Journal of craniofacial genetics and developmental biology. Supplement最新文献

{"title":"Effects of ethanol on the cytoskeleton of migrating and differentiating neural crest cells: possible role in teratogenesis.","authors":"J A Hassler,&nbsp;D J Moran","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Neural crest mesenchyme participates in the formation of craniofacial structures that are malformed in the fetal alcohol syndrome (FAS). We studied the effects of continuous ethanol treatment (0.05%, 0.10%, 0.15%, 0.20%) on developing neural crest cells in vitro. These cells migrate, but many fail to develop their usual arborized dendrites. Exposure of well differentiated dendritically arborized cells to ethanol only on day 6 for 2 hr and 20 min results in rapid cell retraction and alteration in cell-to-cell contacts. Longer treatment causes loss of substratum adhesion. Monoclonal antibodies against tubulin and actin reveal that these ethanol-induced morphological changes are related to disruption of microtubules and microfilaments. Thus ethanol may exert at least part of its teratogenic effect by interferring with the structure and function of the cytoskeleton.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"129-36"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Origins and patterning of craniofacial mesenchymal tissues.","authors":"D M Noden","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Three mesenchymal tissues participate in the formation of orofacial tissues; these are the neural crest, paraxial mesoderm, and lateral mesoderm. Interactions both among these populations and between them and surrounding epithelial tissues are an essential feature of facial development. Perturbation of these interactions may result in craniofacial malformations and dysmorphologies. This review outlines the origins and early morphogenetic movements of each of the three mesenchymal populations, then describes experiments which reveal some of the interactions that control their development. Spatial organization within cephalic mesenchyme is manifest initially in connective tissue precursors. In the facial region these are derived from the neural crest; in contrast, much of the neurocranium is derived from paraxial mesoderm. Most crest populations become spatially programmed prior to their emergence from the neuroepithelium, presumably during the primary induction of the neural plate. As they migrate to form the branchial arches, the crest populations bring spatial information to these peripheral regions. Connective tissue-forming populations within cephalic paraxial mesoderm display a similar inherent spatial programming, but it is not known when or how they acquire this information.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"15-31"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Appearance of a unique cell type in the fusion sites of facial processes.","authors":"K Kosaka,&nbsp;K Eto","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The contact sites between the medial and lateral nasal processes during the period of facial formation of the mouse embryo were examined by light and electron microscopy. Characteristic superficial cells were observed at the transitional regions between the surface ectoderms and the nasal epithelia at the end of the isthmus, where the initial contact of the opposing nasal processes took place. At the later stage the contact sites extended to the bottom of the ravine formed by the two nasal processes, where the superficial cells always seemed to bridge the area between the nasal processes. These superficial cells had a large, clear nucleus and abundant cytoplasm as well as the common structural features characteristic of the embryonic cells. These cells were also observed on the surface near the contact site in the presumptive fusion area. These observations suggest that these superficial cells play a critical role in the epithelial adhesion of the medial and lateral nasal processes throughout the fusion.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"45-52"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Major gene determination of liability to cleft lip with or without cleft palate: a multiracial view.","authors":"M L Marazita,&nbsp;M A Spence,&nbsp;M Melnick","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Despite nearly half a century of intensive investigation, the etiology of non-syndromic cleft lip with or without cleft palate (CL +/- P) remains unknown because most studies have been descriptive rather than analytic. This study summarizes rigorous analyses of CL +/- P in the families of non-syndromic, CL +/- P surgical probands from three populations: Denmark, London, England, and Shanghai, China. Three main conclusions could be drawn from the results. The data provide no support for the multifactorial threshold model summarized by Carter (1976) and most often proposed to explain the etiology of CL +/- P. Each dataset provides evidence that there may be a major gene for liability to CL +/- P in at least a portion of cases. The data are consistent with possible genetic heterogeneity in CL +/- P.