Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
RECQ PROTEIN-LIKE 2; RECQL2
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
NIA AGING CELL REPOSITORY DNA PANEL - CHARACTERIZED MUTATIONS
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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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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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PUERTO RICAN
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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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 1 |
604611.0006; WERNER SYNDROME |
| Identified Mutation |
ARG368TER; In 1 Caucasian and 3 Japanese patients with Werner syndrome (277700), Oshima et al. [Hum. Molec. Genet. 5: 1909-1913 (1996)] first reported this mutation (1336C-T), located in exon 9 of the WRN gene, that was predicted to produce a truncated protein lacking WRN helicase function. |
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| Gene |
RECQL2 |
| Chromosomal Location |
8p12-p11.2 |
| Allelic Variant 2 |
604611.0006; WERNER SYNDROME |
| Identified Mutation |
ARG368TER; In 1 Caucasian and 3 Japanese patients with Werner syndrome (277700), Oshima et al. [Hum. Molec. Genet. 5: 1909-1913 (1996)] first reported this mutation (1336C-T), located in exon 9 of the WRN gene, that was predicted to produce a truncated protein lacking WRN helicase function. |
| Remarks |
The donor had features of diabetes, cataracts, sclerodermatous-like skin, prematurely white hair; nonhealing skin ulcers and arteriosclerotic cardiovascular disease. The culture was initiated on 5/23/80 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The culture is a mosaic with karyotype: 46,XX/47,XX,+9; unbalanced; 36%/64%. The donor subject is homozygous for a C>T transition at nucleotide 1336 in exon 9 of the RECQL2 gene (1336C>T) resulting in an amino acid change at codon 368 from arginine to a stop codon [Arg368Ter (R368X)]. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Bracci AN, Dallmann A, Ding Q, Hubisz MJ, Caballero M, Koren A, The evolution of the human DNA replication timing program Proceedings of the National Academy of Sciences of the United States of America120:e2213896120 2023 |
| PubMed ID: 36848554 |
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| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics120:e2213896120 2021 |
| PubMed ID: 35394024 |
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| Tavakoli Shirazi P, Leifert WR, Fenech MF, François M, Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome Mutation research826:47-52 2017 |
| PubMed ID: 29412869 |
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| Johnson FB, Lombard DB, Neff NF, Mastrangelo MA, Dewolf W, Ellis NA, Marciniak
RA, Yin Y, Jaenisch R, Guarente L, Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic
and meiotic cells. Cancer Res60(5):1162-7 2000 |
| PubMed ID: 10728666 |
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| Balajee AS, Machwe A, May A, Gray MD, Oshima J, Martin GM, Nehlin JO, Brosh R, Orren DK, Bohr VA, The Werner syndrome protein is involved in RNA polymerase II transcription. Mol Biol Cell10:2655-68 1999 |
| PubMed ID: 10436020 |
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| Marciniak RA, Lombard DB, Johnson FB, Guarente L, Nucleolar localization of the Werner syndrome protein in human cells. Proc Natl Acad Sci U S A95(12):6887-92 1998 |
| PubMed ID: 9618508 |
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| Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu YH,
Mulligan J, Martin GM, Schellenberg GD, Mutations in the consensus helicase domains of the Werner syndrome gene.
Werner's Syndrome Collaborative Group. Am J Hum Genet60(2):330-41 1997 |
| PubMed ID: 9012406 |
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