Unexpected Innovative Early Diagnosis in Autism Spectrum Disorder: Premature Tooth Eruption in ADNP-Mutated Children
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE81268 | GEO | 2017/06/29
SECONDARY ACCESSION(S): PRJNA321152
REPOSITORIES: GEO
Similar Datasets
Project description:The dentition of elasmobranchs (sharks, skates and rays) is uniquely productive, capable of both rapid and continuous, lifelong regeneration. Elasmobranchs represent an important group of vertebrates with a deep evolutionary history, possessing several ancient and basal characters, i.e., the continuously regenerative dentition from a specialized dental lamina. The dental lamina is an expanded component of the oral epithelia that is responsible for initiating and producing new teeth among all toothed-vertebrates. In sharks, this dynamic epithelial unit is permanent and continuous – meaning it extends to cover the entirety of each jaw (jaw-wide) and develops early during embryogenesis and retained to produce teeth for the life of the shark. It is rare for a truly embryonic vertebrate tissue to be retained for its original function for the life of the organism. The dental lamina in sharks is unique and houses teeth in a developmental series from the deepest part, where teeth are initiated, through stages of tooth development in the form of a related, family of teeth to eruption and functionality of the advanced teeth at the jaw margin. How teeth are made and regenerated is an important question in vertebrate biology; here we investigated this question in the small spotted catshark (Scyliorhinus canicula), a new model in the field of developmental biology. Specifically, we divided the shark dental lamina into stage-compartments as follows: (i) the initiation site – the successional lamina (SL); (ii) the early developing teeth (ET); (iii) the late stage developing teeth (LT); (iv) the tooth-taste junction between the superficial oral and dental epithelium at the jaw margin that separates the taste territory and the dental lamina proper (TTJ); and basi-hyal oral epithelium that is strictly non-dental and only contains taste buds (BHTB). These 5 compartments each house both a shared and unique signature of gene transcripts. This study aims to understand the transcriptomic basis of continuous tooth regeneration in the shark. In this study we combine X-ray computed tomography, classic histology, insitu hybridization, immunohistochemistry, and functional assays of novel markers, and de novo and genome guided transcriptome assemblies for each of these 5 dental lamina compartments of the hatchling (stage 34) catshark (S. canicula).
2022-07-01 | GSE198580 | GEO
Project description:The aim of this study is to discover new genes and cells involved in life-long tooth replacement. Here we study the adult dentition of the leopard gecko (Eublepharis macularius). Bulk RNAseq was used to compare teeth that are in function versus unerupted, developing teeth and single cell RNA-seq was carried out on jaw segments containing the dental forming tissues. In bulk RNAseq data, we found that functional teeth expressed genes involved in bone and tooth resorption. Indeed, we found expression of these markers in multinucleated odontoclasts within resorbing functional teeth. Chemotaxis genes SEMA3A and SEMA3E, were expressed within odontoblasts and in adjacent mesenchyme using RNAscope. Semaphorins could be involved in regulating odontoclast formation, recruitment or repulsion from developing teeth. The scRNA-seq experiment successfully isolated dental mesenchyme and several epithelial clusters. We confirmed that some of these genes are expressed in the earliest tooth buds within the tooth forming field and in erupting teeth. This work will lead to discovery of genes and cell populations that may have been gained or lost during evolution of amniotes. Moreover, gene differences may lead to dental therapies to prevent tooth loss from disease or injury.
2022-12-24 | GSE220653 | GEO
Project description:The aim of this study is to discover new genes and cells involved in life-long tooth replacement. Here we study the adult dentition of the leopard gecko (Eublepharis macularius). Bulk RNAseq was used to compare teeth that are in function versus unerupted, developing teeth and single cell RNA-seq was carried out on jaw segments containing the dental forming tissues. In bulk RNAseq data, we found that functional teeth expressed genes involved in bone and tooth resorption. Indeed, we found expression of these markers in multinucleated odontoclasts within resorbing functional teeth. Chemotaxis genes SEMA3A and SEMA3E, were expressed within odontoblasts and in adjacent mesenchyme using RNAscope. Semaphorins could be involved in regulating odontoclast formation, recruitment or repulsion from developing teeth. The scRNA-seq experiment successfully isolated dental mesenchyme and several epithelial clusters. We confirmed that some of these genes are expressed in the earliest tooth buds within the tooth forming field and in erupting teeth. This work will lead to discovery of genes and cell populations that may have been gained or lost during evolution of amniotes. Moreover, gene differences may lead to dental therapies to prevent tooth loss from disease or injury.
2022-12-24 | GSE221110 | GEO
Project description:To identify genes heretofore undiscovered as critical players in the biogenesis of teeth, we have used microarray gene expression analysis of the developing mouse molar tooth (DMT) between 1 and 10 days postnatal to identify genes differentially expressed when compared to 16 control tissues (GEO accession # GSE1986). Of the top 100 genes exhibiting increased expression in the DMT, 29 were found to have been previously associated with tooth development. Differential expression of the remaining 71 genes not previously associated with tooth development was confirmed by qRT-PCR analysis. Further analysis of seven of the latter genes by mRNA in situ hybridization found that five were specific to the developing tooth in the craniofacial region (Rspo4, Papln, Amtn, Gja1, Maf). Of the remaining two, one was found to be more widely expressed (Sp7) and the other was found to be specific to the nasal serous gland, which is close to, but distinct from, the developing tooth (Vrm). Experiment Overall Design: mRNA from molar teeth extracted from Swiss Webster mouse pups between 1 and 10 days post-natal was pooled, labeled, and hybridized in quadruplicate to Affymetrix Mouse Genome Expression 430 2.0 microarrays. This data was compared to that of 16 control tissues (GEO accession # GSE1986) to identify genes differentially expressed in the DMT mRNA.
