Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
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ABSTRACT:
SUBMITTER: Argente J
PROVIDER: S-EPMC3958305 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
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Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
Argente Jesús J Flores Raquel R Gutiérrez-Arumí Armand A Verma Bhupendra B Martos-Moreno Gabriel Á GÁ Cuscó Ivon I Oghabian Ali A Chowen Julie A JA Frilander Mikko J MJ Pérez-Jurado Luis A LA
EMBO molecular medicine 20140130 3
The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein (snRNP) formation and splicing of U12-type introns. We found anomalies in U11/U12 di-snRNP formation and in splicing of multiple U12-type i ...[more]
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