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Co-localization of Cell Lineage Markers and the Tomato Signal
Published on: December 28, 2016
Un gen de colágeno fibrillar, Col11a1, es esencial para la morfogénesis esquelética
Y Li1, D A Lacerda, M L Warman
1Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115.
Cell
|February 10, 1995
Resumen
La mutación de la condrodisplasia (cho) en ratones causa graves defectos de cartílago y letalidad embrionaria. Este estudio vincula la mutación cho con el colágeno XI, crucial para la estructura del cartílago y la organización de los condrocitos.
Área de la Ciencia:
- Genética La genética.
- Biología del desarrollo Biología del desarrollo.
- La bioquímica es la bioquímica.
Sus antecedentes:
- La mutación autosómica recesiva de la condrodisplasia (cho) en ratones conduce a la letalidad embrionaria con graves anomalías esqueléticas y de cartílago.
- Los ratones recién nacidos afectados presentan huesos de extremidades acortados y ensanchados y malformaciones en las costillas, la mandíbula y la tráquea.
Objetivo del estudio:
- Para investigar la base genética de la mutación de la condrodisplasia (cho).
- Determinar el papel del colágeno XI en el desarrollo del cartílago y la diferenciación de los condrocitos.
Principales métodos:
- El análisis de vinculación se empleó para mapear el gen cho.
- Se realizó un análisis molecular de la cadena alfa 1 (XI) del ARNm XI de colágeno de cartílago.
Principales resultados:
- El gen cho y el gen para la cadena alfa 1 (XI) del colágeno cartilaginoso XI fueron mapeados en la misma región del cromosoma 3.
- Una deleción en el alfa 1 (XI) mRNA causó un cambio de marco de lectura y una parada prematura del codón, identificando el colágeno XI como el gen afectado.
- Los ratones que carecían de colágeno XI funcional mostraban fibrillas de colágeno anormales en el cartílago y una organización deficiente de los condrocitos.
Conclusiones:
- El colágeno XI es esencial para la formación adecuada de las fibrillas de colágeno del cartílago y la integridad estructural del cartílago.
- La diferenciación normal de los condrocitos y la organización espacial dentro de la placa de crecimiento son críticamente dependientes de la presencia de colágeno tipo XI en la matriz extracelular.
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