Expression of Hox 2.1 protein in restricted populations of neural crest cells and pharyngeal ectoderm

Kuratani, Shigeru; Wall, Nancy A.

doi:10.1002/aja.1001950103

Cited by 51 publications

(34 citation statements)

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“…This restricted population of Hoxb-5 positive neural crest cells is not present in the mouse cardiac neural crest but is restricted to the cell population in the sixth arch. In this region, positive cells also reach a mesenchymal cell population on the lateral aspect of the foregut, which is continuous with the pharyngeal arch 6 region (29). These data suggest that an anomalous contribution of this restricted population of Hoxb-5 positive neural crest cells may play a role in the pathogenesis of EA and caudal aortic arch anomalies.…”

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confidence: 73%

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Pattern of Cardiovascular Anomalies Associated with Esophageal Atresia: Support for a Caudal Pharyngeal Arch Neurocristopathy

et al. 2001

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Patients with cephalic neurocristopathy (an abnormality of neural crest differentiation) present a striking pattern of associated cardiovascular anomalies (CVA). Therefore, to support the hypothesis that esophageal atresia (EA) may be related to a defective contribution from the cephalic neural crest, we studied the pattern of CVA associated with EA. Medical records of 99 patients with isolated EA, 101 with isolated anorectal malformations (ARM) and 15 with both EA and ARM, consecutively admitted to our unit, were reviewed. The prevalence and pattern of CVA associated with isolated EA or isolated ARM were compared on the assumption that the cranial or caudal location of a major malformation is related to a different regional patterning of associated anomalies. The prevalence of CVA was 39% in patients with isolated EA and 7% in those with isolated ARM (p Ͻ 0.01). Neural crest-related CVA (aortic arch anomalies, conotruncal defects, and superior vena cava malformations) accounted for 72% of all CVA in patients with isolated EA versus 14% in those with isolated ARM (p Ͻ 0.02). In patients with isolated EA, anomalies of the fourth and sixth aortic arch derivatives accounted for 75% of all neural crest related CVA. The present pattern of CVA in infants with EA supports the concept that EA may be related to an abnormal contribution from caudal portion of cephalic neural crest. Nearly all infants with EA present with clinical manifestations of a maturational dysautonomia (1). The autonomic disturbances are similar to those found in infants with PierreRobin or Di George syndromes, which are considered pharyngeal arch syndromes related to a cephalic neurocristopathy (an abnormality of cephalic neural crest differentiation) (2). In addition, Ͼ90% of patients with EA present with one or more minor facial anomalies, which are considered markers of an abnormal developmental activity of the cephalic neural crest (3). These findings, i.e. the association with maturational dysautonomia and facial anomalies, suggest that EA should be included among the pharyngeal arch neurocristopathies (3).To test this hypothesis, we studied, in a large series of patients with EA, the prevalence of aortic arch and conotruncal heart anomalies, which are considered the most distinctive CVA of Di George syndrome (4 -6). These defects appear to be related to an abnormal participation of the cephalic neural crest, inasmuch as ablation of cardiac neural crest, in chick embryos, invariably results in aortico-pulmonary septation defects associated with anomalies of the great arteries (7-10). METHODSThe records of 114 patients with EA and 116 with ARM, consecutively admitted to our unit between 1967 and 1998, were retrospectively reviewed. We decided to compare the prevalence and the pattern of CVA associated with EA with those associated with ARM, on the assumption that these two abnormalities should have a different pattern of associated anomalies. Actually, abnormal development of the cephalic neural crest may result in face, thymus, thyroid, parath...

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confidence: 73%

“…However, the sixth arch, which gives rise to the ductus arteriosus, has a unique identity because only the sixth arch retains Hox 2.1 (Hoxb-5) expression (29,30). This restricted population of Hoxb-5 positive neural crest cells is not present in the mouse cardiac neural crest but is restricted to the cell population in the sixth arch.…”

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confidence: 99%

Pattern of Cardiovascular Anomalies Associated with Esophageal Atresia: Support for a Caudal Pharyngeal Arch Neurocristopathy

et al. 2001

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“…Seemingly conflicting with this hypothesis is the fact that TTF-1 is strongly expressed in epithelial cells but not mesenchyme at day 12.5 of development (69). Conversely, Hox genes are only expressed in mesenchymal cells at this stage (56,72,73). However, a potential overlap of Hox gene and TTF-1 gene expression at earlier or later stages of development can not be excluded and warrants further studies.…”

Section: Hox Genes In Lung Cell Differentiationmentioning

confidence: 96%

Hox genes in the lung.

