NG05013
DNA from Fibroblast
Description:
ROTHMUND-THOMSON SYNDROME; RTS
RECQ PROTEIN-LIKE 4; RECQL4
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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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Clinical summary/Case history
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ISCN
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46,XY[19]
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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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| PDL at Freeze |
7.38 |
| Passage Frozen |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 1 |
603780.0003; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
2-BP DEL, NT2492; In cells of an Rothmund-Thomson syndrome (RTS; 268400) patient of European descent deposited in the cell bank of the National Institute of Aging (AG05013), Kitao et al. [Genomics 54: 443-452 (1998)] found compound heterozygosity for 2 mutations of the RECQL4 gene: a 2-bp deletion (designated mut-3) and a G-to-T transversion at the junction of intron 12 and exon 13 that destroyed the splicing acceptor sequence (mut-4). Both mutations were associated with a translational frameshift. Exon 13 was deleted in the case of the mut-4 allele. |
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| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 2 |
603780.0004; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
IVS12AS, G>T, -1; In cells of an Rothmund-Thomson syndrome (RTS; 268400) patient of European descent deposited in the cell bank of the National Institute of Aging (AG05013), Kitao et al. [Genomics 54: 443-452 (1998)] found compound heterozygosity for 2 mutations of the RECQL4 gene: a 2-bp deletion (designated mut-3) and a G-to-T transversion at the junction of intron 12 and exon 13 that destroyed the splicing acceptor sequence (mut-4). Both mutations were associated with a translational frameshift. Exon 13 was deleted in the case of the mut-4 allele. See also Kitao et al. [Nature Genet. 22: 82-84 (1999)]. |
| Remarks |
The donor had features of short stature, sparse hair, characteristic facies, poikiloderma, absent right thumb and hyperplastic left thumb. The family history is negative. The biopsy was taken ante-mortem in 1973 from skin on the mesial aspect of the arm. The cell morphology is fibroblastlike. The karyotype is 46,XY; normal diploid male with 14% of cells examined showing chromosome breakage. The donor subject is a compound heterozygote for two frameshift mutations in the RECQL4 gene: one allele carries a 2 bp deletion at nucleotide position 2492 (2-BP DEL, NT2492) and the second allele has a G-to-T transversion at the junction of intron 12 and exon 13 that destroys the splicing acceptor sequence (IVS12AS, G>T, -1). The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Yokoyama H, Moreno-Andres D, Astrinidis SA, Hao Y, Weberruss M, Schellhaus AK, Lue H, Haramoto Y, Gruss OJ, Antonin W, Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome Life science alliance2: 2018 |
| PubMed ID: 30718377 |
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| Schurman SH, Hedayati M, Wang Z, Singh DK, Speina E, Zhang Y, Becker K, Macris M, Sung P, Wilson DM, Croteau DL, Bohr VA, Direct and indirect roles of RECQL4 in modulating base excision repair capacity Human molecular genetics18:3470-83 2009 |
| PubMed ID: 19567405 |
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| Fan W, Luo J, RecQ4 facilitates UV-induced DNA damage repair through interaction with nucleotide excision repair factor XPA The Journal of biological chemistry18:3470-83 2008 |
| PubMed ID: 18693251 |
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| Yin J, Kwon YT, Varshavsky A, Wang W, RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Hum Mol Genet13(20):2421-30 2004 |
| PubMed ID: 15317757 |
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| Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y, Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet22:82-4 1999 |
| PubMed ID: 10319867 |
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| Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A, Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics54:443-52 1998 |
| PubMed ID: 9878247 |
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