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Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning / Thomas C. JARAMILLO in Autism Research, 7-2 (April 2014)
[article]
Titre : Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning Type de document : Texte imprimé et/ou numérique Auteurs : Thomas C. JARAMILLO, Auteur ; Shunan LIU, Auteur ; Ami PETTERSEN, Auteur ; Shari G. BIRNBAUM, Auteur ; Craig M. POWELL, Auteur Article en page(s) : p.264-272 Mots-clés : animal models behavioral analysis of animal models intellectual disability neuroligin autism Index. décimale : PER Périodiques Résumé : Multiple candidate genes have been identified for autism spectrum disorders. While some of these genes reach genome-wide significance, others, such as the R451C point mutation in the synaptic cell adhesion molecule neuroligin-3, appear to be rare. Interestingly, two brothers with the same R451C point mutation in neuroligin-3 present clinically on seemingly disparate sides of the autism spectrum. These clinical findings suggest genetic background may play a role in modifying the penetrance of a particular autism-associated mutation. Animal models may contribute additional support for such mutations as functionally relevant and can provide mechanistic insights. Previously, in collaboration with the Südhof laboratory, we reported that mice with an R451C substitution in neuroligin-3 displayed social deficits and enhanced spatial learning. While some of these behavioral abnormalities have since been replicated independently in the Südhof laboratory, observations from the Crawley laboratory failed to replicate these findings in a similar neuroligin-3 mutant mouse model and suggested that genetic background may contribute to variation in observations across laboratories. Therefore, we sought to replicate our findings in the neuroligin-3 R451C point mutant knock-in mouse model (NL3R451C) in a different genetic background. We backcrossed our NL3R451C mouse line onto a 129S2/SvPasCrl genetic background and repeated a subset of our previous behavioral testing. NL3R451C mice on a 129S2/SvPasCrl displayed social deficits, enhanced spatial learning, and increased locomotor activity. These data extend our previous findings that NL3R451C mice exhibit autism-relevant behavioral abnormalities and further suggest that different genetic backgrounds can modify this behavioral phenotype through epistatic genetic interactions. En ligne : http://dx.doi.org/10.1002/aur.1362 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230
in Autism Research > 7-2 (April 2014) . - p.264-272[article] Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning [Texte imprimé et/ou numérique] / Thomas C. JARAMILLO, Auteur ; Shunan LIU, Auteur ; Ami PETTERSEN, Auteur ; Shari G. BIRNBAUM, Auteur ; Craig M. POWELL, Auteur . - p.264-272.
in Autism Research > 7-2 (April 2014) . - p.264-272
Mots-clés : animal models behavioral analysis of animal models intellectual disability neuroligin autism Index. décimale : PER Périodiques Résumé : Multiple candidate genes have been identified for autism spectrum disorders. While some of these genes reach genome-wide significance, others, such as the R451C point mutation in the synaptic cell adhesion molecule neuroligin-3, appear to be rare. Interestingly, two brothers with the same R451C point mutation in neuroligin-3 present clinically on seemingly disparate sides of the autism spectrum. These clinical findings suggest genetic background may play a role in modifying the penetrance of a particular autism-associated mutation. Animal models may contribute additional support for such mutations as functionally relevant and can provide mechanistic insights. Previously, in collaboration with the Südhof laboratory, we reported that mice with an R451C substitution in neuroligin-3 displayed social deficits and enhanced spatial learning. While some of these behavioral abnormalities have since been replicated independently in the Südhof laboratory, observations from the Crawley laboratory failed to replicate these findings in a similar neuroligin-3 mutant mouse model and suggested that genetic background may contribute to variation in observations across laboratories. Therefore, we sought to replicate our findings in the neuroligin-3 R451C point mutant knock-in mouse model (NL3R451C) in a different genetic background. We backcrossed our NL3R451C mouse line onto a 129S2/SvPasCrl genetic background and repeated a subset of our previous behavioral testing. NL3R451C mice on a 129S2/SvPasCrl displayed social deficits, enhanced spatial learning, and increased locomotor activity. These data extend our previous findings that NL3R451C mice exhibit autism-relevant behavioral abnormalities and further suggest that different genetic backgrounds can modify this behavioral phenotype through epistatic genetic interactions. En ligne : http://dx.doi.org/10.1002/aur.1362 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 Male predominance in autism: neuroendocrine influences on arousal and social anxiety / Donald W. PFAFF in Autism Research, 4-3 (June 2011)
