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At least 19 recordsLinked to original sources

Lack of correlation between mesenchymal cell death and morphogenesis after different extents of apical ectodermal ridge/rim ectoderm removal in the chick embryo wing bud.

The removal of the apical ectodermal ridge (A.E.R.) subsequently causes distal deletion defects in the limb. There have been contradictory reports as to the appearance of cell death in the mesenchyme after A.E.R. removal, as well as to its morphogenetic significance. In our study the A.E.R./ rim ectoderm removal was varied to test whether different degrees of cell death would correlate with different degrees of distal deletions. From the right wing bud of stage 19 and 20 (HH) embryos the rim ectoderm was removed in four ways: all of the rim, the anterior third, the middle third (most of the A.E.R.), or its posterior third. The removal of all or of the anterior third caused a definite band of subwound mesenchymal cell death to appear. There was little or no cell death after removal of the middle or posterior thirds. Removal of the anterior third caused no distal deletion defects, and only a few were noted after removal of the posterior third. The proximo-distal level of the distal deletions, however, was the same after removal of all of the rim or only its middle third. As there was no difference in the degree of distal deletions after the removal of all or of the middle third of the rim but a definite difference in the mesenchymal cell death patterns we conclude that cell death is not part of the mechanisms of the distal deletion defect. Our findings also suggest that cell death does not play a role in the A.E.R.-mesenchyme reciprocal interaction that controls limb proximo-distal morphogenesis.

Animals

Foxi2 and Sox3 are master regulators controlling ectoderm germ layer specification.

In vertebrates, germ layer specification represents a critical transition where pluripotent cells acquire lineage-specific identities. We identify the maternal transcription factors Foxi2 and Sox3 to be pivotal master regulators of ectodermal germ layer specification in Xenopus. Ectopic co-expression of Foxi2 and Sox3 in prospective endodermal tissue induces the expression of ectodermal markers while suppressing mesendodermal markers. Transcriptomics analyses reveal that Foxi2 and Sox3 jointly and independently regulate hundreds of ectodermal target genes. During early cleavage stages, Foxi2 and Sox3 pre-bind to key cis-regulatory modules (CRMs), marking sites that later recruit Ep300 and facilitate H3K27ac deposition, thereby shaping the epigenetic landscape of the ectodermal genome. These CRMs are highly enriched within ectoderm-specific super-enhancers (SEs). Our findings highlight the pivotal role of ectodermal SE-associated CRMs in precise and robust ectodermal gene activation, establishing Foxi2 and Sox3 as central architects of ectodermal lineage specification.

Ep300

Foxi2 and Sox3 are master transcription regulators that control ectoderm germ layer specification in Xenopus.

Germ layer specification represents a critical transition where pluripotent cells acquire lineage-specific identities. We identify the maternal transcription factors Foxi2 and Sox3 to be pivotal master regulators of ectodermal germ layer specification in Xenopus. Ectopic co-expression of Foxi2 and Sox3 in prospective endodermal tissue induces the expression of ectodermal markers while suppressing mesendodermal markers. Transcriptomic analyses reveal that Foxi2 and Sox3 jointly and independently regulate hundreds of ectodermal target genes. During early cleavage stages, Foxi2 and Sox3 pre-bind to key cis-regulatory modules (CRMs), marking sites that later recruit Ep300 and facilitate H3K27ac deposition, thereby shaping the epigenetic landscape of the ectodermal genome. These CRMs are highly enriched within ectoderm-specific super-enhancers (SEs). Our findings highlight the pivotal role of ectodermal SE-associated CRMs in precise and robust ectodermal gene activation, establishing Foxi2 and Sox3 as central architects of ectodermal lineage specification.

Animals

Effects of cytosine arabinoside, 6-aminonicotinamide, and 6-mercaptopurine riboside on ectoderm and mesoderm of mouse limb buds.

The effects of cytosine arabinoside, 6-aminonicotinamide, and 6-mercaptopurine riboside on the incorporation of [14C] glucose moieties and [32P] phosphate into acid-soluble material and lipids, RNA, DNA, and protein were measured in the dissected mesoderm and ectoderm of mouse limb buds at the 42-45 (day 11) somite stage. Due to the different proliferative capacities of the two tissues the incorporation of the precursors into mesodermal cells was considerably higher the than into ectodermal ones. Cytosine arabinoside inhibited the incorporation of the precursor moieties only into DNA, but very early after its application. This effect was more obvious in mesoderm than ectoderm. 6-Aminonicotinamide interfered only with glucose metabolism, whereas the incorporation of phosphate was not affected. 14C radioactivity in the various cell components was similarly reduced in mesoderm and ectoderm. 6-mercaptopurine riboside caused an increased incorporation of precursor material in all fractions studied in the mesoderm as well as in the ectoderm during the first 12 hours. This was succeeded by a dramatic decrease of incorporated 14C and 32P radioactivity. Differences of response in the tissues could not be detected with this drug. It is suggested that the malformations of the extrmities caused by these antimetabolites may be predominantly attributed to changes in the cell function rather than to gross effects on cell metabolism.

