What question did this study set out to answer?

To determine the embryonic expression profile of the homeobox genes SHOX and SHOX2 and clarify their contribution to the skeletal abnormalities observed in Turner syndrome.

March 22, 2000Human Molecular GeneticsOpen Access

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome

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Authors

MCMark Clement-JonesUniversity of Liverpool

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Implication

Developmental expression analysis demonstrates SHOX localization in developing limbs and pharyngeal arches in human embryos, highlighting its role in Turner syndrome skeletal abnormalities.

Key Points

To determine the embryonic expression profile of the homeobox genes SHOX and SHOX2 and clarify their contribution to the skeletal abnormalities observed in Turner syndrome.
Analyzed spatial expression patterns of SHOX and SHOX2 during human embryonic development.
Compared human developmental expression patterns against Og12x, the murine orthologue of SHOX2.
Evaluated phenotypic overlap by examining dysmorphic skeletal features in patients carrying SHOX nonsense mutations.
SHOX is specifically expressed during human embryogenesis in the developing limbs and the first and second pharyngeal arches.
Identified expression zones align directly with classic Turner syndrome skeletal stigmata, including micrognathia, high-arched palate, and Madelung deformity.
Patients with SHOX nonsense mutations exhibit characteristic dysmorphic skeletal features, confirming that SHOX haploinsufficiency underlies these developmental defects.

Cite This Study

Mark Clement-Jones (2000) studied this question.

synapsesocial.com/papers/6a7bf1b848312d37e475f4ab https://doi.org/10.1093/hmg/9.5.695

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Implication

Developmental expression analysis demonstrates SHOX localization in developing limbs and pharyngeal arches in human embryos, highlighting its role in Turner syndrome skeletal abnormalities.