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Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.

Abstract：

:Attachment to the plasma membrane by linkage to a glycosylphosphatidylinositol (GPI) anchor is a mode of protein expression highly conserved from protozoa to mammals. As a clinical entity, deficiency of GPI has been recognized as paroxysmal nocturnal hemoglobinuria, an acquired clonal disorder associated with somatic mutations of the X-linked PIGA gene in hematopoietic cells. We have identified a novel disease characterized by a propensity to venous thrombosis and seizures in which deficiency of GPI is inherited in an autosomal recessive manner. In two unrelated kindreds, a point mutation (c --> g) at position -270 from the start codon of PIGM, a mannosyltransferase-encoding gene, disrupts binding of the transcription factor Sp1 to its cognate promoter motif. This mutation substantially reduces transcription of PIGM and blocks mannosylation of GPI, leading to partial but severe deficiency of GPI. These findings indicate that biosynthesis of GPI is essential to maintain homeostasis of blood coagulation and neurological function.

journal_name

Nat Med

journal_title

Nature medicine

authors

Almeida AM,Murakami Y,Layton DM,Hillmen P,Sellick GS,Maeda Y,Richards S,Patterson S,Kotsianidis I,Mollica L,Crawford DH,Baker A,Ferguson M,Roberts I,Houlston R,Kinoshita T,Karadimitris A

doi

10.1038/nm1410

subject

Has Abstract

pub_date

2006-07-01 00:00:00

pages

846-51

issue

7

eissn

1078-8956

issn

1546-170X

pii

nm1410

journal_volume

12

pub_type

杂志文章

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