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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No Data
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| Subcollection |
Heritable Diseases |
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License Required
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Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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Family Member
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Genetic Data
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No Data
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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)]. |
| 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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