Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia
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Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia. / Neesen, J; Drenckhahn, J-D; Tiede, S; Burfeind, P; Grzmil, M; Konietzko, J; Dixkens, C; Kreutzberger, J; Laccone, F; Omran, H.
In: CYTOGENET GENOME RES, Vol. 98, No. 1, 2002, p. 38-44.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia
AU - Neesen, J
AU - Drenckhahn, J-D
AU - Tiede, S
AU - Burfeind, P
AU - Grzmil, M
AU - Konietzko, J
AU - Dixkens, C
AU - Kreutzberger, J
AU - Laccone, F
AU - Omran, H
N1 - Copyright 2002 S. Karger AG, Basel
PY - 2002
Y1 - 2002
N2 - Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive disease that is caused by impaired ciliary and flagellar functions. About 50% of PCD patients show situs inversus, denoted as Kartagener syndrome. In most cases, axonemal defects in cilia and sperm tails can be demonstrated by electron microscopy, i.e. PCD patients often lack inner and/or outer dynein arms in their sperm tails and cilia, supporting the hypothesis that mutations in dynein genes may cause PCD. In order to identify novel PCD genes we have isolated the human ortholog of the murine TCTE3 gene. The human TCTE3 gene encodes a dynein light chain and shares high similarity to dynein light chains of other species. The TCTE3 gene is expressed in tissues containing cilia or flagella, it is composed of four exons and located on chromosome 6q25-->q27. To elucidate the role of TCTE3 as a candidate gene for PCD a mutational analysis of thirty-six PCD patients was performed. We detected five polymorphisms in the coding sequence and in the 5' UTR of the TCTE3 gene. In one patient a heterozygous nucleotide exchange was identified resulting in an arginine to isoleucine substitution at the amino acid level. However, this exchange was also detected in one control DNA. Our results indicate that mutations in the TCTE3 gene are not a main cause of primary ciliary dyskinesia.
AB - Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive disease that is caused by impaired ciliary and flagellar functions. About 50% of PCD patients show situs inversus, denoted as Kartagener syndrome. In most cases, axonemal defects in cilia and sperm tails can be demonstrated by electron microscopy, i.e. PCD patients often lack inner and/or outer dynein arms in their sperm tails and cilia, supporting the hypothesis that mutations in dynein genes may cause PCD. In order to identify novel PCD genes we have isolated the human ortholog of the murine TCTE3 gene. The human TCTE3 gene encodes a dynein light chain and shares high similarity to dynein light chains of other species. The TCTE3 gene is expressed in tissues containing cilia or flagella, it is composed of four exons and located on chromosome 6q25-->q27. To elucidate the role of TCTE3 as a candidate gene for PCD a mutational analysis of thirty-six PCD patients was performed. We detected five polymorphisms in the coding sequence and in the 5' UTR of the TCTE3 gene. In one patient a heterozygous nucleotide exchange was identified resulting in an arginine to isoleucine substitution at the amino acid level. However, this exchange was also detected in one control DNA. Our results indicate that mutations in the TCTE3 gene are not a main cause of primary ciliary dyskinesia.
KW - Amino Acid Sequence
KW - Animals
KW - Base Sequence
KW - Chromosome Mapping
KW - Ciliary Motility Disorders
KW - Cloning, Molecular
KW - Consanguinity
KW - Cytoplasmic Dyneins
KW - DNA Primers
KW - Genes, Recessive
KW - Humans
KW - Intracellular Signaling Peptides and Proteins
KW - Karyotyping
KW - Microtubule-Associated Proteins
KW - Molecular Sequence Data
KW - Nuclear Proteins
KW - Polymorphism, Genetic
KW - Proteins
KW - Restriction Mapping
KW - Sea Urchins
KW - Sequence Alignment
KW - Sequence Homology, Amino Acid
KW - Trout
KW - t-Complex Genome Region
KW - Journal Article
KW - Research Support, Non-U.S. Gov't
U2 - 10.1159/000068545
DO - 10.1159/000068545
M3 - SCORING: Journal article
C2 - 12584439
VL - 98
SP - 38
EP - 44
JO - CYTOGENET GENOME RES
JF - CYTOGENET GENOME RES
SN - 1424-8581
IS - 1
ER -