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Journal articles on the topic 'CNTNAP2 gene'

Author: Grafiati

Published: 18 May 2024

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1

Varea, Olga, Maria Dolores Martin-de-Saavedra, Katherine J. Kopeikina, Britta Schürmann, Hunter J. Fleming, Jessica M. Fawcett-Patel, Anthony Bach, et al. "Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons." Proceedings of the National Academy of Sciences 112, no. 19 (April 27, 2015): 6176–81. http://dx.doi.org/10.1073/pnas.1423205112.

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Central glutamatergic synapses and the molecular pathways that control them are emerging as common substrates in the pathogenesis of mental disorders. Genetic variation in the contactin associated protein-like 2 (CNTNAP2) gene, including copy number variations, exon deletions, truncations, single nucleotide variants, and polymorphisms have been associated with intellectual disability, epilepsy, schizophrenia, language disorders, and autism. CNTNAP2, encoded by Cntnap2, is required for dendritic spine development and its absence causes disease-related phenotypes in mice. However, the mechanisms whereby CNTNAP2 regulates glutamatergic synapses are not known, and cellular phenotypes have not been investigated in Cntnap2 knockout neurons. Here we show that CNTNAP2 is present in dendritic spines, as well as axons and soma. Structured illumination superresolution microscopy reveals closer proximity to excitatory, rather than inhibitory synaptic markers. CNTNAP2 does not promote the formation of synapses and cultured neurons from Cntnap2 knockout mice do not show early defects in axon and dendrite outgrowth, suggesting that CNTNAP2 is not required at this stage. However, mature neurons from knockout mice show reduced spine density and levels of GluA1 subunits of AMPA receptors in spines. Unexpectedly, knockout neurons show large cytoplasmic aggregates of GluA1. Here we characterize, for the first time to our knowledge, synaptic phenotypes in Cntnap2 knockout neurons and reveal a novel role for CNTNAP2 in GluA1 trafficking. Taken together, our findings provide insight into the biological roles of CNTNAP2 and into the pathogenesis of CNTNAP2-associated neuropsychiatric disorders.

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Papale, Ligia A., Andy Madrid, Qi Zhang, Kailei Chen, Lara Sak, Sündüz Keleş, and Reid S. Alisch. "Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders." Genome Research 32, no. 2 (December 23, 2021): 266–79. http://dx.doi.org/10.1101/gr.276137.121.

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Mouse knockouts of Cntnap2 show altered neurodevelopmental behavior, deficits in striatal GABAergic signaling, and a genome-wide disruption of an environmentally sensitive DNA methylation modification (5-hydroxymethylcytosine [5hmC]) in the orthologs of a significant number of genes implicated in human neurodevelopmental disorders. We tested adult Cntnap2 heterozygous mice (Cntnap2+/−; lacking behavioral or neuropathological abnormalities) subjected to a prenatal stress and found that prenatally stressed Cntnap2+/− female mice show repetitive behaviors and altered sociability, similar to the homozygote phenotype. Genomic profiling revealed disruptions in hippocampal and striatal 5hmC levels that are correlated to altered transcript levels of genes linked to these phenotypes (e.g., Reln, Dst, Trio, and Epha5). Chromatin immunoprecipitation coupled with high-throughput sequencing and hippocampal nuclear lysate pull-down data indicated that 5hmC abundance alters the binding of the transcription factor CLOCK near the promoters of these genes (e.g., Palld, Gigyf1, and Fry), providing a mechanistic role for 5hmC in gene regulation. Together, these data support gene-by-environment hypotheses for the origins of mental illness and provide a means to identify the elusive factors contributing to complex human diseases.

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Memis, Idil, Rahul Mittal, Emily Furar, Isaiah White, Rebecca S. Eshraghi, Jeenu Mittal, and Adrien A. Eshraghi. "Altered Blood Brain Barrier Permeability and Oxidative Stress in Cntnap2 Knockout Rat Model." Journal of Clinical Medicine 11, no. 10 (May 11, 2022): 2725. http://dx.doi.org/10.3390/jcm11102725.

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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by three core symptoms, specifically impaired social behavior, stereotypic/repetitive behaviors, and sensory/communication deficits. Although the exact pathophysiology of ASD is still unknown, host genetics, oxidative stress, and compromised blood brain barrier (BBB) have been implicated in predisposition to ASD. With regards to genetics, mutations in the genes such as CNTNAP2 have been associated with increased susceptibility of developing ASD. Although some studies observed conflicting results suggesting no association of CNTNAP2 with ASD, other investigations correlated this gene with autism. In addition, CNTNAP2 mediated signaling is generally considered to play a role in neurological disorders due to its critical role in neurodevelopment, neurotransmission, and synaptic plasticity. In this investigation, we studied BBB integrity and oxidative stress in Cntnap2−/− rats. We observed that the BBB permeability was significantly increased in Cntnap2−/− rats compared to littermate wild-type (WT) animals as determined by FITC-dextran and Evans blue assay. High levels of thiobarbituric acid reactive substances and lower amounts of reduced glutathione were observed in brain homogenates of Cntnap2−/− rats, suggesting oxidative stress. Brain sections from Cntnap2−/− rats showed intense inducible nitric oxide synthase immunostaining, which was undetectable in WT animals. Quantification of nitric oxide in brain homogenates revealed significantly high levels in Cntnap2−/− rats compared to the control group. As increased permeability of the BBB and oxidative stress have been observed in ASD individuals, our results suggest that Cntnap2−/− rats have a high construct and face validity and can be explored to develop effective therapeutic modalities.

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Al-Murrani, Amel, Fern Ashton, Salim Aftimos, Alice M. George, and Donald R. Love. "Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay." Case Reports in Genetics 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/172408.

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Thecontactin-associated protein-like 2(CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb deletion within theCNTNAP2gene that is maternally inherited in two male siblings, but with a variable clinical phenotype. This variability is described in the context of a limited number of other cases reported in the literature. The in-frame intragenic deletion removes a critical domain of the CNTNAP2 protein, and this case also highlights the challenges of correlating genotype and phenotype.

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Fang, Fang, Minxia Ge, Jun Liu, Zengyu Zhang, Hong Yu, Shuilong Zhu, Liwei Xu, and Lina Shao. "Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder." Behavioural Neurology 2021 (June 28, 2021): 1–6. http://dx.doi.org/10.1155/2021/4150926.

