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DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

Abstract：

:The DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 mutations result in X-linked adrenal hypoplasia congenita (AHC). Our objective was to identify DAX1 mutations in a series of families, to determine the types of mutations resulting in AHC and to locate single-amino-acid changes in a DAX1 structural model. The 14 new mutations identified among our 17 families with AHC brought the total number of families with AHC to 48 and the number of reported mutations to 42; 1 family showed gonadal mosaicism. These mutations included 23 frameshift, 12 nonsense, and six missense mutations and one single-codon deletion. We mapped the seven single-amino-acid changes to a homology model constructed by use of the three-dimensional crystal structures of the thyroid-hormone receptor and retinoid X receptor alpha. All single-amino-acid changes mapped to the C-terminal half of the DAX1 protein, in the conserved hydrophobic core of the putative LBD, and none affected residues expected to interact directly with a ligand. We conclude that most genetic alterations in DAX1 are frameshift or nonsense mutations and speculate that the codon deletion and missense mutations give insight into the structure and function of DAX1.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Zhang YH,Guo W,Wagner RL,Huang BL,McCabe L,Vilain E,Burris TP,Anyane-Yeboa K,Burghes AH,Chitayat D,Chudley AE,Genel M,Gertner JM,Klingensmith GJ,Levine SN,Nakamoto J,New MI,Pagon RA,Pappas JG,Quigley CA,Rosenthal

doi

10.1086/301782

subject

Has Abstract

pub_date

1998-04-01 00:00:00

pages

855-64

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60978-1

journal_volume

62

pub_type

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