[article]
Titre : Male predominance in autism: neuroendocrine influences on arousal and social anxiety Type de document : Texte imprimé et/ou numérique Auteurs : Donald W. PFAFF, Auteur ; Isabelle RAPIN, Auteur ; Sylvie GOLDMAN, Auteur Année de publication : 2011 Article en page(s) : p.163-176 Langues : Anglais (eng) Mots-clés : behavioral analysis of animal models developmental neurobiology sex differences testosterone androgen receptor Index. décimale : PER Périodiques Résumé : We offer a neurobiologic theory based on animal work that helps account for the conspicuous male predominance in autism spectrum disorders (ASD). In young male animals, testosterone (TST) binds to androgen receptors (AR) in brainstem neurons responsible for enhancing brain arousal. As a consequence, arousal-related neurotransmitters bombard the amygdala hypersensitized by TST acting though AR. Arousal-related inputs are known to prime amygdaloid mechanisms for fear and anxiety, with resultant social avoidance. We hypothesize that similar mechanisms contribute to autism's male predominance and to its defining impaired social skills. The theory rests on two key interacting factors: the molecular effects of TST in genetically vulnerable boys in combination with environmental stresses they experienced in utero, neonatally, or during the first years. We postulate that higher TST levels and, therefore, higher amounts of arousal-related inputs to the amygdala sensitize these genetically vulnerable male infants to very early stresses. In sharp contrast to boys, girls not only do not have high levels of TST-facilitated arousal-causing inputs to the amygdala but they also enjoy the protection afforded by estrogenic hormones, oxytocin, and the oxytocin receptor. This theory suggests that novel technologies applied to the molecular endocrinology of TST's actions through AR will offer new avenues of enquiry into ASD. Since the high male preponderance in autism is important yet understudied, we offer our theory, which is based on detailed neurobehavioral research with animals, to stimulate basic and clinical research in animals and humans and hopefully help develop novel more effective medical treatments for autism. En ligne : http://dx.doi.org/10.1002/aur.191 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127
in Autism Research > 4-3 (June 2011) . - p.163-176[article] Male predominance in autism: neuroendocrine influences on arousal and social anxiety [Texte imprimé et/ou numérique] / Donald W. PFAFF, Auteur ; Isabelle RAPIN, Auteur ; Sylvie GOLDMAN, Auteur . - 2011 . - p.163-176.
Langues : Anglais (eng)
in Autism Research > 4-3 (June 2011) . - p.163-176
Mots-clés : behavioral analysis of animal models developmental neurobiology sex differences testosterone androgen receptor Index. décimale : PER Périodiques Résumé : We offer a neurobiologic theory based on animal work that helps account for the conspicuous male predominance in autism spectrum disorders (ASD). In young male animals, testosterone (TST) binds to androgen receptors (AR) in brainstem neurons responsible for enhancing brain arousal. As a consequence, arousal-related neurotransmitters bombard the amygdala hypersensitized by TST acting though AR. Arousal-related inputs are known to prime amygdaloid mechanisms for fear and anxiety, with resultant social avoidance. We hypothesize that similar mechanisms contribute to autism's male predominance and to its defining impaired social skills. The theory rests on two key interacting factors: the molecular effects of TST in genetically vulnerable boys in combination with environmental stresses they experienced in utero, neonatally, or during the first years. We postulate that higher TST levels and, therefore, higher amounts of arousal-related inputs to the amygdala sensitize these genetically vulnerable male infants to very early stresses. In sharp contrast to boys, girls not only do not have high levels of TST-facilitated arousal-causing inputs to the amygdala but they also enjoy the protection afforded by estrogenic hormones, oxytocin, and the oxytocin receptor. This theory suggests that novel technologies applied to the molecular endocrinology of TST's actions through AR will offer new avenues of enquiry into ASD. Since the high male preponderance in autism is important yet understudied, we offer our theory, which is based on detailed neurobehavioral research with animals, to stimulate basic and clinical research in animals and humans and hopefully help develop novel more effective medical treatments for autism. En ligne : http://dx.doi.org/10.1002/aur.191 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127 No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set / Kristina ALLEN-BRADY in Autism Research, 4-4 (August 2011)
