Description:
TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
8 |
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| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
loss of codons in ERCC2 protein; TRICHOTHIODYSTROPHY |
| Identified Mutation |
+T insertion (splice donor site of intron 15); The paternal allele contains +T insertion in the splice donor site of intron 15 leading to loss of codons 488-493 or 460-493 in the ERCC2 protein |
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| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 2 |
126340.0006; TRICHOTHIODYSTROPHY |
| Identified Mutation |
ARG112HIS; A G>A transition at nucleotide 413 results in substitution of histidine for arginine at codon 112 [Arg112His (R112H)] in the ERCC2 gene. |
| Remarks |
Contains +T insertion in the splice donor site of intron 15 of paternal allele leading to loss of codons in the ERCC2 protein; G>A transition in mat allele resulting in Arg112His (R112H) in the ERCC2 gene |
| Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum,
Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999 |
| PubMed ID: 10447254 |
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| Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett
H, Harcourt SA, Arlett CF, Lehmann AR, Xeroderma pigmentosum and trichothiodystrophy are associated with different
mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A94(16):8658-63 1997 |
| PubMed ID: 9238033 |
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| Tolmie JL, de Berker D, Dawber R, Galloway C, Gregory DW, Lehmann AR, McClure J, Pollitt RJ, Stephenson JB, Syndromes associated with trichothiodystrophy. Clin Dysmorphol3:1-14 1994 |
| PubMed ID: 8205320 |
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| King MD, Gummer CL, Stephenson JB, Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. J Med Genet21:286-9 1984 |
| PubMed ID: 6492094 |
| dbSNP |
dbSNP ID: 18503 |
| Gene Cards |
ERCC2 |
| Gene Ontology |
GO:0000287 magnesium ion binding |
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GO:0003677 DNA binding |
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GO:0004003 ATP-dependent DNA helicase activity |
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GO:0005515 protein binding |
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GO:0005524 ATP binding |
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GO:0005634 nucleus |
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GO:0005675 transcription factor TFIIH complex |
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GO:0006283 transcription-coupled nucleotide-excision repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0006366 transcription from Pol II promoter |
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GO:0006917 induction of apoptosis |
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GO:0007605 perception of sound |
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GO:0016787 hydrolase activity |
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GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
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GO:0043139 5' to 3' DNA helicase activity |
| NCBI Gene |
Gene ID:2068 |
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Gene ID:7269 |
| NCBI GTR |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 |
| OMIM |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 |
| Omim Description |
IBIDS SYNDROME, INCLUDED |
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ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED |
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TAY SYNDROME, INCLUDED |
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TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS, INCLUDED |
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TRICHOTHIODYSTROPHY; TTDICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTHRETARDATION, INCLUDED |
| Passage Frozen |
8 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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