Systematic stereoscopic analyses for cloacal development: The origin of anorectal malformations

Matsumaru, Daisuke; Murashima, Aki; Fukushima, Junichi; Senda, Syuhei; Matsushita, Shoko; Nakagata, Naomi; Miyajima, Masayasu; Yamada, Gen

doi:10.1038/srep13943

Cited by 29 publications

(40 citation statements)

References 66 publications

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“…As a result, the Wolffian ducts appear to move cranially and dorsally on the surface of the cloaca, as was earlier observed in mice (Matsumaru et al. ). Similarly, the anorectal part of the cloaca becomes a progressively smaller part due to the difference in growth of the dorsal and ventral parts of the cloaca.…”

Section: Discussionsupporting

confidence: 71%

“…; Matsumaru et al. ). Furthermore, the urorectal septum consists of loose rather than dense mesenchyme that one usually associates with local cell proliferation.…”

Section: Discussionmentioning

confidence: 97%

“…) and mouse embryos (Matsumaru et al. ), but rapid proliferation may continue longer in mesenchyme than epithelium (Matsumaru et al. ).…”

Section: Discussionmentioning

confidence: 99%

“…), but rapid proliferation may continue longer in mesenchyme than epithelium (Matsumaru et al. ). Observed regional differences in growth, therefore, point to regional accumulation of extracellular matrix or regional differences in cell death.…”

Section: Discussionmentioning

confidence: 99%

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The development of the cloaca in the human embryo

et al. 2018

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Subdivision of cloaca into urogenital and anorectal passages has remained controversial because of disagreements about the identity and role of the septum developing between both passages. This study aimed to clarify the development of the cloaca using a quantitative 3D morphological approach in human embryos of 4–10 post‐fertilisation weeks. Embryos were visualised with Amira 3D‐reconstruction and Cinema 4D‐remodelling software. Distances between landmarks were computed with Amira3D software. Our main finding was a pronounced difference in growth between rapidly expanding central and ventral parts, and slowly or non‐growing cranial and dorsal parts. The entrance of the Wolffian duct into the cloaca proved a stable landmark that remained linked to the position of vertebra S3. Suppressed growth in the cranial cloaca resulted in an apparent craniodorsal migration of the entrance of the Wolffian duct, while suppressed growth in the dorsal cloaca changed the entrance of the hindgut from cranial to dorsal on the cloaca. Transformation of this ‘end‐to‐end’ into an ‘end‐to‐side’ junction produced temporary ‘lateral (Rathke's) folds’. The persistent difference in dorsoventral growth straightened the embryonic caudal body axis and concomitantly extended the frontally oriented ‘urorectal (Tourneux's) septum’ caudally between the ventral urogenital and dorsal anorectal parts of the cloaca. The dorsoventral growth difference also divided the cloacal membrane into a well‐developed ventral urethral plate and a thin dorsal cloacal membrane proper, which ruptured at 6.5 weeks. The expansion of the pericloacal mesenchyme followed the dorsoventral growth difference and produced the genital tubercle. Dysregulation of dorsal cloacal development is probably an important cause of anorectal malformations: too little regressive development may result in anorectal agenesis, and too much regression in stenosis or atresia of the remaining part of the dorsal cloaca.

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Section: Discussionsupporting

confidence: 71%

“…; Matsumaru et al. ). Furthermore, the urorectal septum consists of loose rather than dense mesenchyme that one usually associates with local cell proliferation.…”

Section: Discussionmentioning

confidence: 97%

“…) and mouse embryos (Matsumaru et al. ), but rapid proliferation may continue longer in mesenchyme than epithelium (Matsumaru et al. ).…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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The development of the cloaca in the human embryo

et al. 2018

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“…Presence of the cloacal membrane at the bottom of the urogenital sinus has been shown in rabbits, pigs, and human embryos (29)(30)(31)(32)(33)(34). Kluth et al (35) also documented the presence of cloacal membrane at the ventral surface of the urethra in rats under SEM; however, they did not observe the fusion of urethral folds.…”

Section: Epithelial Cell Apoptosismentioning

confidence: 93%

Epithelial–mesenchymal transformation and apoptosis in rat urethra development

et al. 2017

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BACKGROUND:To examine the mechanism of urethral seam formation during embryonal development of rat urethra. METHODS: Time-mated Sprague-Dawley rats were killed and the genital tubercles of male pups harvested on embryonic day (ED) 15, 16, 18, and 19. External morphology was observed under scanning electron microscope. Serial transverse sections were prepared to examine dynamic changes in the urethral seam morphology with hematoxylin-eosin staining, immunohistochemistry, transmission electron microscopy, and double immunofluorescence. RESULTS: Bilateral outgrowth of urethral swelling followed by urethral plate fusion in the midline to form urethral seam was observed from ED 16 onwards. Coexpression of epithelial and mesenchymal markers was observed in several cells at the urethral seam; a few cells with coexpression of epithelial and apoptotic markers were also observed. Mesenchymal transformation of epithelial cells and apoptotic epithelial cells was observed under transmission electron microscope. CONCLUSION: Urethral formation occurs by tubulogenesis, which initiates proximally and progresses distally. This is the first study to demonstrate epithelial-mesenchymal transformation and epithelial cell apoptosis in the urethral seam cells of fetal rats. These findings provide new insights into the mechanisms involved in embryonal development of the urethra.

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Familial autosomal dominant severe ankyloglossia with tooth abnormalities

Lenormand

Khonsari

Corre

et al. 2018

American J of Med Genetics Pt A

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Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male-to-male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X-linked TBX22 gene. Linkage analysis using short tandem repeat markers located in the vicinity of LGR5 excluded this gene as a potential candidate. These results indicate genetic heterogeneity for ankyloglossia. Further investigations with additional families are required in order to identify novel candidate genes.

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Systematic stereoscopic analyses for cloacal development: The origin of anorectal malformations

Cited by 29 publications

References 66 publications

The development of the cloaca in the human embryo

The development of the cloaca in the human embryo

Epithelial–mesenchymal transformation and apoptosis in rat urethra development

Familial autosomal dominant severe ankyloglossia with tooth abnormalities

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