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Objective. Genetic factors play an important role in the development of autism spectrum disorder (ASD). This case-control study was to determine the association between childhood ASD and single nucleotide polymorphisms (SNPs) rs3746599 in the DUSP15 gene, rs7794745 in the CNTNAP2 gene, and rs251379 in the PCDHA gene in a Chinese Han population. Methods. Genotypes of SNPs were examined in DNA extracted from blood cells from 201 children with ASD and 200 healthy controls. The Children Autism Rating Scale (CARS) was applied to evaluate the severity of the disease and language impairment. The relationship between SNPs and the risk of ASD or the severity of the disease was determined by logistic regression and one-way ANOVA. Results. The genotype G/G of rs3746599 in the DUSP15 gene was significantly associated with a decreased risk of ASD (odds ratio OR = 0.65 , 95% confidence interval (CI): 0.42-0.99, P = 0.0449 ). The T allele of rs7794745 in the CNTNAP2 gene was associated with an increased risk of ASD ( OR = 1.34 , 95% CI: 1.01-1.77, P = 0.0435 ). The SNP rs251379 was not associated with ASD. Though none of the SNPs examined were associated with ASD severity, rs7794745 was associated with severity of language impairment. Conclusions. Our findings suggest that both rs3746599 in the DUSP15 gene and rs7794745 in the CNTNAP2 gene are associated with risk of childhood ASD, and rs7794745 is also related to the severity of language impairment in autistic children from a Chinese Han population.

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Bartolome, Ruby, Tomoko Kaneko-Tarui, Jill Maron, and Emily Zimmerman. "The Utility of Speech-Language Biomarkers to Predict Oral Feeding Outcomes in the Premature Newborn." American Journal of Speech-Language Pathology 29, no. 2S (July 10, 2020): 1022–29. http://dx.doi.org/10.1044/2019_ajslp-csw18-19-0027.

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Purpose Successful oral feeding and speech emergence are dependent upon the coordination of shared oral muscles and facial nerves. We aimed to determine if the speech-associated genes, forkhead box P2 (FOXP2) , contactin-associated protein-like 2 (CNTNAP2 ), glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A) , and neurexin 1, were detectable in neonatal saliva and could predict feeding outcomes in premature newborns. Method In this prospective, observational, preliminary study, saliva collected from 51 premature infants (gestational ages: 30–34 6/7 weeks) at different stages of oral feeding development underwent gene expression analysis. Binary (+/–) expression profiles were explored and examined in relation to days to achieve full oral feeds. Results GRIN2A and neurexin 1 rarely amplified in neonatal saliva and were not informative. Infants who amplified FOXP2 but not CNTNAP2 at the start of oral feeds achieved oral feeding success 3.20 (95% CI [−2.5, 8.9]) days sooner than other gene combinations. Conclusions FOXP2 and CNTNAP2 may be informative in predicting oral feeding outcomes in newborns. Salivary analysis at the start of oral feeding trials may inform feeding outcomes in this population and warrants further investigation.

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Ranieri, Annaluisa, Iolanda Veneruso, Ilaria La Monica, Maria Grazia Pascale, Lucio Pastore, Valeria D’Argenio, and Barbara Lombardo. "Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report." Medicina 58, no. 4 (April 7, 2022): 522. http://dx.doi.org/10.3390/medicina58040522.

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Background and Objectives: The development and standardization of genome-wide technologies able to carry out high-resolution, genomic analyses in a cost- and time-affordable way is increasing our knowledge regarding the molecular bases of complex diseases like autism spectrum disorder (ASD). ASD is a group of heterogeneous diseases with multifactorial origins. Genetic factors seem to be involved, albeit they remain still largely unknown. Here, we report the case of a child with a clinical suspicion of ASD investigated by using such a genomic high-resolution approach. Materials and Methods: Both array comparative genomic hybridization (aCGH) and exome sequencing were carried out on the family trio. aCGH was performed using the 4 × 180 K SurePrint G3 Human CGH Microarray, while the Human All Exon V7 targeted SureSelect XT HS panel was used for exome sequencing. Results: aCGH identified a paternally inherited duplication of chromosome 7 involving the CNTNAP2 gene, while 5 potentially clinically-relevant variants were identified by exome sequencing. Conclusions: Within the identified genomic alterations, the CNTNAP2 gene duplication may be related to the patient’s phenotype. Indeed, this gene has already been associated with brain development and cognitive functions, including language. The paternal origin of the alteration cannot exclude an incomplete penetrance. Moreover, other genomic factors may act as phenotype modifiers combined with CNTNAP2 gene duplication. Thus, the case reported herein strongly reinforces the need to use extensive genomic analyses to shed light on the bases of complex diseases.

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Folia, Vasiliki, Christian Forkstam, Martin Ingvar, and Karl Magnus Petersson. "Implicit Artificial Syntax Processing: Genes, Preference, and Bounded Recursion." Biolinguistics 5, no. 1-2 (June 27, 2011): 105–32. http://dx.doi.org/10.5964/bioling.8835.

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The first objective of this study was to compare the brain network engaged by preference classification and the standard grammaticality classification after implicit artificial syntax acquisition by re-analyzing previously reported event-related fMRI data. The results show that preference and grammaticality classification engage virtually identical brain networks, including Broca’s region, consistent with previous behavioral findings. Moreover, the results showed that the effects related to artificial syntax in Broca’s region were essentially the same when masked with variability related to natural syntax processing in the same participants. The second objective was to explore CNTNAP2-related effects in implicit artificial syntax learning by analyzing behavioral and event-related fMRI data from a subsample. The CNTNAP2 gene has been linked to specific language impairment and is con-trolled by the FOXP2 transcription factor. CNTNAP2 is expressed in language related brain networks in the developing human brain and the FOXP2–CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language. Finally, we discuss the implication of taking natural language to be a neurobiological system in terms of bounded recursion and suggest that the left inferior frontal region is a generic on-line sequence processor that unifies information from various sources in an incremental and recursive manner.

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Mittal, Rea, Ashutosh Kumar, Roger Ladda, Gayatra Mainali, and Ermal Aliu. "Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings." Child Neurology Open 8 (January 2021): 2329048X2110553. http://dx.doi.org/10.1177/2329048x211055330.