Kappen

1996

Am J Respir Cell Mol Biol

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Hox genes are a specific subgroup of homeobox containing genes that are characterized by their structural and functional homology to homeotic genes of the fruit fly Drosophila (1). These genes play important roles in pattern formation along the anterior-posterior axis in the developing embryo in both invertebrates and vertebrates (2). The proteins encoded by Hox genes contain the DNA-binding homeodomain (3), and are therefore believed to act as transcription factors that regulate the expression of other genes during morphogenesis (4, 5). More than 100 of other genes have been identified in mammals that encode homeodomain proteins (6, 7) of which the Hox genes are the best characterized. A growing number of animals with genetically induced aberrant Hox gene expression is providing insight into the crucial function of Hox genes in axial patterning; it is also becoming clear that Hox genes are important in the development of internal organs and the differentiation of tissues.The development of the lung starts out from protrusions of the primitive gut, the lung buds (8). Elongation and branching then leads to the formation of the trachea and bronchi and progressive branching elaborates the distal alveoli (9). The proximal-distal orientation of these distinct structures suggests that they could be specified by mechanisms paralleling those that govern anterior-posterior (rostral-caudal) axial specification. The inner surface of the lung is derived from endodermal cells that differentiate into epithelial cells under the influence of the surrounding mesenchymal cells which are of mesodermal origin (reviewed in (10). It is believed that interactions with the mesenchyme are important for epithelial cell differentiation and function. In short, lung development is characterized by two phases, the early specification of the proximal-distal axis and later events of tissue differentiation. As I will present here, there is increasing evidence that Hox genes are involved both in regional specification and cell differentiation in lung development. The genomic organization of vertebrate Hox genesis characterized by their arrangement in chromosomal clusters (11). Figure 1 shows schematically that highly similar genes (paralogs) occupy corresponding positions on different clusters. Intriguingly, the position of genes within a cluster is correlated to their order of expression along the anterior-posterior (rostral-caudal) axis (12). In addition, the genes located towards the 5′ end of the clusters have been shown to be expressed in developing limbs in anterior-posterior (thumb-pinkie) and proximal-distal direction (13). The overlapping but distinct expression patterns have been taken to suggest that a combinatorial code of Hox gene expression specifies the subsequent development of a given body region (14).

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“…More rostral expression induced by retinoic acid (see below) "converts" the trigeminal ganglion into a facial nerve ganglion (Marshall et al, 1992). Hox-B5 (2.1) appears to be involved primarily in the development of the vagal nerve ganglia (Kuranti and Wall, 1992). Msx~l (Hox-7) is found in migrating neural crest cells (Takahashi and LeDouarin, 1990) and in mesenchyme of the facial prominences and branchial arches as well as in the mesenchyme surrounding developing teeth (MacKenzie et al, 1991a,b).…”

Section: (C) Mechanisms Of Differentiation Of Neural Crest Cellsmentioning

confidence: 99%

Prenatal Craniofacial Development: New Insights On Normal and Abnormal Mechanisms

Johnston

Bronsky²

1995

Critical Reviews in Oral Biology & Medicine

116

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Technical advances are radically altering our concepts of normal prenatal craniofacial development. These include concepts of germ layer formation, the establishment of the initial head plan in the neural plate, and the manner in which head segmentation is controlled by regulatory (homeobox) gene activity in neuromeres and their derived neural crest cells. There is also a much better appreciation of ways in which new cell associations are established. For example, the associations are achieved by neural crest cells primarily through ceil migration and subsequent cell interactions that regulate induction, growth, programmed cell death, etc. These interactions are mediated primarily by two groups of regulatory molecules, "growth factors" (e.g., FGF and TGFoc) and the so-called steroid/thyroid/retinoic acid superfamily. Considerable advances have been made with respect to our understanding of the mechanisms involved in primary and secondary palate formation, such as growth, morphogenetic movements, and the fusion/merging phenomenon. Much progress has been made on the mechanisms involved in the final differentiation of skeletal tissues.Molecular genetics and animal models for human malformations are providing many insights into abnormal development. A mouse model for the fetal alcohol syndrome (FAS), a mild form of holoprosencephaly, demonstrates a mid-line anterior neural plate deficiency which leads to olfactory placodes being positioned too close to the mid-line, and other secondary changes. Work on animal models for the retinoic acid syndrome (RAS) shows that there is major involvement of neural crest cells. There is also major crest cell involvement in similar syndromes, apparently including hemifacial microsomia. Later administration of retinoic acid prematurely and excessively kills ganglionic placodal cells and leads to a malformation complex virtually identical to the Treacher Collins syndrome. Most clefts of the lip and/or palate appear to have a multifactorial etiology. Genetic variations in TGFocs, RARocs, NADH dehydrogenase, an enzyme involved in oxidative metabolism, and cytochrome P-450, a detoxifying enzyme, have been implicated as contributing genetic factors. Cigarette smoking, with the attendant hypoxia, is a probable contributing environmental factor. It seems likely that few clefts involve single major genes. In most cases, the pathogenesis appears to involve inadequate contact and/or fusion of the facial prominences or palatal shelves. Specific mutations in genes for different FGF receptor molecules have been identified for achondroplasia and Crouzon's syndrome, and in a regulatory gene (Msx2) for one type of craniosynostosis. Poorly co-ordinated control of form and size of structures, or groups of structures (e.g., teeth and jaws), by regulatory genes should do much to explain the very frequent "mismatches" found in malocclusions and other dentofacial "deformities".Future directions for research, including possibilities for prevention, are discussed.

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Expression of Hox 2.1 protein in restricted populations of neural crest cells and pharyngeal ectoderm

Abstract: A polyclonal antibody, aHox 2.la, was used to localize Hox 2

Cited by 51 publications

References 36 publications

Pattern of Cardiovascular Anomalies Associated with Esophageal Atresia: Support for a Caudal Pharyngeal Arch Neurocristopathy

Pattern of Cardiovascular Anomalies Associated with Esophageal Atresia: Support for a Caudal Pharyngeal Arch Neurocristopathy

Hox genes in the lung.

Prenatal Craniofacial Development: New Insights On Normal and Abnormal Mechanisms

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