[article]
Titre : No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set Type de document : Texte imprimé et/ou numérique Auteurs : Kristina ALLEN-BRADY, Auteur ; Guiqing CAI, Auteur ; Dale CANNON, Auteur ; Reid ROBISON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2011 Article en page(s) : p.293-296 Langues : Anglais (eng) Mots-clés : behavioral analysis of animal models developmental neurobiology sex differences testosterone androgen receptor Index. décimale : PER Périodiques Résumé : Finding predisposition genes for Autism Spectrum Disorder (ASD) has proven challenging, and new methods are needed to aid the process. Using pedigree structure as a strategy to identify ASD predisposition genes, we previously performed a genome-wide linkage scan of 86 selected families from the Autism Resource Exchange (AGRE) that appeared to inherit ASD in a dominant manner. We identified a suggestive linkage peak on chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene, a strong candidate gene for ASD. In this follow-up study, we sequenced the coding regions of the IL1RAPL1 gene in 14 male cases representing one case from each pedigree that showed at least nominal linkage evidence on per pedigree basis to the chromosome X region. We observed no deleterious mutations or deletions in the IL1RAPL1 gene in these 14 ASD cases. A SNP was identified in exon 2 in five cases and a variant of unknown significance was identified in intron 6 in a single case. In conclusion, coding changes of the IL1RAPL1 gene do not appear to be associated with ASD in selected AGRE families with linkage evidence to the chromosome Xp22.11-p21.2 region. En ligne : http://dx.doi.org/10.1002/aur.195 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141
in Autism Research > 4-4 (August 2011) . - p.293-296[article] No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set [Texte imprimé et/ou numérique] / Kristina ALLEN-BRADY, Auteur ; Guiqing CAI, Auteur ; Dale CANNON, Auteur ; Reid ROBISON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Joseph D. BUXBAUM, Auteur . - 2011 . - p.293-296.
Langues : Anglais (eng)
in Autism Research > 4-4 (August 2011) . - p.293-296
Mots-clés : behavioral analysis of animal models developmental neurobiology sex differences testosterone androgen receptor Index. décimale : PER Périodiques Résumé : Finding predisposition genes for Autism Spectrum Disorder (ASD) has proven challenging, and new methods are needed to aid the process. Using pedigree structure as a strategy to identify ASD predisposition genes, we previously performed a genome-wide linkage scan of 86 selected families from the Autism Resource Exchange (AGRE) that appeared to inherit ASD in a dominant manner. We identified a suggestive linkage peak on chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene, a strong candidate gene for ASD. In this follow-up study, we sequenced the coding regions of the IL1RAPL1 gene in 14 male cases representing one case from each pedigree that showed at least nominal linkage evidence on per pedigree basis to the chromosome X region. We observed no deleterious mutations or deletions in the IL1RAPL1 gene in these 14 ASD cases. A SNP was identified in exon 2 in five cases and a variant of unknown significance was identified in intron 6 in a single case. In conclusion, coding changes of the IL1RAPL1 gene do not appear to be associated with ASD in selected AGRE families with linkage evidence to the chromosome Xp22.11-p21.2 region. En ligne : http://dx.doi.org/10.1002/aur.195 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141 Delayed Reversal Learning and Association With Repetitive Behavior in Autism Spectrum Disorders / Mikle SOUTH in Autism Research, 5-6 (December 2012)
[article]
Titre : Delayed Reversal Learning and Association With Repetitive Behavior in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Mikle SOUTH, Auteur ; Tiffani NEWTON, Auteur ; Paul D. CHAMBERLAIN, Auteur Article en page(s) : p.398-406 Mots-clés : behavioral analysis of animal models animal models cognitive neuroscience psychopathology Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1255 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187
in Autism Research > 5-6 (December 2012) . - p.398-406[article] Delayed Reversal Learning and Association With Repetitive Behavior in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Mikle SOUTH, Auteur ; Tiffani NEWTON, Auteur ; Paul D. CHAMBERLAIN, Auteur . - p.398-406.
in Autism Research > 5-6 (December 2012) . - p.398-406
Mots-clés : behavioral analysis of animal models animal models cognitive neuroscience psychopathology Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1255 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187