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Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660Ffsx9 frameshift variant have not been published previously. In this case report, the proband is a seven year old female with PTHLS1, developmental delay, autism spectrum disorder, focal epilepsy, hypotonia, refractory errors, strabismus, and obstructive sleep apnea. Whole exome sequencing analysis revealed biallelic pathogenic variants of the CNTNAP2 gene. Proband has a three year old sister who has who has a similar phenotype including, developmental delay, epilepsy, gait abnormality, refractory errors, strabismus. Family variants were tested and she shared the same CNTNAP2 variants as her sister. The sisters described highlight two novel variants leading to PTHLS1. Genetic workup is essential in identification and management guidance in these populations.

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Das, Arundhuti, Luca Pagliaroli, Andrea Vereczkei, Eszter Kotyuk, Banrida Langstieh, Zsolt Demetrovics, and Csaba Barta. "Association of GDNF and CNTNAP2 gene variants with gambling." Journal of Behavioral Addictions 8, no. 3 (September 1, 2019): 471–78. http://dx.doi.org/10.1556/2006.8.2019.40.

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11

Fernandes, Dominique, Sandra D. Santos, Ester Coutinho, Jessica L. Whitt, Nuno Beltrão, Tiago Rondão, M. Isabel Leite, Camilla Buckley, Hey-Kyoung Lee, and Ana Luísa Carvalho. "Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2." Cerebral Cortex 29, no. 12 (March 4, 2019): 4919–31. http://dx.doi.org/10.1093/cercor/bhz032.

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Abstract Neuropsychiatric disorders share susceptibility genes, suggesting a common origin. One such gene is CNTNAP2 encoding contactin-associated protein 2 (CASPR2), which harbours mutations associated to autism, schizophrenia, and intellectual disability. Antibodies targeting CASPR2 have also been recently described in patients with several neurological disorders, such as neuromyotonia, Morvan’s syndrome, and limbic encephalitis. Despite the clear implication of CNTNAP2 and CASPR2 in neuropsychiatric disorders, the pathogenic mechanisms associated with alterations in CASPR2 function are unknown. Here, we show that Caspr2 is expressed in excitatory synapses in the cortex, and that silencing its expression in vitro or in vivo decreases the synaptic expression of α-amino-3-hydroxy-5-methylisoxazole-4-propionic acid (AMPA) receptors and the amplitude of AMPA receptor-mediated currents. Furthermore, Caspr2 loss of function blocks synaptic scaling in vitro and experience-dependent homoeostatic synaptic plasticity in the visual cortex. Patient CASPR2 antibodies decrease the dendritic levels of Caspr2 and synaptic AMPA receptor trafficking, and perturb excitatory transmission in the visual cortex. These results suggest that mutations in CNTNAP2 may contribute to alterations in AMPA receptor function and homoeostatic plasticity, and indicate that antibodies from anti-CASPR2 encephalitis patients affect cortical excitatory transmission.

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12

Friedman, J. I., T. Vrijenhoek, S. Markx, I. M. Janssen, W. A. van der Vliet, B. H. W. Faas, N. V. Knoers, et al. "CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy." Molecular Psychiatry 13, no. 3 (July 24, 2007): 261–66. http://dx.doi.org/10.1038/sj.mp.4002049.

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13

Alarcón, Maricela, Brett S. Abrahams, Jennifer L. Stone, Jacqueline A. Duvall, Julia V. Perederiy, Jamee M. Bomar, Jonathan Sebat, et al. "Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene." American Journal of Human Genetics 82, no. 1 (January 2008): 150–59. http://dx.doi.org/10.1016/j.ajhg.2007.09.005.

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Siddiqua, Hafsa, Yasmin Akter, Md Arju Mia, Mst Sharika Ahmed, Mahmood Ahmed Chowdhury, and Lolo Wal Marzan. "A case-control study along with an epidemiological approach to CNTNAP2 polymorphism among Bangladeshi ASD children." Asian Journal of Medical and Biological Research 8, no. 2 (June 26, 2022): 79–93. http://dx.doi.org/10.3329/ajmbr.v8i2.59511.

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ASD (Autism Spectrum Disorder) is a neuropsychiatric disorder with a hereditary component, and its prevalence in South Asia was assessed 1, out of every 93 children. Moreover, recent studies suggested that the etiology of autism is thought to be linked to anomalies in the synapse, where mutation or deletion of synaptic gene CNTNAP2 is responsible. Therefore, this research was aimed to find out specific signs and symptoms of ASD individuals as well as the distribution pattern of the CNTNAP2 allelic variant (rs7794745) as a genetic risk factor in the Bangladeshi population. A case-control study including an epidemiological survey to investigate the association and pathophysiology of CNTNAP2 (rs7794745) with ASD for the Bangladeshi population has been studied, where PCR-RFLP analysis and Sanger sequencing were used for 180 individuals (90 ASD samples and 90 healthy controls). Our retrieved data speculated a diverse clinical profile of ASD, in comparison to the control group (n=110); where 80.9% (p ≤0.001) of ASD patients (n =100) had severe social interaction difficulties, 50% (p ≤0.001) had language impairments, and 40.9% (p ≤0.001) had behavioral abnormalities. Furthermore, findings from Pearson’s chi-square test (p = 0.001) as well as logistic regression analysis of co-dominant (p = 0.0083), and recessive model (p = 0.0075) confirmed significant association between rs7794745 and in our studied sample. This research demonstrates the genetic variation of CNTNAP2 found in our studied population could open a new clue to identifying a reliable biomarker for early diagnosis of ASD though it is recommended that more study is needed with a larger group population. Asian J. Med. Biol. Res. 2022, 8 (2), 79-93

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Gandhi, Tanya, Cade R. Canepa, Tolulope T. Adeyelu, Philip A. Adeniyi, and Charles C. Lee. "Neuroanatomical Alterations in the CNTNAP2 Mouse Model of Autism Spectrum Disorder." Brain Sciences 13, no. 6 (May 31, 2023): 891. http://dx.doi.org/10.3390/brainsci13060891.