6-Aminonicotinamide

The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet.

Syndromes of human congenital malformation may be classified be recognizing communities of syndromes that share multiple phenotypic similarities involving their principal diagnostic features. A community of syndromes that shares various expressions of ectodermal dysplasia and various deformities of the hands and feet is proposed; these syndromes are divisible into two classes according to the presence or absence of anomalies in the nasal or labial regions of the face. The dysmorphogenetic validity of the division is supported by the fact that the syndromes without nasal or labial anomalies have a high frequency of sensorineural deafness as one expression of ectodermal dysplasia whereas those without such anomalies do not. The usefulness of such a syndromal community as a base for evolving a taxonomic scheme of dysmorphogenetic relatedness amongst different syndromes is illustrated.

Abnormalities, Multiple

Cyclic AMP derivatives stimulate the chondrogenic differentiation of the mesoderm subjacent to the apical ectodermal ridge of the chick limb bud.

Recent studies indicate that one of the major functions of the apical ectodermal ridge (AER) of the embryonic chick limb bud is to maintain mesenchymal cells directly subjacent to it (i.e., cells extending 0.4-0.5 mm from the AER) in a labile, undifferentiated condition. Furthermore, when mesenchymal cells are freed from the AER's influence, either artifically or as a result of normal polarized proximal-to-distal limb outgrowth, they are freed to commence cytodifferentiation. In a preliminary attempt to investigate at a molecular level the mechanism by which the AER exerts its "negative" effect on the cytodifferentiation of subridge mesenchymal cells, we have examined the effect of a variety of agents that elevate cyclic AMP levels on the chondrogenic differentiation of the unspecialized subridge mesoderm of the limb bud in an organ culture system. Dibutyryl- and 8-hydroxy-cyclic AMP elicit a dose-dependent increase in the rate and amount of cartilage matrix formation and a corresponding dose-dependent increase in sulfated glycosaminoglycan accumulation by subridge mesoderm explants. The stimulatory effect of suboptimal concentrations of cyclic AMP derivatives is potentiated by the addition of theophylline. The stimulatory effect is limited to cyclic AMP derivatives, since dibutyryl-cyclic GMP and 5'-AMP have no effect. Thus agents that elevate intracellular cyclic AMP levels stimulate the chondrogenic differentiation of the unspecialized subridge mesoderm of the embryonic chick limb bud.

Animals

Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.

Abnormalities, Multiple

The transmission of impulses in the ectodermal slow conduction system of the sea anemone Calliactis parasitica (Couch).

1. The SS 1 fatigues in response to repetitive electrical stimulation. This fatigue is manifested by an increased conduction delay and a decreased SS 1 pulse amplitude. 2. Continued repetitive stimulation leads to the failure of the system. Recovery may take many seconds. Narrow strips of column fail more rapidly than wide strips. 3. The increased conduction delay is explained in terms of a decrease in the population of spiking cells. 4. A computer model is described and analysed. It suggests that conduction between electrically coupled ectoderm cells could be the basis for the SS1. The SS 1 may have properties not so far experimentally demonstrated; for example, under certain conditions it could behave as a local system.

Animals

[EEC syndrome: ectrodactyly, ectodermal dysplasia and cleft lip-palate (author's transl)].

Authors present a new and complete from of EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate), analysing its' clinical, genetic and therapeutic aspects. Syndrome malformations involving mainly mesenchymal tissue and with diverse clinical expression suggest a heterogenetic heredity. Participation of environmental and unknown factors is not excluded.

Cleft Palate

Impairment of cell-mediated immunity in ectodermal dysplasia with aplastic anemia.

A case of ectodermal dysplasia and aplastic anemia is presented in which a cell-mediated immunodeficiency led to a fatal Pneumocystis carinii infection. Elevated levels of IgG, IgA and IgD were present with normal specific antibody titres. A deficient cell-mediated immunity was documented by low T cell numbers, poor in vitro mitogenic responses, negative skin tests and by the histologic finding at autopsy of thymic dysplasia.

Anemia, Aplastic

[Contribution to familial ectodermal dysplasia].

The frequent occurrence of the clinical picture of ectodermal dysplasia in the family P. is described. The differences between subjects in symptomatology are discussed in detail. The author's experience speaks well for a great variability of the hereditary mode of this disease. Furthermore, advice is given on the detection and regular ambulatory supervision by the stomatologist.