2008-06-15 | E-GEOD-7164 | biostudies-arrayexpress
Project description:The putative transcription factor, activity-dependent neuroprotective protein (ADNP) is a zinc finger and homeodomain - like profile containing protein. ADNP knockout mice die at day 9 of gestation. To reveal ADNP-associated pathways, a 22,690- Affymetrix probe array was used on ADNP knockout and control embryos. References:; Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. J Neurochem. 1999 Mar;72(3):1283-93. PMID: 10037502 [PubMed - indexed for MEDLINE]; Cloning and characterization of the human activity-dependent neuroprotective protein. J Biol Chem. 2001 Jan 5;276(1):708-14. PMID: 11013255 [PubMed - indexed for MEDLINE]; Activity-dependent neuroprotective protein: a novel gene essential for brain formation. Brain Res Dev Brain Res. 2003 Aug 12;144(1):83-90. PMID: 12888219 [PubMed - indexed for MEDLINE] Experiment Overall Design: To identify downstream target genes of ADNP, we examined global gene expression profiles of whole E9 knockout embryos (KO - ADNP -l-), their wild-type (WT - ADNP +l+ ) and their heterozygous (H - ADNP âl+ ) littermates, using the Affymetrix Murine Genome 430A oligonucleotide microarrays. Gestation day 9 was chosen as it is the period at which embryos lacking ADNP exhibit distinct morphological and developmental changes prior to degeneration and in uterus absorption. Total RNA was extracted from four ADNP knockout embryos, four normal embryos and six heterozygous embryos. A pool of two genotype identical littermates was used on seven different arrays (pooling of two embryos was necessary to obtain enough RNA on each of the gene microarrays).
2008-06-12 | E-GEOD-4068 | biostudies-arrayexpress
Project description:Evolutionary changes in vertebrates are linked to genetic alterations that often affect tooth-crown shape, which is a criterion of speciation events, especially in mammals. The Notch pathway is highly conserved between species and controls morphogenetic processes in most developing organs, including teeth. Epithelial loss of the Notch-ligand Jagged1 in developing mouse molars affects the location, size and interconnections of their cusps that lead to minor tooth-crown shape modifications convergent to those observed along Muridae evolution. RNA sequencing analysis revealed that these alterations are due to the modulation of more than 2000 genes and that Notch signaling is a hub for significant morphogenetic networks, such as Wnts and Fibroblast Growth Factors. The modeling of these tooth-crown changes in mutant mice, via a three-dimensional metamorphosis approach, allowed prediction of how Jagged1-associated mutations in humans could affect the morphology of their teeth. These results shed new light on Notch/Jagged1-mediated signaling as one of the crucial components for dental variations in evolution.
2023-03-17 | GSE198920 | GEO
Project description:The genetic mechanism governing the spatial patterning of teeth still remains to be elucidated. Sonic hedgehog (Shh) is one of key signaling molecules involved in the spatial patterning of teeth. By utilizing maternal transfer of 5E1 (an IgG1 monoclonal antibody against Shh protein) through the placenta to block Shh signaling, we investigated the changes in tooth patterning and in gene expression. We used microarrays to detect specific genes related with Shh signaling in tooth germs and identified some specific genes up- or down-regulated after blocking of Shh signaling activity.
2011-02-22 | GSE27429 | GEO
Project description:The genetic mechanism governing the spatial patterning of teeth still remains to be elucidated. Sonic hedgehog (Shh) is one of key signaling molecules involved in the spatial patterning of teeth. By utilizing maternal transfer of 5E1 (an IgG1 monoclonal antibody against Shh protein) through the placenta to block Shh signaling, we investigated the changes in tooth patterning and in gene expression. We used microarrays to detect specific genes related with Shh signaling in tooth germs and identified some specific genes up- or down-regulated after blocking of Shh signaling activity. Gene-chip expression analysis was performed with RNA from mandibular tooth germs from embryos of pregnant mice at one day after injection of 5E1 (an IgG1 monoclonal antibody against Shh protein; number of replicates =2), 40-1a (an IgG1 monoclonal antibody against β-galactosidase; number of replicates=2), cyclopamine (a specific Smo antagonist; number of replicates=2) or PBS (Phosphate buffered saline; number of replicates=2), using a Affymetrix mouse gene microarray.
2011-02-22 | E-GEOD-27429 | biostudies-arrayexpress
Project description:The miRNAs expression profile of three different types of teeth include deciduous incisor (QY), deciduous canine (JY) , deciduous premolar (QMY) ,and deciduous molar (MY) in three typical stages of tooth development embryonic day 40 , 50, and 60, which cover the major morphological and physiological changes in pig tooth germ growth and development throughout pregnancy including the bud, cap, and bell stages.
2013-12-31 | GSE53660 | GEO
Project description:The miRNAs expression profile of three different types of teeth include deciduous incisor (QY), deciduous canine (JY) , deciduous premolar (QMY) ,and deciduous molar (MY) in three typical stages of tooth development embryonic day 40 , 50, and 60, which cover the major morphological and physiological changes in pig tooth germ growth and development throughout pregnancy including the bud, cap, and bell stages. twelve-condition experiment, QY40 vs.QY50 vs.QY60 vs. JY40 vs. JY50vs. JY60 vs.QMY40 vs.QMY50 vs.QMY60 vs.MY40.vs.MY50.vs.MY60. Biological replicates: 1 , independently removed under a microscope. Four replicate per array.
2013-12-31 | E-GEOD-53660 | biostudies-arrayexpress