Description:
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
ANDROGEN RECEPTOR; AR
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 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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Not Hispanic/Latino
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Ethnicity
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GERMAN
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 LINE assay |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
AR |
| Chromosomal Location |
Xq11-q12 |
| Allelic Variant 1 |
313700.0014; SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED |
| Identified Mutation |
(CAG)n EXPANSION; Studying 35 unrelated patients, La Spada et al. (1991) found an increased size of a polymorphic tandem CAG repeat (polyglutamine tract) in the coding region of the androgen receptor gene. These amplified repeats were found in none of 75 controls and segregated with the disease in 15 families. The association was not likely to be due to linkage disequilibrium because 11 different disease alleles were observed.
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| Gene |
AR |
| Chromosomal Location |
Xq11-q12 |
| Allelic Variant 1 |
313700.0014; SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED |
| Identified Mutation |
(CAG)n EXPANSION; Studying 35 unrelated patients, La Spada et al. (1991) found an increased size of a polymorphic tandem CAG repeat (polyglutamine tract) in the coding region of the androgen receptor gene. These amplified repeats were found in none of 75 controls and segregated with the disease in 15 families. The association was not likely to be due to linkage disequilibrium because 11 different disease alleles were observed.
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| Remarks |
Clinically affected; onset of symptoms at age 45; this subject has 51 CAG trinucleotide repeats in the first exon of the androgen receptor gene (AR)(normal range= 4-33 copies); positive family history: maternal grandfather had severe leg weakness and 3 male cousins have tested positive for SBMA (samples from family are not in repository). |
| 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 |
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| Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019 |
| PubMed ID: 31230722 |
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| Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics105:151-165 2017 |
| PubMed ID: 30503517 |
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