RMRP Gene

The RMRP gene is located on chromosome 9p13.3 and encodes the RNA component of the mitochondrial RNA processing endoribonuclease. This endoribonuclease cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication.

This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a specific ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA.

Mutations in this gene are associated with cartilage-hair hypoplasia (OMIM: 250250; Omim: 250460), a rare autosomal recessive disorder with skeletal dysplasia involving the metaphyses, congenital short stature, alopecia and immunodeficiencies.

Also in the heterogeneous Omenn syndrome, an immunodeficiency syndrome, RMRP mutations are detected in addition to RAG1/RAG2 mutations.

1. Bonafe L (2002) RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 61: 146-151
2. Makitie O (2001) Increased mortality in cartilage-hair hypoplasia. Arch Dis Child 84: 65-67
3. Ridanpaa M et al (2002) Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin o the major 70A-G muatation of untranslated RMPR. Eur J Hum Gent 10: 439-447