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Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

Abstract：

:The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding its extracellular ligand, C-type natriuretic peptide (CNP). CNP has previously been implicated in the regulation of skeletal growth in transgenic and knockout mice. The autosomal recessive skeletal dysplasia known as "acromesomelic dysplasia, type Maroteaux" (AMDM) maps to an interval that contains NPR2. We sequenced DNA from 21 families affected by AMDM and found 4 nonsense mutations, 4 frameshift mutations, 2 splice-site mutations, and 11 missense mutations. Molecular modeling was used to examine the putative protein change brought about by each missense mutation. Three missense mutations were tested in a functional assay and were found to have markedly deficient guanylyl cyclase activity. We also found that obligate carriers of NPR2 mutations have heights that are below the mean for matched controls. We conclude that, although NPR-B is expressed in a number of tissues, its major role is in the regulation of skeletal growth.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Bartels CF,Bükülmez H,Padayatti P,Rhee DK,van Ravenswaaij-Arts C,Pauli RM,Mundlos S,Chitayat D,Shih LY,Al-Gazali LI,Kant S,Cole T,Morton J,Cormier-Daire V,Faivre L,Lees M,Kirk J,Mortier GR,Leroy J,Zabel B,Kim CA,

doi

10.1086/422013

subject

Has Abstract

pub_date

2004-07-01 00:00:00

pages

27-34

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61990-9

journal_volume

75

pub_type

杂志文章

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