GM02548

GM02548 Fibroblast

Description:

BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3

Affected:

Yes

Sex:

Male

Age:

6 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities

Class

Repair Defective and Chromosomal Instability Syndromes

Class

Syndromes with Increased Chromosome Breakage

Cell Type

Fibroblast

Transformant

Untransformed

Race

Black/African American

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; B.S. Registry #71; increased sister chromatid exchange; increased post UV irradiation unscheduled DNA synthesis; donor subject is a compound heterozygote: one allele has a 1-bp insertion at nucleotide 1544 of the RECQL3 gene [1544insA] resulting in a frameshift and premature termination [fs:514+1-X] and a second allele has a C>T transition at nucleotide 2328 of the RECQL3 gene [2328C>T] resulting in a substitution of a termination codon for glutamine at codon 752 [Gln752Ter (Q752X)].

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis

URACIL DNA GLYCOSYLASE

Seal et al (Proc Natl Acad Sci USA 85:2339-2343,1988) reported that monoclonal antibody, 40.10.09, to normal uracil DNA glycosylase did not react with the uracil DNA glycosylase from this Bloom syndrome culture. Immunoreactivity of the denatured enzyme with antibody 40.10.09 was observed by immunoblot analysis (Vollberg et al, Carcinogenesis 8:1725-1729,1987).

Gene

RECQL3

Chromosomal Location

15q26.1

Allelic Variant 1

fs:514+1-X; BLOOM SYNDROME

Identified Mutation

1544insA

Gene

RECQL3

Chromosomal Location

15q26.1

Allelic Variant 2

Q752X; BLOOM SYNDROME

Identified Mutation

GLN752TER

Phenotypic Data

Remarks

Publications

Zita Gál, Stavroula Boukoura, Kezia Catharina Oxe, Sara Badawi, Blanca Nieto, Lea Milling Korsholm, Sille Blangstrup Geisler, Ekaterina Dulina, Anna Vestergaard Rasmussen, Christina Dahl, Wei Lv, Huixin Xu, Xiaoguang Pan, Stefanos Arampatzis, Danai-Eleni Stratou, Panagiotis Galanos, Lin Lin, Per Guldberg, Jiri Bartek, Yonglun Luo & Dorthe H. Larsen, Hyper-recombination in ribosomal DNA is driven by long-range resection-independent RAD51 accumulation Nature Communications: 2024

PubMed ID: 39242676

Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-Bömeke K, Wollnik B, Salinas G, A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease Scientific reports12:4091 2021

PubMed ID: 35260714

German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA, Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry Human mutation28:743-53 2007

PubMed ID: 17407155

Lu X, Lane DP, Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? Cell75:765-78 1993

PubMed ID: 8242748

Fukunaga N, Burrows HL, Meyers M, Schea RA, Boothman DA, Enhanced induction of tissue-type plasminogen activator in normal human cells compared to cancer-prone cells following ionizing radiation. Int J Radiat Oncol Biol Phys24(5):949-57 1992

PubMed ID: 1447036

Goldstein S, Jones RA, Hardin JW, Braunstein GD, Shmookler Reis RJ, Expression of alpha- and beta-human chorionic gonadotropin subunits in cultured human cells. In Vitro Cell Dev Biol26:857-64 1990

PubMed ID: 1699921

Seal G, Henderson EE, Sirover MA, Immunological alteration of the Bloom's syndrome uracil DNA glycosylase in Epstein-Barr virus-transformed human lymphoblastoid cells. Mutat Res243:241-8 1990

PubMed ID: 2155388

Boothman DA, Bouvard I, Hughes EN, Identification and characterization of X-ray-induced proteins in human cells. Cancer Res49:2871-8 1989

PubMed ID: 2720648

Vollberg TM, Siegler KM, Cool BL, Sirover MA, Isolation and characterization of the human uracil DNA glycosylase gene. Proc Natl Acad Sci U S A86:8693-7 1989

PubMed ID: 2813420

Kenne K, Ljungquist S, Expression of a DNA-ligase-stimulatory factor in Bloom's syndrome cell line GM1492. Eur J Biochem174:465-70 1988

PubMed ID: 3391163

Seal G, Brech K, Karp SJ, Cool BL, Sirover MA, Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. Proc Natl Acad Sci U S A85:2339-43 1988

