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NA03403 DNA from LCL

Description:

BLOOM SYNDROME; BLM
RECQ PROTEIN-LIKE 3; RECQL3

Affected:

Yes

Sex:

Male

Age:

33 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities
GeT-RM Samples
Class Repair Defective and Chromosomal Instability Syndromes
Class Syndromes with Increased Chromosome Breakage
Alternate IDs GM17361 [BLOOM SYNDROME; BLM]
Quantity 25 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
Ethnicity ASHKENAZI
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; B.S. Registry #9; birth weight = 2,000 grams; failure to thrive in infancy with vomiting and diarrhea; weight at 18 months = 3.5 kg; at age 10 years: weight = 17.3 kg (mean weight of 4 1/2 year old), height = 118 cm (mean height of 6 1/2 year old); microcephaly; congenital dwarfism; facial telangiectasias: telangiectatic erythematous spots covered the nose, the adjacent parts of the cheeks, and lower part of the forehead; bullous crusted lesions covering the vermilion of underlip; cafe-au-lait spots on right shoulder and back; normal bone age at age 10 years; photosensitivity; high-pitched voice; rectal carcinoma and basal cell carcinoma of eyelid diagnosed at age 38 years; increased sister chromatid exchange; chromosome breakage; reduced level of DNA ligase I activity; donor subject is homozygous for a 6-bp deletion/7-bp insertion [2281_2286delins7] at nucleotide 2,281 of the open reading frame of the RECQL3 gene, which results in a frameshift and a stop codon; same donor as GM03402 fibroblast.

Characterizations

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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
 
DNASE ACTIVITY Mezzina et al (Nucleic Acids Res 17:3091-3106,1989) studied DNase activity in this Bloom's syndrome culture. The results presented indicated that the DNase specific activity in crude extracts of this culture was higher than in appropriate control cell cultures.
 
DNA LIGASE I AND II 25% of normal DNA ligase I & normal DNA ligase II activity in lymphoblasts. DNA ligase I activity is more heat labile than normal (Willis and Lindahl NATURE 325:355-357,1987). Mezzina et al (Nucleic Acids Res 17:3091-3106,1989) studied DNA ligase activity in this Bloom's syndrome culture. The results presented indicated that the DNA ligase specific activity in crude extracts of this culture was higher than in control cells and that the ligase activity correlated to a major 130 kDa polypeptide. In 1989, Willis et al (Carcinogenesis 10:217-219) confirmed the observation that this Bloom's syndrome culture had an anomalously low level of DNA ligase I activity which showed abnormal heat lability.
 
MEX PHENOTYPES Willis et al. (Proc Natl Acad Sci USA 84:8016,1987) reported a Mexphenotype based upon DNA (guanine-O6)-methyltransferase assay.
 
SISTER CHROMATID EXCHANGE ANALYSIS High number of SCEs (60-80 per cell) in lymphoblast culture (Willis et al Proc Natl Acad Sci USA 84:8016-8020,1987).
 
REPAIR OF UV- OR X RAY-IRRADIATED DNA OR ALKYLATED DNA Willis et al (Carcinogenesis 10:217-219,1989) reported that this cell culture showed a hypersensitive response to the cytotoxic effects of ethyl methane sulphonate compared to a normal cell culture.
 
MUTATION VERIFICATION The gene mutation(s) in this sample have been verified by 6 laboratories.
 
Gene RECQL3
Chromosomal Location 15q26.1
Allelic Variant 1 604610.0001; BLOOM SYNDROME
Identified Mutation 6-BP DEL/7-BP INS; In 4 ostensibly unrelated persons of Jewish ancestry, Ellis et al. [Cell 83: 655 (1995)] found homozygosity for a 6-bp deletion/7-bp insertion at nucleotide 2281 of the BLM cDNA. Deletion of ATCTGA and insertion of TAGATTC caused the insertion of the novel codons for LDSR after amino acid 736, and after these codons there was a stop codon. Ellis et al. [Cell 83: 655 (1995)] concluded that a person carrying this deletion/insertion mutation was a founder of the Ashkenazi-Jewish population, and that nearly all Ashkenazi Jews with Bloom syndrome inherited the mutation identical by descent from this common ancestor.
 
Gene RECQL3
Chromosomal Location 15q26.1
Allelic Variant 2 604610.0001; BLOOM SYNDROME
Identified Mutation 6-BP DEL/7-BP INS; In 4 ostensibly unrelated persons of Jewish ancestry, Ellis et al. [Cell 83: 655 (1995)] found homozygosity for a 6-bp deletion/7-bp insertion at nucleotide 2281 of the BLM cDNA. Deletion of ATCTGA and insertion of TAGATTC caused the insertion of the novel codons for LDSR after amino acid 736, and after these codons there was a stop codon. Ellis et al. [Cell 83: 655 (1995)] concluded that a person carrying this deletion/insertion mutation was a founder of the Ashkenazi-Jewish population, and that nearly all Ashkenazi Jews with Bloom syndrome inherited the mutation identical by descent from this common ancestor.