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"89-97"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic epidemiology and control of genetic expression in van der Woude syndrome.","authors":"A B Burdick","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>By three pedigree and statistical criteria van der Woude syndrome (VWS) appears to have been underreported and frequently not diagnosed. Eight percent of gene carriers are not diagnosed because they are nonpenetrant. But among penetrant gene carriers as many as 80% may not have been recognized in the past. A direct estimate of incidence of VWS is 3.6/100,000 births; indirect estimates are more than double that. The relative risk of inheriting a cleft from an affected parent is 22.43%; the risk of inheriting lip pits only, or being nonpenetrant is 27.57%. (This corrects a similar statement in the abstract of Burdick et al [J Craniofacial Genet Dev Biol 5:181-208, 1985], which was incorrectly calculated). The idea of unitary control of the action of the VWS gene in the three target tissues appears not to be supported. Rather, we tend to support the idea that the gene is controlled independently in the three tissues. Indications of a family at risk are listed and discussed.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"99-105"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epigenetically regulated genomic expressions for shortened stature and cleft palate are regionally specific in the 11-day mouse embryo.","authors":"M N Runner","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Chronokinetic synergism, a holistic and extremely sensitive experimental design, has shown in the mouse embryo that site-specific epigenetic forces differentially regulate genesis of the palate (cleft palate) and limb bud organogenesis (shortened stature). Acute exposures of 11-day pregnant mice to minimally effective doses of thymidine or ethanol followed 5 or 8 hr later by minimal exposure to retinoic acid have enabled quantitative and qualitative assay for genomic-epigenetic interactions. These site-specific morphogenetic regulations occurred during palatal genesis from the maxillary prominence of the first pharyngeal arch and during limb bud prechondrogenesis. Thymidine is presumed to induce its response by inhibition of DNA polymerase and hence by transitory cytostatic block. (Embryo size was not detectably changed). Ethanol is interpreted, guilt by associated response, indirectly to interfere with histone regulation of transcription. Two central findings have demonstrated the coordinated regulation of genomic and epigenetic positional information. First, thymidine or ethanol as epigenetic probes for limb prechondrogenesis and palatal precursor cells have activated distinctive site-specific responses. Second, responses to chronokinetic synergisms have indicated that epigenetic regulators for limb and palate dysmorphogenesis may affect distinctly different phases of the cell division cycle and hence induce differential DNA expressions. Although each of palate and limb is concurrently susceptible to epigenetic regulation, their differential intrinsic genomic capabilities appear to have been uncoupled. The putative homeostatic balance of genomic expressions in the palate precursor and the prechondrogenic limb bud cells of the 11-day mouse embryo has been characterized as epigenetically regulated, alternatively expressed, and positionally restricted. We propose that the chronokinetic synergisms have disclosed the existence of distinctive palate-determining genes and stature-determining genes.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"137-68"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acalvaria, holoprosencephaly, and facial dysmorphism syndrome.","authors":"G H Sperber,&nbsp;L H Honoré,&nbsp;E S Johnson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>An estimated 85-day-old human fetus exhibited a malformation complex consisting of holoprosencephaly, absent calvaria, exophthalmic hypertelorism, and severe bilateral midfacial orofacial clefting involving the maxillary/frontonasal prominences (oblique facial clefts), upper lip (bilateral clefts), and palate (complete cleft). This combination of dysplasias precludes assignment to previously described syndrome complexes. The presence of an olfactory nerve/ethmoidal bone complex does not conform with \"classic holoprosencephaly,\" nor does acalvaria without cerebral dysraphism fit into the cranioschisis and exencephaly syndromes. It is postulated that this combination of anomalies is due to faulty embryogenesis of the prechordal cephalic mesenchyme, leading to failure of telencephalic cleavage and of neural crest-mediated development of the calvaria and facial prominences.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"319-29"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stage specific response of the mesenchyme to excess vitamin A in developing rat facial processes.","authors":"F Takakubo,&nbsp;K Eto","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The effects of excess retinol (vitamin A alcohol) on facial process formation were examined in cultured rat embryos. The embryos were explanted at day 11 of gestation (plug day = 0) and cultured for up to the 50-somite stage in rat serum containing added 1 microgram/ml or 10 micrograms/ml retinol. The reduction in outgrowth of facial processes was observed in 1-microgram/ml-retinol-treated embryos and this type of malformation was found to be more severe in 10-micrograms/ml-retinol-treated embryos. Histological findings of 10-micrograms/ml-retinol-treated embryos at the 50-somite stage showed that the nasal epithelium was developed but folded. In the mesenchyme, there were necrotic cells. Thymidine incorporation by mesenchymal cells of facial processes was determined. At the 50-somite stage, the uptake was decreased to 66.4% of control value at 1 microgram/ml retinol, whereas the addition of the same dose of retinol did not cause the inhibition at the 36-, 40-, and 42-somite stages. The uptake at the 50-somite stage was decreased to 23.0% as a result of the 10 micrograms/ml retinol treatment. Furthermore, the effects of cartilage-derived factor (CDF) on the facial mesenchyme were examined; 20 micrograms/ml of CDF stimulated the 3H-thymidine incorporation in facial mesenchyme, especially after the 42-somite stage. By the addition of 10 micrograms/ml retinol, the incorporation decreased to 45.7% at the 38-somite stage, but it did not decline with concomitant use of CDF after the 38-somite stage.