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Autism spectrum disorder (ASD) is associated with neurodevelopmental alterations, including atypical forebrain cellular organization. Mutations in several ASD-related genes often result in cerebral cortical anomalies, such as the abnormal developmental migration of excitatory pyramidal cells and the malformation of inhibitory neuronal circuitry. Notably here, mutations in the CNTNAP2 gene result in ectopic superficial cortical neurons stalled in lower cortical layers and alterations to the balance of cortical excitation and inhibition. However, the broader circuit-level implications of these findings have not been previously investigated. Therefore, we assessed whether ectopic cortical neurons in CNTNAP2 mutant mice form aberrant connections with higher-order thalamic nuclei, potentially accounting for some autistic behaviors, such as repetitive and hyperactive behaviors. Furthermore, we assessed whether the development of parvalbumin-positive (PV) cortical interneurons and their specialized matrix support structures, called perineuronal nets (PNNs), were altered in these mutant mice. We found alterations in both ectopic neuronal connectivity and in the development of PNNs, PV neurons and PNNs enwrapping PV neurons in various sensory cortical regions and at different postnatal ages in the CNTNAP2 mutant mice, which likely lead to some of the cortical excitation/inhibition (E/I) imbalance associated with ASD. These findings suggest neuroanatomical alterations in cortical regions that underlie the emergence of ASD-related behaviors in this mouse model of the disorder.

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Friedman, J. I., T. Vrijenhoek, S. Markx, I. M. Janssen, W. A. van der Vliet, B. H. W. Faas, N. V. Knoers, et al. "Erratum: CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy." Molecular Psychiatry 15, no. 11 (April 20, 2010): 1121. http://dx.doi.org/10.1038/mp.2010.20.

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Zare, Sahar, Farhad Mashayekhi, and Elham Bidabadi. "The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population." Journal of Clinical Neuroscience 39 (May 2017): 189–92. http://dx.doi.org/10.1016/j.jocn.2017.01.008.

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Karaca, Irmak, Suzan Guven Yilmaz, Melis Palamar, Huseyin Onay, Bilcag Akgun, Burcu Aytacoglu, Ayca Aykut, and Feristah Ferda Ozkinay. "Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome." International Ophthalmology 39, no. 1 (December 19, 2017): 167–73. http://dx.doi.org/10.1007/s10792-017-0800-3.

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Dennis, Emily L., Neda Jahanshad, Jeffrey D. Rudie, Jesse A. Brown, Kori Johnson, Katie L. McMahon, Greig I. de Zubicaray, et al. "Altered Structural Brain Connectivity in Healthy Carriers of the Autism Risk Gene,CNTNAP2." Brain Connectivity 1, no. 6 (December 2011): 447–59. http://dx.doi.org/10.1089/brain.2011.0064.

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Jurgensen, S., and P. E. Castillo. "Selective Dysregulation of Hippocampal Inhibition in the Mouse Lacking Autism Candidate Gene CNTNAP2." Journal of Neuroscience 35, no. 43 (October 28, 2015): 14681–87. http://dx.doi.org/10.1523/jneurosci.1666-15.2015.

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Valeeva, Elena V., Ilnur S. Sabirov, Liliya R. Safiullina, Dmitriy O. Nikitin, Irina I. Semina, Tim Rees, Denis O. Fesenko, and Ildus I. Ahmetov. "The role of the CNTNAP2 gene in the development of autism spectrum disorder." Research in Autism Spectrum Disorders 114 (June 2024): 102409. http://dx.doi.org/10.1016/j.rasd.2024.102409.

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Hoffman, Ellen J., Katherine J. Turner, Joseph M. Fernandez, Daniel Cifuentes, Marcus Ghosh, Sundas Ijaz, Roshan A. Jain, et al. "Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2." Neuron 89, no. 4 (February 2016): 725–33. http://dx.doi.org/10.1016/j.neuron.2015.12.039.

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Shimoda, Yasushi, Hidehiro Ueda, and Kazutada Watanabe. "Involvement of Caspr2 encoded by neuropsychiatric developmental disorder-susceptibility gene CNTNAP2 in the synaptogenesis." Neuroscience Research 65 (January 2009): S99. http://dx.doi.org/10.1016/j.neures.2009.09.427.

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Bocharova, Anna, Kseniya Vagaitseva, Andrey Marusin, Natalia Zhukova, Irina Zhukova, Larisa Minaycheva, Oksana Makeeva, and Vadim Stepanov. "Association and Gene–Gene Interactions Study of Late-Onset Alzheimer’s Disease in the Russian Population." Genes 12, no. 10 (October 19, 2021): 1647. http://dx.doi.org/10.3390/genes12101647.

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Alzheimer’s disease (AD) is a neurodegenerative disorder, and represents the most common cause of dementia. In this study, we performed several different analyses to detect loci involved in development of the late onset AD in the Russian population. DNA samples from 472 unrelated subjects were genotyped for 63 SNPs using iPLEX Assay and real-time PCR. We identified five genetic loci that were significantly associated with LOAD risk for the Russian population (TOMM40 rs2075650, APOE rs429358 and rs769449, NECTIN rs6857, APOE ε4). The results of the analysis based on comparison of the haplotype frequencies showed two risk haplotypes and one protective haplotype. The GMDR analysis demonstrated three significant models as a result: a one-factor, a two-factor and a three-factor model. A protein–protein interaction network with three subnetworks was formed for the 24 proteins. Eight proteins with a large number of interactions are identified: APOE, SORL1, APOC1, CD33, CLU, TOMM40, CNTNAP2 and CACNA1C. The present study confirms the importance of the APOE-TOMM40 locus as the main risk locus of development and progress of LOAD in the Russian population. Association analysis and bioinformatics approaches detected interactions both at the association level of single SNPs and at the level of genes and proteins.

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Nakabayashi, Kazuhiko, and Stephen W. Scherer. "The Human Contactin-Associated Protein-like 2 Gene (CNTNAP2) Spans over 2 Mb of DNA at Chromosome 7q35." Genomics 73, no. 1 (April 2001): 108–12. http://dx.doi.org/10.1006/geno.2001.6517.

