Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity.

Abstract:

:The STM7 gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase (PtdInsP 5-kinase) that is subject to alternative splicing and developmental control. We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenesis of Friedreich's ataxia by the detection of an intronic GAA repeat expansion as the predominant mutation in affected individuals. We now report the exon-intron structure of STM7.I and primer sequences designed to facilitate full characterization, including details relating to a novel exon (STM7; exon 17) derived from the 3'-UTR of the PRKACG gene. The detection of a mutation(s) within these exons would provide additional support for the hypothesis that a defect in phosphoinositide metabolism gives rise to the disease phenotype.

journal_name

Genomics

journal_title

Genomics

authors

Pook MA,Carvajal JJ,Doudney K,Hillermann R,Chamberlain S

doi

10.1006/geno.1997.4726

subject

Has Abstract

pub_date

1997-05-15 00:00:00

pages

170-2

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(97)94726-1

journal_volume

42

pub_type

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