Structural gene for β-nerve growth factor not defective in familial dysautonomia

X. O. Breakefield, G. Orloff, C. Castiglione, Lisa Coussens, F. B. Axelrod, A. Ullrich

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of β-nerve growth factor (β-NGF). The role of this growth factor in dysautonomia has been difficult to resolve as there is no known source of authentic human β-NGF. The availability of a cloned DNA probe for the human β-NGF gene has allowed identification of some copies of the gene (alleles) in six affected families. Alleles differ in the length of restriction endonuclease fragments that hybridize to DNA probes for the gene. In two families, affected children did not inherit the same two alleles at the β-NGF locus. Since this disease is transmitted in an autosomal recessive manner, affected children must share the same alleles at the locus causing the disease. This analysis excludes the β-NGF gene region as the cause of this neurologic disease but does not eliminate other genes involved in β-NGF action, such as those coding for processing enzymes, receptors, or other subunits of the NGF complex.

Original languageEnglish (US)
Pages (from-to)4213-4216
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Volume81
Issue number13 I
StatePublished - 1984
Externally publishedYes

Fingerprint

Familial Dysautonomia
Nerve Growth Factor
Genes
Alleles
DNA Probes
Parasympathetic Ganglia
Primary Dysautonomias
DNA Restriction Enzymes
Nervous System Diseases
Intercellular Signaling Peptides and Proteins
Neurons

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

Structural gene for β-nerve growth factor not defective in familial dysautonomia. / Breakefield, X. O.; Orloff, G.; Castiglione, C.; Coussens, Lisa; Axelrod, F. B.; Ullrich, A.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 81, No. 13 I, 1984, p. 4213-4216.

Research output: Contribution to journalArticle

Breakefield, X. O. ; Orloff, G. ; Castiglione, C. ; Coussens, Lisa ; Axelrod, F. B. ; Ullrich, A. / Structural gene for β-nerve growth factor not defective in familial dysautonomia. In: Proceedings of the National Academy of Sciences of the United States of America. 1984 ; Vol. 81, No. 13 I. pp. 4213-4216.
@article{df715d7c04e54363bc74c219cde10bf6,
title = "Structural gene for β-nerve growth factor not defective in familial dysautonomia",
abstract = "The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of β-nerve growth factor (β-NGF). The role of this growth factor in dysautonomia has been difficult to resolve as there is no known source of authentic human β-NGF. The availability of a cloned DNA probe for the human β-NGF gene has allowed identification of some copies of the gene (alleles) in six affected families. Alleles differ in the length of restriction endonuclease fragments that hybridize to DNA probes for the gene. In two families, affected children did not inherit the same two alleles at the β-NGF locus. Since this disease is transmitted in an autosomal recessive manner, affected children must share the same alleles at the locus causing the disease. This analysis excludes the β-NGF gene region as the cause of this neurologic disease but does not eliminate other genes involved in β-NGF action, such as those coding for processing enzymes, receptors, or other subunits of the NGF complex.",
author = "Breakefield, {X. O.} and G. Orloff and C. Castiglione and Lisa Coussens and Axelrod, {F. B.} and A. Ullrich",
year = "1984",
language = "English (US)",
volume = "81",
pages = "4213--4216",
journal = "Proceedings of the National Academy of Sciences of the United States of America",
issn = "0027-8424",
number = "13 I",

}

TY - JOUR

T1 - Structural gene for β-nerve growth factor not defective in familial dysautonomia

AU - Breakefield, X. O.

AU - Orloff, G.

AU - Castiglione, C.

AU - Coussens, Lisa

AU - Axelrod, F. B.

AU - Ullrich, A.

PY - 1984

Y1 - 1984

N2 - The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of β-nerve growth factor (β-NGF). The role of this growth factor in dysautonomia has been difficult to resolve as there is no known source of authentic human β-NGF. The availability of a cloned DNA probe for the human β-NGF gene has allowed identification of some copies of the gene (alleles) in six affected families. Alleles differ in the length of restriction endonuclease fragments that hybridize to DNA probes for the gene. In two families, affected children did not inherit the same two alleles at the β-NGF locus. Since this disease is transmitted in an autosomal recessive manner, affected children must share the same alleles at the locus causing the disease. This analysis excludes the β-NGF gene region as the cause of this neurologic disease but does not eliminate other genes involved in β-NGF action, such as those coding for processing enzymes, receptors, or other subunits of the NGF complex.

AB - The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of β-nerve growth factor (β-NGF). The role of this growth factor in dysautonomia has been difficult to resolve as there is no known source of authentic human β-NGF. The availability of a cloned DNA probe for the human β-NGF gene has allowed identification of some copies of the gene (alleles) in six affected families. Alleles differ in the length of restriction endonuclease fragments that hybridize to DNA probes for the gene. In two families, affected children did not inherit the same two alleles at the β-NGF locus. Since this disease is transmitted in an autosomal recessive manner, affected children must share the same alleles at the locus causing the disease. This analysis excludes the β-NGF gene region as the cause of this neurologic disease but does not eliminate other genes involved in β-NGF action, such as those coding for processing enzymes, receptors, or other subunits of the NGF complex.

UR - http://www.scopus.com/inward/record.url?scp=0021149221&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021149221&partnerID=8YFLogxK

M3 - Article

C2 - 6330750

AN - SCOPUS:0021149221

VL - 81

SP - 4213

EP - 4216

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

SN - 0027-8424

IS - 13 I

ER -