Description:
WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED
RECQ PROTEIN-LIKE 2; RECQL2
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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. |
| |
| 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 |
LGS90610: 48 year old caucasian female. Bilateral ocular cataracts, tight atrophic skin, short stature, type II diabetes mellitus, hypogonadism, osteoporosis, soft tissue calcification, coronary artery disease, medial calcinosis. No parental consanguinity. 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 karyotype is 46,XX,t(15;20)(15pter>15q26.2::20q13.2>20qter;20pter>20q13.2::15q26.2>15qter) with 8% of the cells examined showing random chromosome loss/gain. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| 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 |
| |
| Franchitto A, Oshima J, Pichierri P, The G2-phase decatenation checkpoint is defective in Werner syndrome cells. Cancer Res63(12):3289-95 2003 |
| PubMed ID: 12810661 |
| |
| Pichierri P, Rosselli F, Franchitto A, Werner's syndrome protein is phosphorylated in an ATR/ATM-dependent manner following replication arrest and DNA damage induced during the S phase of the cell cycle Oncogene22:1491-500 2003 |
| PubMed ID: 12629512 |
| |
| Franchitto A, Pichierri P, Bloom's syndrome protein is required for correct relocalization of RAD50/MRE11/NBS1 complex after replication fork arrest. J Cell Biol157(1):19-30 2002 |
| PubMed ID: 11916980 |
| |
| Oshima J, Yu CE, Piussan C, Klein G, Jabkowski J, Balci S, Miki T, Nakura J,
Ogihara T, Ells J, Smith M, Melaragno MI, Fraccaro M, Scappaticci S, Matthews J,
Ouais S, Jarzebowicz A, Schellenberg GD, Martin GM, Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet5(12):1909-13 1996 |
| PubMed ID: 8968742 |
|
|