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Zhu, Bi, Chuansheng Chen, Gui Xue, Xuemei Lei, Yunxin Wang, Jin Li, Robert K. Moyzis, Jun Li, Qi Dong, and Chongde Lin. "Associations between the CNTNAP2 gene, dorsolateral prefrontal cortex, and cognitive performance on the Stroop task." Neuroscience 343 (February 2017): 21–29. http://dx.doi.org/10.1016/j.neuroscience.2016.11.021.

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Ross, Lars A., Victor A. Del Bene, Sophie Molholm, Young Jae Woo, Gizely N. Andrade, Brett S. Abrahams, and John J. Foxe. "Common variation in the autism risk gene CNTNAP2, brain structural connectivity and multisensory speech integration." Brain and Language 174 (November 2017): 50–60. http://dx.doi.org/10.1016/j.bandl.2017.07.005.

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Werling, Anna Maria, Elise Bobrowski, Regina Taurines, Ronnie Gundelfinger, Marcel Romanos, Edna Grünblatt, and Susanne Walitza. "CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches." Journal of Neural Transmission 123, no. 3 (November 11, 2015): 353–63. http://dx.doi.org/10.1007/s00702-015-1458-5.

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Gu, Huaiting, Fang Hou, Lingfei Liu, Xiu Luo, Pauline Denis Nkomola, Xinyan Xie, Xin Li, and Ranran Song. "Genetic variants in the CNTNAP2 gene are associated with gender differences among dyslexic children in China." EBioMedicine 34 (August 2018): 165–70. http://dx.doi.org/10.1016/j.ebiom.2018.07.007.

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Chien, Yi-Ling, Yu-Chieh Chen, and Susan Shur-Fen Gau. "Altered cingulate structures and the associations with social awareness deficits and CNTNAP2 gene in autism spectrum disorder." NeuroImage: Clinical 31 (2021): 102729. http://dx.doi.org/10.1016/j.nicl.2021.102729.

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Scott-Van Zeeland, A. A., B. S. Abrahams, A. I. Alvarez-Retuerto, L. I. Sonnenblick, J. D. Rudie, D. Ghahremani, J. A. Mumford, et al. "Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2." Science Translational Medicine 2, no. 56 (November 3, 2010): 56ra80. http://dx.doi.org/10.1126/scitranslmed.3001344.

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Liska, Adam, Alice Bertero, Ryszard Gomolka, Mara Sabbioni, Alberto Galbusera, Noemi Barsotti, Stefano Panzeri, Maria Luisa Scattoni, Massimo Pasqualetti, and Alessandro Gozzi. "Homozygous Loss of Autism-Risk Gene CNTNAP2 Results in Reduced Local and Long-Range Prefrontal Functional Connectivity." Cerebral Cortex 28, no. 4 (February 10, 2017): 1141–53. http://dx.doi.org/10.1093/cercor/bhx022.

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Bai, Tongjian, Long Zhang, Xiaohui Xie, Guixian Xiao, Wanling Huang, Dandan Li, Meidan Zu, et al. "Common variant of CNTNAP2 gene modulate the social performances and functional connectivity of posterior right temporoparietal junction." Social Cognitive and Affective Neuroscience 14, no. 12 (December 2019): 1297–305. http://dx.doi.org/10.1093/scan/nsaa008.

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Abstract Social deficits are features of autism and highly heritable traits. A common variant in autism-related CNTNAP2 gene, rs2710102, has been linked with social performance, but the neural substrates are largely unknown. We investigated variations in social performance and functional connectivity (static and dynamic) in the subregions of right temporoparietal junction (RTPJ), a key node of brain social network, using resting-state magnetic resonance imaging (n = 399) by genotype at rs2710102 in healthy volunteers. Social performance was evaluated using the social domain of the Autism-Spectrum Quotient (AQ-social; n = 641) and fixation time on eye areas during an eye-tracking task (n = 32). According to previous evidence that the A-allele is the risk allele for social dysfunction, we classified participants into GG and A-allele carriers (AA/AG) groups. The A-allele carriers showed poor social performance (high AQ-social and short fixation time on eye areas) compared with the GG carriers. In the A-allele carriers, decreased stationary functional connectivity between the orbitofrontal cortex and posterior RTPJ (pRTPJ), and decreased dynamic functional connectivity (dFC) between the medial prefrontal cortex (mPFC) and pRTPJ were observed. The fixation time at eye areas positively were correlated with the pRTPJ-mPFC dFC. These findings provided insight for genetic effect on social behavior and its potential neural substrate.

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Petrin, Aline L., Célia M. Giacheti, Luciana P. Maximino, Dagma V. M. Abramides, Sthella Zanchetta, Natalia F. Rossi, Antônio Richieri-Costa, and Jeffrey C. Murray. "Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case." American Journal of Medical Genetics Part A 152A, no. 12 (November 24, 2010): 3164–72. http://dx.doi.org/10.1002/ajmg.a.33749.

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Vorn, Rany, Katie A. Edwards, James Hentig, Sijung Yun, Hyung-Suk Kim, Chen Lai, Christina Devoto, et al. "A Pilot Study of Whole-Blood Transcriptomic Analysis to Identify Genes Associated with Repetitive Low-Level Blast Exposure in Career Breachers." Biomedicines 10, no. 3 (March 17, 2022): 690. http://dx.doi.org/10.3390/biomedicines10030690.

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Repetitive low-level blast exposure is one of the major occupational health concerns among US military service members and law enforcement. This study seeks to identify gene expression using microRNA and RNA sequencing in whole-blood samples from experienced breachers and unexposed controls. We performed experimental RNA sequencing using Illumina’s HiSeq 2500 Sequencing System, and microRNA analysis using NanoString Technology nCounter miRNA expression panel in whole-blood total RNA samples from 15 experienced breachers and 14 age-, sex-, and race-matched unexposed controls. We identified 10 significantly dysregulated genes between experienced breachers and unexposed controls, with FDR corrected <0.05: One upregulated gene, LINC00996 (long intergenic non-protein coding RNA 996); and nine downregulated genes, IGLV3-16 (immunoglobulin lambda variable 3-16), CD200 (CD200 molecule), LILRB5 (leukocyte immunoglobulin-like receptor B5), ZNF667-AS1 (ZNF667 antisense RNA 1), LMOD1 (leiomodin 1), CNTNAP2 (contactin-associated protein 2), EVPL (envoplakin), DPF3 (double PHD fingers 3), and IGHV4-34 (immunoglobulin heavy variable 4-34). The dysregulated gene expressions reported here have been associated with chronic inflammation and immune response, suggesting that these pathways may relate to the risk of lasting neurological symptoms following high exposures to blast over a career.