Anodontia

Cellular immunodeficiency in anhidrotic ectodermal dysplasia.

By using in vitro methods of patients with anhidrotic ectodermal dysplasia (AED) was shown to have depressed lymphocyte function when compared with a control group. IgE levels of the AED group were elevated above those of a control group at the p=0.01 level of significance. In vivo methods utilizing the application of DNCB demonstrated, in addition, decreased delayed hypersensitivity reactions in the anhidrotic patients. Thus there appears to be some degree of cellular immune hypofunction in patients with AED, all of whom have demonstrated at some time a lichenified dermatitis clinically indistinguishable from atopic dermatitis.

Antibody Formation

On the differentiation of prospective ectoderm to a ciliated cell pattern in embryos of Ambystoma mexicanum.

The differentiation of the ectoderm in Ambystoma mexicanum (Harrison stage 26--27) was examined under in vivo and in vitro conditions by scanning electron microscopy under different experimental conditions. About one out of three flank epidermal cells was found to be ciliated in the undistrubed or control embryos. The shape of ciliated cells in the explants from the animal region was only slightly affected. In no case was it possible to find two adjacent ciliated cells, implying that these cells prevent the appearance of cilia in the cells in direct contact. Transformation to ciliated cells is suppressed by hypertonicity but favoured in a hypotonic medium. The differentiation of epidermis is also dependent upon the synthesis of RNA and some kind of sulphated glucosaminoglycan, corroborated by the inhibitory effect of actinomycin and selenate. The differences between the test series and the controls are discussed with regard to factors controlling embryonic epidermal differentiation.

Ambystoma

[Cross-reacting epithelial antigen of ectodermal origin in mouse tumors].

Cross-reacting antigen (CR-antigen) previously found by indirect immunofluorescence in cell elements of murine multilayer epithelial cells (except corneal epithelium) to play the role of antigenic label of cover epithelia of ectodermal origin was found in mice tumor cells, related histogenetically with multilayer epithelium (transplantable proventricular cancer, two strains of squamous-cell cervical cancer in mice). CR-antigen was observed in transplantable breast adenocarcinoma and in transplantable mice teratocarcinoma.

Adenocarcinoma

Mammalian DNA methyltransferases in DNA methylation and imprinted gene expression in extraembryonic ectoderm of post-implantation embryos.

DNA methylation in mammals is mainly catalyzed by three DNA methyltransferases (DNMTs). Conventionally, DNMT1 is considered the primary DNMT protein for maintenance DNA methylation, whereas DNMT3A and DNMT3B function in de novo DNA methylation. In two previous studies, we demonstrated that DNMT3A and DNMT3B maintain genome-wide DNA methylation in embryonic stem (ES) cells and in the epiblast of post-implantation embryos. Interestingly, DNMT3A and DNMT3B also sustain genome-wide DNA methylation in the extraembryonic ectoderm (EXE) of post-implantation embryos, including repeats, genic and intergenic regions. Although DNMT1 plays a major role in maintaining DNA methylation at the imprinting control regions (ICRs) in the imprinted regions, DNMT3A and DNMT3B are required for preserving DNA methylation at the ICRs of a subset of imprinted regions in EXE, similar to the observations in ES cells and epiblast. Surprisingly, de novo DNA methylation mediated by DNMT3A and DNMT3B leads to increased DNA methylation at a large subset of imprinted regions. These results are consistent with what we previously elucidated in the epiblast of post-implantation embryos. Importantly, loss of DNA methylation at the ICR of an imprinted region, resulting from the absence of DNMT1 or two DNMT3 proteins, causes allelic expression switch of the corresponding imprinted genes in that imprinted region. This study provides further evidence that DNMT3A and DNMT3B exert both maintenance and de novo DNA methylation functions across the genome in post-implantation embryos. It also validates some previous findings for DNA methylation-dependent allelic expression switch of imprinted genes.

DNA methylation

Hidrotic ectodermal dysplasia: study of a large Chinese pedigree.

Hidrotic ectodermaldysplasia was found, to our knowledge, for the first time in a Chinese family in Malaysia, and it affected 15 members in five generations. The disease, which is transmitted as a non-sex-linked autosomal dominant trait, presumably originated from southern China. All 15 members had the typical nail, hair, and skin lesions, and we observed three different types of nail defects. Scalp alopeica was more extensive in the female members while keratoderma of the palms and soles was more notable in the male members. The nail and skin lesions also became severer with age. Except for the infectious eczematoid dermatitis present in the propositus, none had other skin or systemic disorders. All were relatively healthy and had normal life expectancies;

Adult