Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

doi:10.1016/s0092-8674(01)00205-7

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Article

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Cell - 26 Jan 2001

Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A

Abstract excerpt

The recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly pleiotropic with manifestations including short stature, defective cellular immunity, and predisposition to several cancers. The endoribonuclease RNase MRP consists of an RNA molecule bound to several proteins. It has at least two functions, namely, cleavage of RNA in mitochondrial DNA synthesis and nucleolar cleaving of...

Topics

Alleles
Base Sequence
Cartilage
Chromosome Mapping
DNA Mutational Analysis
Endoribonucleases
Gene Silencing
Genetic Markers
Hair
Humans
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Osteochondrodysplasias

Precipitin Tests

Promoter Regions, Genetic

RNA

Ribonucleoproteins

Source

Open in PubMed

Identifiers

PMID: 11207361
DOI: 10.1016/s0092-8674(01)00205-7

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Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.PMID 11207361Read ↗

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