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Schaafsma, Sara M., Khatuna Gagnidze, Anny Reyes, Natalie Norstedt, Karl Månsson, Kerel Francis, and Donald W. Pfaff. "Sex-specific gene–environment interactions underlying ASD-like behaviors." Proceedings of the National Academy of Sciences 114, no. 6 (January 23, 2017): 1383–88. http://dx.doi.org/10.1073/pnas.1619312114.

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The male bias in the incidence of autism spectrum disorders (ASDs) is one of the most notable characteristics of this group of neurodevelopmental disorders. The etiology of this sex bias is far from known, but pivotal for understanding the etiology of ASDs in general. Here we investigate whether a “three-hit” (genetic load × environmental factor × sex) theory of autism may help explain the male predominance. We found that LPS-induced maternal immune activation caused male-specific deficits in certain social responses in the contactin-associated protein-like 2 (Cntnap2) mouse model for ASD. The three “hits” had cumulative effects on ultrasonic vocalizations at postnatal day 3. Hits synergistically affected social recognition in adulthood: only mice exposed to all three hits showed deficits in this aspect of social behavior. In brains of the same mice we found a significant three-way interaction on corticotropin-releasing hormone receptor-1 (Crhr1) gene expression, in the left hippocampus specifically, which co-occurred with epigenetic alterations in histone H3 N-terminal lysine 4 trimethylation (H3K4me3) over the Crhr1 promoter. Although it is highly likely that multiple (synergistic) interactions may be at work, change in the expression of genes in the hypothalamic–pituitary–adrenal/stress system (e.g., Crhr1) is one of them. The data provide proof-of-principle that genetic and environmental factors interact to cause sex-specific effects that may help explain the male bias in ASD incidence.

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Uddén, Julia, Tineke M. Snijders, Simon E. Fisher, and Peter Hagoort. "A common variant of the CNTNAP2 gene is associated with structural variation in the left superior occipital gyrus." Brain and Language 172 (September 2017): 16–21. http://dx.doi.org/10.1016/j.bandl.2016.02.003.

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Paduano, Francesco, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso, Antonio Novelli, Nicola Perrotti, and Rodolfo Iuliano. "7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability." Genes 11, no. 5 (May 8, 2020): 525. http://dx.doi.org/10.3390/genes11050525.

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Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dimorphisms as well as severe psychomotor delay and intellectual disability. Array-CGH analysis revealed a ~240 kb microdeletion at the 7q35 inherited from her father, a ∼538 kb microduplication at the 15q13.3 region and a ∼178 kb microduplication at Xp22.33 region, both transmitted from her mother. The microdeletion in 7q35 was included within an intragenic region of the contactin associated protein-like 2 (CNTNAP2) gene, whereas the microduplications at 15q13.3 and Xp22.33 involved the cholinergic receptor nicotinic α 7 subunit (CHRNA7) and the cytokine receptor-like factor 2 (CRLF2) genes, respectively. Here, we describe a female patient harbouring three CNVs whose additive contribution could be responsible for her clinical phenotypes.

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Brignoni, Lucía, Mónica Cappetta, Valentina Colistro, Mónica Sans, Nora Artagaveytia, Carolina Bonilla, and Bernardo Bertoni. "Genomic Diversity in Sporadic Breast Cancer in a Latin American Population." Genes 11, no. 11 (October 28, 2020): 1272. http://dx.doi.org/10.3390/genes11111272.

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Among Latin American women, breast cancer incidences vary across populations. Uruguay and Argentina have the highest rates in South America, which are mainly attributed to strong, genetic European contributions. Most genetic variants associated with breast cancer were described in European populations. However, the vast majority of genetic contributors to breast cancer risk remain unknown. Here, we report the results of a candidate gene association study of sporadic breast cancer in 176 cases and 183 controls in the Uruguayan population. We analyzed 141 variants from 98 loci that have been associated with overall breast cancer risk in European populations. We found weak evidence for the association of risk variants rs294174 (ESR1), rs16886165 (MAP3K1), rs2214681 (CNTNAP2), rs4237855 (VDR), rs9594579 (RANKL), rs8183919 (PTGIS), rs2981582 (FGFR2), and rs1799950 (BRCA1) with sporadic breast cancer. These results provide useful insight into the genetic susceptibility to sporadic breast cancer in the Uruguayan population and support the use of genetic risk scores for individualized screening and prevention.

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Hsu, Michelle, Mehek Dedhia, Wim E. Crusio, and Anna Delprato. "Sex differences in gene expression patterns associated with the APOE4 allele." F1000Research 8 (July 23, 2019): 387. http://dx.doi.org/10.12688/f1000research.18671.2.

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Background: The APOE gene encodes apolipoprotein ε (ApoE), a protein that associates with lipids to form lipoproteins that package and traffic cholesterol and lipids through the bloodstream. There are at least three different alleles of the APOE gene: APOE2, APOE3, and APOE4. The APOE4 allele increases an individual's risk for developing late-onset Alzheimer disease (AD) in a dose-dependent manner. Sex differences have been reported for AD susceptibility, age of onset, and symptom progression, with females being more affected than males. Methods: In this study, we use a systems biology approach to examine gene expression patterns in the brains of aged female and male individuals who are positive for the APOE4 allele in order to identify possible sex-related differences that may be relevant to AD. Results: Based on correlation analysis, we identified a large number of genes with an expression pattern similar to that of APOE in APOE4-positive individuals. The number of these genes was much higher in APOE4-positive females than in APOE4-positive males, who in turn had more of such genes than APOE4-negative control groups. Our findings also indicate a significant sex* genotype interaction for the CNTNAP2 gene, a member of the neurexin family and a significant interaction for brain area*sex* genotype for PSEN2, a risk factor gene for AD. Conclusions: Profiling of these genes using Gene Ontology (GO) term classification, pathway enrichment, and differential expression analysis supports the idea of a transcriptional role of APOE with respect to sex differences and AD.