(ABSTRACT TRUNCATED AT 250 WORDS)</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"179-85"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Major gene determination of liability to spontaneous cleft lip in the mouse.","authors":"F G Biddle,&nbsp;F C Fraser","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Two genetic analyses suggested that the spontaneous and low frequency trait of cleft lip (primary palate) in the mouse is determined either by a recessive gene at one autosomal locus or by two loci with duplicate epistasis. The low frequency trait of open eyelids, which is characteristic of the A/J strain and sometimes reported to be associated with cleft lip as part of a \"syndrome,\" has not been analyzed genetically. A backcross and test-mating study between A/J and C57BL/6J, done originally to define the genetic control of embryonic tolerance to cortisone-induced cleft palate (secondary palate), was reanalyzed for the cleft lip and open eyelids traits. Cleft lip frequencies in A/J did not change in dose-response studies of either cortisone- or 6-aminonicotinamide-induced cleft palate; for both teratogens the frequencies of open eyelids differed between doses but did not exhibit any obvious dose response. It appeared that the frequency of 7.6% cleft lip and 17.6% open eyelids in A/J in the genetic study, in which all pregnant A/J test-females were treated with a single dose of cortisone (100 mg/kg, day 12), did reflect the occurrence of the spontaneous traits. Within the A/J strain, the traits were not associated and, as expected on outcrossing to C57BL/6J (A.B6 F1 fetuses), both traits are recessive. Significant bimodality of the cleft lip scores of the BC1 sires (BC2 fetuses), test-mated with A/J, suggested that liability to cleft lip is determined by a single autosomal recessive gene. The distribution of open eyelids scores of the BC1 sires did not differ from one normal distribution, and this trait is, therefore, controlled by more than one genetic locus with additivity between loci. Cleft lip and open eyelids segregated independently and do not form a syndrome, in A/J, with one underlying genetic cause. There was no association between cleft lip and three autosomal marker genes, brown (b, chromosome 4), albinism (c, chromosome 7) and H-2 (chromosome 17), or the genetically independent tolerance traits of cortisone- and 6-aminonicotinamide-induced cleft palate. There was significant association between open eyelids and albinism (c) that is in a direction suggesting linkage or pleiotropy. Whether liability of the embryo to cleft lip is determined by one or two genes may be solved by a concerted effort to map the trait; a marker gene will be the key to further analysis of its cause.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"67-88"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Craniofacial and oral malformations in an autopsy population of Japanese human fetuses and newborns.","authors":"N Akimoto,&nbsp;T Ikeda,&nbsp;Y Satow,&nbsp;J Y Lee,&nbsp;N Okamoto","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A review of the autopsy records of the Department of Pathology of Nagasaki University and the Department of Geneticopathology of Hiroshima University from 1944 through 1982 revealed that during this period there were 11,050 cases of fetuses and newborns, including 432 cases with craniofacial and oral malformations and 22 cases with amniogenous malformations. Among the cranial malformations, there were 202 (46.8%) anencephaly cases, 38 (8.8%) holoprosencephaly, 28 (6.48%) hydrocephaly, 27 (6.25%) meningoencephalocele, and 13 other cranial malformations (seven microcephaly and two each of macrocephaly, dolichocephaly, and iniencephaly). Among the oral malformations, there were 25 (5.78%) cleft lip cases, 23 (5.32%) cleft palate, and 76 (17.6%) cleft lip and palate. Among the facial malformations, there were 12 (2.78%) anomicrophthalmia cases, 37 (8.56%) ear malformations, 15 (3.47%) micrognathia, and 8 (1.85%) nose malformations. One cranial malformation was found that was complicated with anencephaly and holoprosencephaly. Of 307 cranial malformations, 38 (12.4%) were complicated with oral malformations and 4 (4.6%) with facial malformations. Among the 124 cases of oral malformations, 38 (30.6%) were complicated with cranial malformations. The complicating cranial malformations were anencephaly in 16 cases, holoprosencephaly in seven, hydrocephaly in six, meningoencephalocele in seven, other cranial malformations in two, and with facial malformations in 19 cases. Among the 72 cases of facial malformations, 14 were complicated with cranial malformations and 19 with oral malformations. Four cases showed three or more cranial, facial, and/or oral malformations at the same time. Recently, experimental embryological studies have shown that the neural crest cell-derived mesectoderm participates largely in the morphogenesis of the face and the cardiovascular system. It may be said that neural crest cells are deeply involved in the teratogenesis.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"213-33"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}