Greig cephalopolysyndactyly syndrome: A possible mouse homologue (<i>Xt</i>‐extra toes)

Winter, R M; Huson, Susan M.; Prieur, David J.; Reynolds, James F.

doi:10.1002/ajmg.1320310411

Cited by 47 publications

(16 citation statements)

References 16 publications

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“…From this knowledge, Xt/Xt and Xt J. /Xt J. were considered to be the mouse homolog of GCPS (Winter & Huson 1988). As the Pdn mouse has been considered to be an allele of Xt , alteration of the Gli3 gene has been analyzed.…”

Section: Discussionmentioning

confidence: 99%

Sonic hedgehog expression inGli3depressed mouse embryo,Pdn/Pdn

Ueta¹,

Maekawa²,

Morimoto³

et al. 2004

Congenital Anomalies

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The phenotype of the genetic polydactyly/arhinencephaly mouse (Pdn/Pdn) is similar to Greig cephalopolysyndactyly syndrome (GCPS), which is induced by mutation of GLI3. Suppression of Gli3 gene expression has been observed in Pdn/Pdn. Thus, the gene responsible for Pdn/Pdn has been considered to be Gli3. Recently, the mutation point was demarcated, that is, a transposon was inserted into intron 3 of the Gli3 gene in the Pdn mouse. Forward and reverse primers were constructed in intron 3 near the insertion point. A forward primer in the long terminal repeat region of the transposon was also constructed. Now we can discriminate +/+, Pdn/+, Pdn/Pdn embryos from the PCR products. After genotyping of the Pdn embryos, Gli3 and other correlated gene expressions, such as sonic hedgehog (Shh), Bmp-2, Bmp-4, ptc-1, were analyzed by real-time PCR method. Gli3 gene expression in Pdn/Pdn was suppressed to 20-30% of +/+, and that in Pdn/+ was about 60% of +/+ through all the embryonic and neonatal periods examined. As Shh has been considered to be an antagonist of Gli3, Shh expression was analyzed, and a difference among genotypes was observed only on day 9 of gestation. We could not detect any alterations among genotypes in other gene expressions examined. Gli3 and Shh gene expression were also analyzed on day 9 by whole-mount in situ hybridization in the +/+ and Pdn/Pdn embryos. Neuroectoderm was positive by Gli3 probe in +/+ but not in Pdn/Pdn. Notochord, floor plate and prechordal mesoderm were positive by Shh probe both in +/+ and Pdn/Pdn embryos, but ectopic and/or over-expression of Shh were not observed in Pdn/Pdn embryos.

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Section: Discussionmentioning

confidence: 99%

Sonic hedgehog expression inGli3depressed mouse embryo,Pdn/Pdn

Ueta¹,

Maekawa²,

Morimoto³

et al. 2004

Congenital Anomalies

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“…ous syndactyly is also high. Large part of patients with cutaneous syndactyly has partial cutaneous syndactyly in several fingers (2,4,6). However, there are also cases with complete cutaneous syndactyly in all fingers.…”

Section: Discussionmentioning

confidence: 99%

A Greig Syndrome Case Diagnosed In One Of The Singleton Of Twin Preterm Who Were Obtained By Assisted Reproduction

Sandal¹,

Uraş²,

Erdeve³

et al. 2009

Ankara Üniversitesi Tıp Fakültesi Mecmuası

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“…The availability of large genomic segments encoding GLI3 with its regulatory domains will permit direct testing of the homology between the human GCPS and the mouse mutations extra toes (Xt) (Johnson, 1967;Winter and Huson, 1988) and add in transgenic ani-mals. Unlike add, the Xt phenotype results from a large deletion that includes the 5' region ofGLI3 (Vortkamp et al, 1992).…”

Section: Discussionmentioning

confidence: 99%