TY - JOUR
T1 - The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene
AU - Slaugenhaupt, Susan A.
AU - Blumenfeld, Anat
AU - Liebert, Christopher B.
AU - Mull, James
AU - Lucente, Diane E.
AU - Monahan, Marianne
AU - Breakefield, Xandra O.
AU - Maayan, Channa
AU - Parada, Luis
AU - Axelrod, Felicia B.
AU - Gusella, James F.
N1 - Funding Information:
We thank P. Crawford, H. McFarlane, M. A. Anderson, B. Jenkins, N. Lawrence, and C. Shalish for technical and tissue culture assistance. We thank the dysautonomia families and their physicians for their help and cooperation. This work was supported by a Dysautonomia Foundation grant to J.F.G., NINDS Grant NS24279 to J.F.G. and X.O.B., and NIH Grants HG00169 and HG00317 to J.F.G. and F32-HG00073 to S.A.S.
PY - 1995
Y1 - 1995
N2 - The neurotrophic tyrosine kinase receptor type 2 (NTRK2) gene is a member of the trk family of tyrosine protein kinases, which encode receptors for the nerve growth factor-related proteins known as neurotrophins. The neurotrophins and their receptors have long been considered candidate genes for familial dysautonomia (FD), a hereditary sensory neuropathy resulting from the congenital loss of both sensory and autonomic neurons. The DYS gene has recently been mapped to human chromosome 9q31-q33, and therefore we set out to determine the chromosomal localization of the candidate gene NTRK2. A mouse trkB probe was hybridized to both somatic cell hybrids containing human chromosome 9 and a human chromosome 9 flow-sorted cosmid library. The human homologue of trkB, NTRK2, was assigned to chromosome 9. To localize the NTRK2 gene further, a dinucleotide repeat polymorphism was identified within a cosmid that contains NTRK2 exon sequences. This marker was genotyped in the CEPH reference pedigrees and places the NTRK2 gene near D9S1 on the proximal long arm of human chromosome 9. The NTRK2 gene is located approximately 22 cm proximal to DYS and shows several recombinants in disease families. Therefore, the NTRK2 gene can now be excluded as a candidate gene for familial dysautonomia.
AB - The neurotrophic tyrosine kinase receptor type 2 (NTRK2) gene is a member of the trk family of tyrosine protein kinases, which encode receptors for the nerve growth factor-related proteins known as neurotrophins. The neurotrophins and their receptors have long been considered candidate genes for familial dysautonomia (FD), a hereditary sensory neuropathy resulting from the congenital loss of both sensory and autonomic neurons. The DYS gene has recently been mapped to human chromosome 9q31-q33, and therefore we set out to determine the chromosomal localization of the candidate gene NTRK2. A mouse trkB probe was hybridized to both somatic cell hybrids containing human chromosome 9 and a human chromosome 9 flow-sorted cosmid library. The human homologue of trkB, NTRK2, was assigned to chromosome 9. To localize the NTRK2 gene further, a dinucleotide repeat polymorphism was identified within a cosmid that contains NTRK2 exon sequences. This marker was genotyped in the CEPH reference pedigrees and places the NTRK2 gene near D9S1 on the proximal long arm of human chromosome 9. The NTRK2 gene is located approximately 22 cm proximal to DYS and shows several recombinants in disease families. Therefore, the NTRK2 gene can now be excluded as a candidate gene for familial dysautonomia.
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U2 - 10.1016/0888-7543(95)80019-I
DO - 10.1016/0888-7543(95)80019-I
M3 - Article
C2 - 7759111
AN - SCOPUS:0028917149
SN - 0888-7543
VL - 25
SP - 730
EP - 732
JO - Genomics
JF - Genomics
IS - 3
ER -