PubMed ID: 3353381

Vollberg TM, Seal G, Sirover MA, Monoclonal antibodies detect conformational abnormality of uracil DNA glycosylase in Bloom's syndrome cells. Carcinogenesis8:1725-9 1987

PubMed ID: 3664966

Wood CM, Timme TL, Hurt MM, Brinkley BR, Ledbetter DH, Moses RE, Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. Exp Cell Res169:543-53 1987

PubMed ID: 3030788

Dehazya P, Sirover MA, Regulation of hypoxanthine DNA glycosylase in normal human and Bloom's syndrome fibroblasts. Cancer Res46:3756-61 1986

PubMed ID: 3731054

Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986

PubMed ID: 3956584

Kim S, Vollberg TM, Ro JY, Kim M, Sirover MA, O6-methylguanine methyltransferase increases before S phase in normal human cells but does not increase in hypermutable Bloom's syndrome cells. Mutat Res173:141-5 1986

PubMed ID: 3945242

Gupta PK, Sirover MA, Altered temporal expression of DNA repair in hypermutable Bloom's syndrome cells. Proc Natl Acad Sci U S A81:757-61 1984

PubMed ID: 6583674

Kennedy AR, Radner BS, Nagasawa H, Protease inhibitors reduce the frequency of spontaneous chromosome abnormalities in cells from patients with Bloom syndrome. Proc Natl Acad Sci U S A81:1827-30 1984

PubMed ID: 6584916

Boorstein R, Campisi J, Pardee AB, The study of DNA-repair defects using [125I]iododeoxycytidine incorporation as an assay for the growth of herpes simplex virus. Mutat Res112:85-95 1983

PubMed ID: 6300669

Hurt MM, Beaudet AL, Moses RE, Stable low molecular weight DNA in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A80:6987-91 1983

PubMed ID: 6196782

Parshad R, Sanford KK, Jones GM, Chromatid damage after G2 phase x-irradiation of cells from cancer-prone individuals implicates deficiency in DNA repair. Proc Natl Acad Sci U S A80:5612-6 1983

PubMed ID: 6577447

Giannelli F, Botcherby PK, Avery JA, The effect of aphidicolin on the rate of DNA replication and unscheduled DNA synthesis of Bloom syndrome and normal fibroblasts. Hum Genet60:357-9 1982

PubMed ID: 6809595

Squires S, Johnson RT, Collins AR, Initial rates of DNA incision in UV-irradiated human cells: differences between normal, xeroderma pigmentosum and tumour cells. Mutat Res95:389-404 1982

PubMed ID: 7121492

Emerit I, Cerutti P, Clastogenic activity from Bloom syndrome fibroblast cultures. Proc Natl Acad Sci U S A78:1868-72 1981

PubMed ID: 6940194

Hirschi M, Netrawali MS, Remsen JF, Cerutti PA, Formation of DNA single-strand breaks by near-ultraviolet and gamma-rays in normal and Bloom's syndrome skin fibroblasts. Cancer Res41:2003-7 1981

PubMed ID: 7214368

Warren ST, Schultz RA, Chang CC, Wade MH, Trosko JE, Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. Proc Natl Acad Sci U S A78:3133-7 1981

PubMed ID: 6942420

Zbinden I, Cerutti P, Near-ultraviolet sensitivity of skin fibroblasts of patients with Bloom's syndrome. Biochem Biophys Res Commun98:579-87 1981

PubMed ID: 7225114

Remsen JF, Repair of damage by N-acetoxy-2-acetylaminofluorene in Bloom's syndrome. Mutat Res72:151-4 1980

PubMed ID: 7442692

German J, Bloom D, Passarge E, Bloom's syndrome. VII. Progress report for 1978. Clin Genet15:361-7 1979

PubMed ID: 436333

Selsky CA, Henson P, Weichselbaum RR, Little JB, Defective reactivation of ultraviolet light-irradiated herpesvirus by a Bloom's syndrome fibroblast strain. Cancer Res39:3392-6 1979

PubMed ID: 225021

Selsky, Defective host-cell reactivation of UV-i rradiated herpes simplex virus by Bloom's syndrome skin fibroblasts. (from DNA Repair Mechanisms, Academic Press, Inc) "DNA Repair Mechanisms"1978, pp 555:3392-6 1978

PubMed ID: 225021