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TERC is not a major gene in human neural tube defects

✍ Scribed by Lisa P. Benz; Frances E. Swift; Felicia L. Graham; David S. Enterline; Elizabeth C. Melvin; Preston Hammock; John R. Gilbert; Marcy C. Speer; Alexander G. Bassuk; John A. Kessler; Timothy M. George

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
71 KB
Volume
70
Category
Article
ISSN
1542-0752

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

BACKGROUND

Neural tube defects (NTDs) are the second most common birth defects, after congenital heart defects. Telomerase, the reverse transcriptase that maintains telomere DNA, has been shown to be important for neural tube development and bilateral symmetry in the brain. In knockout mice null for the telomerase RNA component (TERC), telomere loss results in the failure of neural tube closure, primarily at the forebrain and midbrain.

METHODS

We investigated TERC for variants that may predispose to human NTDs in 477 NTD cases with a variety of phenotypic presentations.

RESULTS

Two novel single nucleotide polymorphisms were identified in the human TERC sequence but showed no association with the NTD phenotype.

CONCLUSIONS

Variants in TERC are unlikely to be a major risk factor for the most common form of human NTDs, lumbosacral myelomeningocele. Birth Defects Research (Part A), 2004. Β© 2004 Wiley‐Liss, Inc.

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