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Toma, Claudio, Kerrie D. Pierce, Alex D. Shaw, Anna Heath, Philip B. Mitchell, Peter R. Schofield, and Janice M. Fullerton. "Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders." PLOS Genetics 14, no. 12 (December 26, 2018): e1007535. http://dx.doi.org/10.1371/journal.pgen.1007535.

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Belloso, Jose M., Iben Bache, Miriam Guitart, Maria Rosa Caballin, Christina Halgren, Maria Kirchhoff, Hans-Hilger Ropers, Niels Tommerup, and Zeynep Tümer. "Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome." European Journal of Human Genetics 15, no. 6 (March 28, 2007): 711–13. http://dx.doi.org/10.1038/sj.ejhg.5201824.

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Wittekind, Dirk Alexander, Markus Scholz, Jürgen Kratzsch, Markus Löffler, Katrin Horn, Holger Kirsten, Veronica Witte, Arno Villringer, and Michael Kluge. "Genome-wide association and transcriptome analysis suggests total serum ghrelin to be linked with GFRAL." European Journal of Endocrinology 184, no. 6 (June 1, 2021): 847–56. http://dx.doi.org/10.1530/eje-20-1220.

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Objective Ghrelin is an orexigenic peptide hormone involved in the regulation of energy homeostasis, food intake and glucose metabolism. Serum levels increase anticipating a meal and fall afterwards. Underlying genetic mechanisms of the ghrelin secretion are unknown. Methods Total serum ghrelin was measured in 1501 subjects selected from the population-based LIFE-ADULT-sample after an overnight fast. A genome-wide association study (GWAS) was performed. Gene-based expression association analyses (transcriptome-wide association study (TWAS)) are statistical tests associating genetically predicted expression to a certain trait and were done using MetaXcan. Results In the GWAS, three loci reached genome-wide significance: the WW-domain containing the oxidoreductase-gene (WWOX; P = 1.80E-10) on chromosome 16q23.3-24.1 (SNP: rs76823993); the contactin-associated protein-like 2 gene (CNTNAP2; P = 9.0E-9) on chromosome 7q35-q36 (SNP: rs192092592) and the ghrelin And obestatin prepropeptide gene (GHRL; P = 2.72E-8) on chromosome 3p25.3 (SNP: rs143729751). In the TWAS, the three genes where the expression was strongest associated with serum ghrelin levels was the ribosomal protein L36 (RPL36; P = 1.3E-06, FDR = 0.011, positively correlated), AP1B1 (P = 1.1E-5, FDR = 0.048, negatively correlated) and the GDNF family receptor alpha like (GFRAL), receptor of the anorexigenic growth differentiation factor-15 (GDF15), (P = 1.8E-05, FDR = 0.15, also negatively correlated). Conclusions The three genome-wide significant genetic loci from the GWA and the genes identified in the TWA are functionally plausible and should initiate further research.

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Li, Dandan, Long Zhang, Tongjian Bai, Wanling Huang, Gong-Jun Ji, Tingting Yang, Yifan Zhang, Yanghua Tian, Bensheng Qiu, and Kai Wang. "Common variants of the autism-associated CNTNAP2 gene contribute to the modulatory effect of social function mediated by temporal cortex." Behavioural Brain Research 409 (July 2021): 113319. http://dx.doi.org/10.1016/j.bbr.2021.113319.

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Ma, Yi-Nu, Ting-Yu Xie, and Xue-Yi Chen. "Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population." Journal of Ophthalmology 2019 (May 2, 2019): 1–8. http://dx.doi.org/10.1155/2019/9687823.

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Background. Our previous data suggested that three single-nucleotide polymorphisms (SNPs), rs1048661, rs3825942, and rs2165241, of the lysyl oxidase-like 1 gene (LOXL1) are significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG). The following study investigated other SNPs that potentially effect XFS/XFG. Methods. A total of 216 Uygur patients diagnosed with XFS/XFG, and 297 Uygur volunteers were admitted to the First Affiliated Hospital at Xinjiang Medical University between January 2015 and October 2017. Blood samples were collected by venipuncture. Alleles and genotypes of LOXL1, TBC1D21, ATXN2, APOE, CLU, AFAP1, TXNRD2, CACNA1A, ABCA1, GAS7, and CNTNAP2 were analyzed by direct sequencing. Results. The allele G of rs41435250 of LOXL1 was a risk allele for XFS/XFG (P<0.001), whereas the allele G of rs893818 of LOXL1 was a protective allele for XFS/XFG (P<0.001). After adjusting all data for age and gender, the following results were obtained: the frequency of genotype CC for rs7137828 of ATXN2 was significantly higher in XFS/XFG patients than in controls (P=0.027), while no significance was found with reference to the frequency of genotype TT. The frequency of genotype GG for rs893818 of LOXL1 (P<0.001) and the frequency of genotype AA were both significantly higher in XFS/XFG groups compared to the control group (P<0.001). In addition, the frequency of genotype TT for rs41435250 of LOXL1 was higher in XFS/XFG patients than in controls (P=0.003), while no significant difference was found with reference to the frequency of genotype GG after adjusting for age and gender. In addition, the haplotypes G-A/T-G/G-G for rs41435250 and rs893818 were significantly associated with XFS/G. Conclusions. With reference to LOXL1, the rs41435250 resulted as a risk factor and rs893818 as a protective factor for XFS/XFG in the Uygur populations. Meanwhile, the rs16958445 of TBC1D21 and the rs7137828 of ATXN2 have also shown to be associated with pathogenesis of XFS/XFG.

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Uddin, Mohammad Sarowar, Atkia Azima, Md Abdul Aziz, Tutun Das Aka, Sarah Jafrin, Md Shalahuddin Millat, Shafayet Ahmed Siddiqui, Md Giash Uddin, Md Saddam Hussain, and Mohammad Safiqul Islam. "CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case–control study combined with a meta-analysis." Human Cell 34, no. 5 (May 5, 2021): 1410–23. http://dx.doi.org/10.1007/s13577-021-00546-8.

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Kim, Sang Yoon, Seung Min Lee, Jonghoon Shin, Ji Eun Lee, and Su Jin Kim. "Two Cases of Ocular Manifestations in Patients with Microdeletion of the Chromosome 7 Long Arm." Journal of the Korean Ophthalmological Society 62, no. 7 (July 15, 2021): 1003–7. http://dx.doi.org/10.3341/jkos.2021.62.7.1003.

