Fair allocation of health-care resources: finding a model that does not disenfranchise users of genetic services. A commentary on Rogowski et al....

Skirton, Heather

doi:10.1038/ejhg.2013.170

Cited by 11 publications

(10 citation statements)

References 10 publications

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“…Our data demonstrate a key role for Hh signaling in Xenopus mouth development; genetic evidence suggests that this is also the case in humans (DéMurger et al, 2014; Legius et al, 1988). To ask if Hh loss of function might perturb mammalian BPM perforation, we examined mice mutant for Sonic hedgehog ( Shh ).…”

Section: Resultssupporting

confidence: 64%

“…In humans, Greig cephalopolydactyly (GCPS) and Pallister–Hall syndromes are caused by mutation of the Hedgehog effector Gli3 (DéMurger et al, 2014; Legius et al, 1988). Both syndromes are associated with an absence of oral perforation (DéMurger et al, 2014).…”

Section: Resultsmentioning

confidence: 99%

“…Both syndromes are associated with an absence of oral perforation (DéMurger et al, 2014). We examined BPM perforation using mice carrying the Gli3 xt-J allele which models GCPS (Hui and Joyner, 1993).…”

Section: Resultsmentioning

confidence: 99%

“…In mammals, virtually nothing is known about the molecular control of primary mouth formation, but several craniofacial syndromes, including CHARGE, Down, Holzgreve–Wagner–Rehder, Greig cephalopolydactyly syndrome (GCPS) and synostotic syndromes, as well as cleft palate, have been associated with persistent BPM (Kliegman, 2011; DéMurger et al, 2014; Pillai et al, 1990; Verma and Geller, 2009). Notably, Holzgreve–Wagner–Rehder syndrome involves cleft palate and postaxial polydactyly, phenotypes associated with Hh perturbation (Legius et al, 1988).…”

Section: Introductionmentioning

confidence: 99%

“…Notably, Holzgreve–Wagner–Rehder syndrome involves cleft palate and postaxial polydactyly, phenotypes associated with Hh perturbation (Legius et al, 1988). Furthermore, a recent publication reports that GCPS—characterized by mutations in the Hh effector Gli3—caused oral anomalies in all prenatal cases observed, and in one instance a complete absence of the oral opening (DéMurger et al, 2014). We therefore tested the requirements for Hedgehog signaling during primary mouth development.…”

Section: Introductionmentioning

confidence: 99%

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Hedgehog activity controls opening of the primary mouth

Tabler

Bolger

Wallingford

et al. 2014

Developmental Biology

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To feed or breathe, the oral opening must connect with the gut. The foregut and oral tissues converge at the primary mouth, forming the buccopharyngeal membrane (BPM), a bilayer epithelium. Failure to form the opening between gut and mouth has significant ramifications, and many craniofacial disorders have been associated with defects in this process. Oral perforation is characterized by dissolution of the BPM, but little is known about this process. In humans, failure to form a continuous mouth opening is associated with mutations in Hedgehog (Hh) pathway members; however, the role of Hh in primary mouth development is untested. Here, we show, using Xenopus, that Hh signaling is necessary and sufficient to initiate mouth formation, and that Hh activation is required in a dose-dependent fashion to determine the size of the mouth. This activity lies upstream of the previously demonstrated role for Wnt signal inhibition in oral perforation. We then turn to mouse mutants to establish that SHH and Gli3 are indeed necessary for mammalian mouth development. Our data suggest that Hh-mediated BPM persistence may underlie oral defects in human craniofacial syndromes.

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Section: Resultssupporting

confidence: 64%