Description:
SPINOCEREBELLAR ATAXIA 1; SCA1
ATAXIN 1; ATX1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
| 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
|
Black/African American
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
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 |
ATXN1 |
| Chromosomal Location |
6p13 |
| Allelic Variant 1 |
601556.0001; SPINAL CEREBELLAR ATAXIA 1; SCA1 |
| Identified Mutation |
(CAG)n EXPANSION; The cause of spinal cerebellar ataxia 1 (SCA1; 164400) is an expansion of a (CAG)n repeat in the gene encoding ataxin-1 located on 6p (Orr et al., 1993; Banfi et al., 1994). Most unexpanded alleles have an interrupted repeat configuration, whereas a contiguous repeat (CAG)n is found in expanded alleles. The repeat instability in SCA1 is probably more complex than a simple variation in repeat number; the loss of an interruption predisposes the SCA1 (CAG)n repeat to expansion.
|
| Remarks |
Ataxia; 6 affected generations in pedigree; analysis of ATXN1 (ATX1) alleles showed normal allele with 31 CAG repeats and expanded allele with 43 repeats |
| 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 |
| |
| Lian M, Limwongse C, Yoon CS, Lee CG, Law HY, Chong SS, Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias Clinical chemistry68:794-802 2021 |
| PubMed ID: 35262663 |
| |
| Laffita-Mesa JM, Nennesmo I, Paucar M, Svenningsson P, A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS Movement disorders : official journal of the Movement Disorder Society68:794-802 2020 |
| PubMed ID: 33058338 |
| |
| Lian M, Zhao M, Phang GP, Soong YT, Yoon CS, Lee CG, Law HY, Chong SS, Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis The Journal of molecular diagnostics : JMD23:565-576 2020 |
| PubMed ID: 33618058 |
| |
| 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 |
| |
| 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 |
| |
| Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY, Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet4:221-6 1993 |
| PubMed ID: 8358429 |
| |
| Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiger SP, Beaudet AL, Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neurol23:580-4 1988 |
| PubMed ID: 3165612 |
|
|