Phenotypic Data

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Remarks Clinically affected; B.S. Registry #9; birth weight = 2,000 grams; failure to thrive in infancy with vomiting and diarrhea; weight at 18 months = 3.5 kg; at age 10 years: weight = 17.3 kg (mean weight of 4 1/2 year old), height = 118 cm (mean height of 6 1/2 year old); microcephaly; congenital dwarfism; facial telangiectasias: telangiectatic erythematous spots covered the nose, the adjacent parts of the cheeks, and lower part of the forehead; bullous crusted lesions covering the vermilion of underlip; cafe-au-lait spots on right shoulder and back; normal bone age at age 10 years; photosensitivity; high-pitched voice; rectal carcinoma and basal cell carcinoma of eyelid diagnosed at age 38 years; increased sister chromatid exchange; chromosome breakage; reduced level of DNA ligase I activity; donor subject is homozygous for a 6-bp deletion/7-bp insertion [2281_2286delins7] at nucleotide 2,281 of the open reading frame of the RECQL3 gene, which results in a frameshift and a stop codon; same donor as GM03402 fibroblast.

Publications

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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 genetics: 2021
PubMed ID: 35394024
 
Mendez-Bermudez A, Hidalgo-Bravo A, Cotton VE, Gravani A, Jeyapalan JN, Royle NJ, The roles of WRN and BLM RecQ helicases in the Alternative Lengthening of Telomeres Nucleic acids research40:10809-20 2012
PubMed ID: 22989712
 
Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009
PubMed ID: 19815695
 
Ho CC, Siu WY, Lau A, Chan WM, Arooz T, Poon RY, Stalled replication induces p53 accumulation through distinct mechanisms from DNA damage checkpoint pathways Cancer research66:2233-41 2006
PubMed ID: 16489026
 
Jack R. Edelman and Yue J. Lin, Accretion of unstable heterochromatin as the origin of double minute chromosomes: evidence from Bloom Syndrome Cytologia (Tokyo)68:75-82 2003
PubMed ID: 16489026
 
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
 
Trikka D, Fang Z, Renwick A, Jones SH, Chakraborty R, Kimmel M, Nelson DL, Complex SNP-based haplotypes in three human helicases: implications for cancer association studies. Genome Res12(4):627-39 2002
PubMed ID: 11932247
 
Pedrazzi G, Perrera C, Blaser H, Kuster P, Marra G, Davies SL, Ryu GH, Freire R, Hickson ID, Jiricny J, Stagljar I., Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1. Nucleic Acids Res29(21):4378-86 2001
PubMed ID: 11691925
 
Nicotera T, Thusu K, Dandona P, Elevated production of active oxygen in Bloom's syndrome cell lines. Cancer Res53:5104-7 1993
PubMed ID: 8221645
 
Noguiez P, Jaulin C, Praz F, Khelil M, Jeanpierre M, Viegas-Pequignot E, Amor-Gueret M, No relationship between genetic instability in Bloom's syndrome and DNA hypomethylation of some major repetitive sequences. Hum Genet92:57-60 1993
PubMed ID: 8365727
 
Mezzina M, Nardelli J, Nocentini S, Remault G, Sarasin A, DNA ligase activity in human cell lines from normal donors and Bloom's syndrome patients. Nucleic Acids Res17:3091-106 1989
PubMed ID: 2726453
 
Nicotera TM, Notaro J, Notaro S, Schumer J, Sandberg AA, Elevated superoxide dismutase in Bloom's syndrome: a genetic condition of oxidative stress. Cancer Res49:5239-43 1989
PubMed ID: 2766291
 
Willis AE, Spurr NK, Lindahl T, Concomitant reversion of the characteristic phenotypic properties of a cell line of Bloom's syndrome origin. Carcinogenesis10:217-9 1989
PubMed ID: 2910526
 
Weksberg R, Smith C, Anson-Cartwright L, Maloney K, Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. Am J Hum Genet42:816-24 1988
PubMed ID: 3163468
 
Willis, Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci USA84:8016 (1987):816-24 1987
PubMed ID: 3163468
 
Willis AE, Lindahl T, DNA ligase I deficiency in Bloom's syndrome. Nature325:355-7 1987
PubMed ID: 3808031
 
Katzenellenbogen, A contribution to Bloom's syndrome. Arch Dermatol82:609 (1960):355-7 1960
PubMed ID: 3808031

External Links

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dbSNP dbSNP ID: 10656
Gene Cards BLM
RECQL3
Gene Ontology GO:0003677 DNA binding
GO:0004003 ATP-dependent DNA helicase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0016787 hydrolase activity
GO:0019735 antimicrobial humoral response (sensu Vertebrata)
NCBI Gene Gene ID:641
NCBI GTR 210900 BLOOM SYNDROME; BLM
604610 RECQ PROTEIN-LIKE 3; RECQL3
OMIM 210900 BLOOM SYNDROME; BLM
604610 RECQ PROTEIN-LIKE 3; RECQL3
Omim Description BLOOM SYNDROME; BLM
  BS; BLS
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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