TERC is not a major gene in human neural tube defects

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; Joanna Aben; Arthur Aylsworth; Cynthia Powell; Joanne Mackey; Gordon Worley; Timothy Brei; Connie Buran; Joann Bodurtha; Kathleen Sawin; Mark S. Dias; Philip Mack; Elli Meeropol; Nicole Lasarsky; David McLone; Joy Ito; W. Jerry Oakes; Marion Walker; Paula Peterson; Bermans Iskandar

doi:10.1002/bdra.20057

TERC is not a major gene in human neural tube defects

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, Joanna Aben, Arthur Aylsworth, Cynthia Powell, Joanne Mackey, Gordon Worley, Timothy Brei, Connie Buran, Joann Bodurtha, Kathleen SawinMark S. Dias, Philip Mack, Elli Meeropol, Nicole Lasarsky, David McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson, Bermans Iskandar

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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.

Original language	English (US)
Pages (from-to)	531-533
Number of pages	3
Journal	Birth Defects Research Part A - Clinical and Molecular Teratology
Volume	70
Issue number	8
DOIs	https://doi.org/10.1002/bdra.20057
State	Published - Aug 2004

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Embryology
Developmental Biology

Access to Document

10.1002/bdra.20057

Cite this

Benz, L. P., Swift, F. E., Graham, F. L., Enterline, D. S., Melvin, E. C., Hammock, P., Gilbert, J. R., Speer, M. C., Bassuk, A. G., Kessler, J. A., George, T. M., Aben, J., Aylsworth, A., Powell, C., Mackey, J., Worley, G., Brei, T., Buran, C., Bodurtha, J., ... Iskandar, B. (2004). TERC is not a major gene in human neural tube defects. Birth Defects Research Part A - Clinical and Molecular Teratology, 70(8), 531-533. https://doi.org/10.1002/bdra.20057

@article{2e6a49d919b14d6db6c99bfb16a8e669,

title = "TERC is not a major gene in human neural tube defects",

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.",

author = "Benz, {Lisa P.} and Swift, {Frances E.} and Graham, {Felicia L.} and Enterline, {David S.} and Melvin, {Elizabeth C.} and Preston Hammock and Gilbert, {John R.} and Speer, {Marcy C.} and Bassuk, {Alexander G.} and Kessler, {John A.} and George, {Timothy M.} and Joanna Aben and Arthur Aylsworth and Cynthia Powell and Joanne Mackey and Gordon Worley and Timothy Brei and Connie Buran and Joann Bodurtha and Kathleen Sawin and Dias, {Mark S.} and Philip Mack and Elli Meeropol and Nicole Lasarsky and David McLone and Joy Ito and Oakes, {W. Jerry} and Marion Walker and Paula Peterson and Bermans Iskandar",

year = "2004",

month = aug,

doi = "10.1002/bdra.20057",

language = "English (US)",

volume = "70",

pages = "531--533",

journal = "Birth Defects Research Part A - Clinical and Molecular Teratology",

issn = "1542-0752",

publisher = "Wiley-Liss Inc.",

number = "8",

}

Benz, LP, Swift, FE, Graham, FL, Enterline, DS, Melvin, EC, Hammock, P, Gilbert, JR, Speer, MC, Bassuk, AG, Kessler, JA, George, TM, Aben, J, Aylsworth, A, Powell, C, Mackey, J, Worley, G, Brei, T, Buran, C, Bodurtha, J, Sawin, K, Dias, MS, Mack, P, Meeropol, E, Lasarsky, N, McLone, D, Ito, J, Oakes, WJ, Walker, M, Peterson, P & Iskandar, B 2004, 'TERC is not a major gene in human neural tube defects', Birth Defects Research Part A - Clinical and Molecular Teratology, vol. 70, no. 8, pp. 531-533. https://doi.org/10.1002/bdra.20057

TY - JOUR

T1 - TERC is not a major gene in human neural tube defects

AU - Benz, Lisa P.

AU - Swift, Frances E.

AU - Graham, Felicia L.

AU - Enterline, David S.

AU - Melvin, Elizabeth C.

AU - Hammock, Preston

AU - Gilbert, John R.

AU - Speer, Marcy C.

AU - Bassuk, Alexander G.

AU - Kessler, John A.

AU - George, Timothy M.

AU - Aben, Joanna

AU - Aylsworth, Arthur

AU - Powell, Cynthia

AU - Mackey, Joanne

AU - Worley, Gordon

AU - Brei, Timothy

AU - Buran, Connie

AU - Bodurtha, Joann

AU - Sawin, Kathleen

AU - Dias, Mark S.

AU - Mack, Philip

AU - Meeropol, Elli

AU - Lasarsky, Nicole

AU - McLone, David

AU - Ito, Joy

AU - Oakes, W. Jerry

AU - Walker, Marion

AU - Peterson, Paula

AU - Iskandar, Bermans

PY - 2004/8

Y1 - 2004/8

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=4444222859&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=4444222859&partnerID=8YFLogxK

U2 - 10.1002/bdra.20057

DO - 10.1002/bdra.20057

M3 - Article

C2 - 15329831

AN - SCOPUS:4444222859

SN - 1542-0752

VL - 70

SP - 531

EP - 533

JO - Birth Defects Research Part A - Clinical and Molecular Teratology

JF - Birth Defects Research Part A - Clinical and Molecular Teratology

IS - 8

ER -

TERC is not a major gene in human neural tube defects

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this