factors
Language	English
Publishing date	2016-10-03
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ISSN	2472-1727
ISSN (online)	2472-1727
DOI	10.1002/bdra.23554
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Article: What Goes Around Can Come Around: An Unexpected Deleterious Effect of Using Mouse Running Wheels for Environmental Enrichment.

Leduc, Renee Y M / Rauw, Gail / Baker, Glen B / McDermid, Heather E

Journal of the American Association for Laboratory Animal Science : JAALAS

2017 Volume 56, Issue 2, Page(s) 194–201

Abstract: Environmental enrichment items such as running wheels can promote the wellbeing of laboratory mice. Growing evidence suggests that wheel running simulates exercise effects in many mouse models of human conditions, but this activity also might change ... ...

Abstract	Environmental enrichment items such as running wheels can promote the wellbeing of laboratory mice. Growing evidence suggests that wheel running simulates exercise effects in many mouse models of human conditions, but this activity also might change other aspects of mouse behavior. In this case study, we show that the presence of running wheels leads to pronounced and permanent circling behavior with route-tracing in a proportion of the male mice of a genetically distinct cohort. The genetic background of this cohort includes a mutation in Arhgap19, but genetic crosses showed that an unknown second-site mutation likely caused the induced circling behavior. Behavioral tests for inner-ear function indicated a normal sense of gravity in the circling mice. However, the levels of dopamine, serotonin, and some dopamine metabolites were lower in the brains of circling male mice than in mice of the same genetic background that were weaned without wheels. Circling was seen in both singly and socially housed male mice. The additional stress of fighting may have exacerbated the predisposition to circling in the socially housed animals. Singly and socially housed male mice without wheels did not circle. Our current findings highlight the importance and possibly confounding nature of the environmental and genetic background in mouse behavioral studies, given that the circling behavior and alterations in dopamine and serotonin levels in this mouse cohort occurred only when the male mice were housed with running wheels.
MeSH term(s)	Animals ; Behavior, Animal ; Brain/metabolism ; Crosses, Genetic ; Environment ; Genotype ; Housing, Animal ; Male ; Mice ; Motor Activity/physiology ; Mutation ; Running
Language	English
Publishing date	2017-03-01
Publishing country	United States
Document type	Journal Article
ISSN	1559-6109
ISSN	1559-6109
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Article ; Online: Comparability of the WCST and WCST-64 in the assessment of first-episode psychosis.

Gardizi, Elmar / King, Jelena P / McNeely, Heather E / Vaz, Stephanie McDermid

Psychological assessment

2018 Volume 31, Issue 2, Page(s) 271–276

Abstract: The Wisconsin Card Sorting Test (WCST) was designed as a measure of executive functioning and is commonly used in the assessment of psychiatric disorders. The original WCST, consisting of 128 cards, has been criticized as being too lengthy for patients ... ...

Abstract	The Wisconsin Card Sorting Test (WCST) was designed as a measure of executive functioning and is commonly used in the assessment of psychiatric disorders. The original WCST, consisting of 128 cards, has been criticized as being too lengthy for patients experiencing significant distress. Consequently, a shortened version consisting of a single 64-card deck (WCST-64) was created. The purpose of this study was to examine the comparability of the WCST and WCST-64 in 99 patients with first-episode psychosis. Findings showed the WCST-64 yielded a mean
MeSH term(s)	Adolescent ; Adult ; Executive Function/physiology ; Female ; Humans ; Male ; Neuropsychological Tests ; Psychotic Disorders/diagnosis ; Psychotic Disorders/psychology ; Reproducibility of Results ; Wisconsin Card Sorting Test/statistics & numerical data ; Young Adult
Language	English
Publishing date	2018-11-26
Publishing country	United States
Document type	Comparative Study ; Journal Article
ZDB-ID	1000939-5
ISSN	1939-134X ; 1040-3590
ISSN (online)	1939-134X
ISSN	1040-3590
DOI	10.1037/pas0000670
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