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Purpose: We report ocular manifestations in two patients with 7q microdeletion. Case summary: (Case 1) A 62-day-old male infant was admitted to the ophthalmology outpatient department for ocular examination after being diagnosed with microdeletion of chromosome seven (7q36.2q36.3 deletion) in DNA microarray comparative genomic hybridization (DNA microarray CGH) and fluorescence in situ hybridization (FISH) tests. Fundus examination showed optic disc hypoplasia in both eyes and retinopathy of prematurity, accompanied by retinal hemorrhage in his right eye. Around the age of 24 months, the patient was diagnosed with intermittent exotropia with anisometropia and was prescribed spectacles. (Case 2) A 3-year-old male infant was referred to the ophthalmology clinic to evaluate poor fixation, which was found during rehabilitation therapy for cerebral palsy and developmental delay. Fundus examination showed an increased cup/disc ratio bilaterally. A flash visual evoked potential test indicated a decrease in amplitude in his right eye. Intermittent exotropia of forty prism diopters was observed. DNA microarray CGH and FISH tests performed at another hospital revealed microdeletion of chromosome seven (7q35 microdeletion) and CNTNAP2 gene loss. Conclusions: When genetic anomalies associated with ocular development are identified, it is necessary to detect the ophthalmic abnormalities early and provide the appropriate treatment to allow for the development of normal visual function.

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Lewis-Smith, David, Donald Craig, and Rhys Thomas. "094 The adult phenotypes of paediatric-onset genetic epilepsies." Journal of Neurology, Neurosurgery & Psychiatry 90, no. 12 (November 14, 2019): A29.3—A29. http://dx.doi.org/10.1136/jnnp-2019-abn-2.97.

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Genetic discovery in epilepsies has focussed on cohorts of children who typically have severe and intractable seizures. Now that genetic testing for adults with epilepsy has entered routine clinical practice, we are able to learn about the developmental trajectory of these epilepsies.Undiagnosed patients with epilepsy and intellectual disability were offered gene panel testing in an NHS epilepsy clinic. We present the clinical features of eight adults found to carry variants in paediatric epilepsy genes during re-investigation. All are amongst the oldest cases described. In six cases (CHD2, CNTNAP2, KCN1A, KCNT1, SCN2A, SCN8A) the onset was typical of published cases and we describe the evolution of their syndromes into adulthood including EEG and imaging. In two (SMC1A, NEXMIF) the onset was significantly later than published cases and we hypothesise that the phenotypic spectrum is broader than first thought for these disorders.Rare variants in genes associated with developmental and epileptic encephalopathies occur in adults with epilepsy. Stratifying patients with regards to syndromic diagnosis will facilitate more precise personalised prognostication and ultimately molecularly stratified treatment strategies. To maximise this potential it will become more important over the coming years for adult neurologists to undertake and understand genetic testing and collaborate with longitudinal observational studies of cohorts defined by molecular features.

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Iakoubov, Leonid, Malgorzata Mossakowska, Malgorzata Szwed, and Monika Puzianowska-Kuznicka. "A Common Copy Number Variation Polymorphism in the CNTNAP2 Gene: Sexual Dimorphism in Association with Healthy Aging and Disease." Gerontology 61, no. 1 (August 18, 2014): 24–31. http://dx.doi.org/10.1159/000363320.

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Maccaroni, Klizia, Elisa Balzano, Federica Mirimao, Simona Giunta, and Franca Pelliccia. "Impaired Replication Timing Promotes Tissue-Specific Expression of Common Fragile Sites." Genes 11, no. 3 (March 19, 2020): 326. http://dx.doi.org/10.3390/genes11030326.

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Common fragile sites (CFSs) are particularly vulnerable regions of the genome that become visible as breaks, gaps, or constrictions on metaphase chromosomes when cells are under replicative stress. Impairment in DNA replication, late replication timing, enrichment of A/T nucleotides that tend to form secondary structures, the paucity of active or inducible replication origins, the generation of R-loops, and the collision between replication and transcription machineries on particularly long genes are some of the reported characteristics of CFSs that may contribute to their tissue-specific fragility. Here, we validated the induction of two CFSs previously found in the human fetal lung fibroblast line, Medical Research Council cell strain 5 (MRC-5), in another cell line derived from the same fetal tissue, Institute for Medical Research-90 cells (IMR-90). After induction of CFSs through aphidicolin, we confirmed the expression of the CFS 1p31.1 on chromosome 1 and CFS 3q13.3 on chromosome 3 in both fetal lines. Interestingly, these sites were found to not be fragile in lymphocytes, suggesting a role for epigenetic or transcriptional programs for this tissue specificity. Both these sites contained late-replicating genes NEGR1 (neuronal growth regulator 1) at 1p31.1 and LSAMP (limbic system-associated membrane protein) at 3q13.3, which are much longer, 0.880 and 1.4 Mb, respectively, than the average gene length. Given the established connection between long genes and CFS, we compiled information from the literature on all previously identified CFSs expressed in fibroblasts and lymphocytes in response to aphidicolin, including the size of the genes contained in each fragile region. Our comprehensive analysis confirmed that the genes found within CFSs are longer than the average human gene; interestingly, the two longest genes in the human genome are found within CFSs: Contactin Associated Protein 2 gene (CNTNAP2) in a lymphocytes’ CFS, and Duchenne muscular dystrophy gene (DMD) in a CFS expressed in both lymphocytes and fibroblasts. This indicates that the presence of very long genes is a unifying feature of all CFSs. We also obtained replication profiles of the 1p31.1 and 3q13.3 sites under both perturbed and unperturbed conditions using a combination of fluorescent in situ hybridization (FISH) and immunofluorescence against bromodeoxyuridine (BrdU) on interphase nuclei. Our analysis of the replication dynamics of these CFSs showed that, compared to lymphocytes where these regions are non-fragile, fibroblasts display incomplete replication of the fragile alleles, even in the absence of exogenous replication stress. Our data point to the existence of intrinsic features, in addition to the presence of long genes, which affect DNA replication of the CFSs in fibroblasts, thus promoting chromosomal instability in a tissue-specific manner.

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