Biology Reference
In-Depth Information
Table 8.2.
Diseases/traits associated with expansions of unstable repeat sequences
Disease/trait
Gene/fragile
Protein
Repeat motif
Location of
Copy number
site
repeat
(controls, patients)
Fragile X mental retardation
FMR1
(Xq27)
RNA binding protein
CGG
5UTR
5-52,>200
(FRAXA)
Fragile X E mental retardation
FMR2
(Xq28)
Transcription factor?
CGG
5UTR
4-39, >200
(FRAXE)
Fragile site, FRAXF
(Xq28)
-
(GCCGTC)n (GCC)n
?
12-26, >900
Fragile site, FRA16A
(16p13.11)
-
CGG
?
?
Fragile site, FRA16B
(16q22.1)
-
(ATATATTATATATTA
?
?
TATCTAATAATATAT
C/A TA)n
Myotonic dystrophy
DMPK
(19q13)
Serine/threonine
CTG
3UTR
<30, 50-2000+
kinase
Friedreich ataxia
FRDA
(9q)
Frataxin
GAA
Intronic
7-34, 120-1700
Progressive myoclonus epilepsy
CSTB
(21q22)
Cystatin B
CCCCGCCCCGCG
5UTR
2-3, 50-75
Spinobulbar muscular atrophy
AR
(Xq)
Androgen receptor
CAG
Coding region
17-26, 40-52
Huntington disease
HD
(4p16.3)
Huntingtin
CAG
Coding region
<35, 40-400
Dentatorubral pallidoluysian
DRPLA
(12p)
Atrophin
CAG
Coding region
9-23, 40-100
atrophy
Spinocerebellar ataxia type 1
SCA1
(6p23)
Ataxin 1
CAG
Coding region
25-36, 40-100
Spinocerebellar ataxia type 2
SCA2
(12q24)
Ataxin 2
CAG
Coding region
15-29, 35-59
Spinocerebellar ataxia type 3
MJD
(14q)
Ataxin 3
CAG
Coding region
14-40, 68-79
(Machado-Joseph disease)
Spinocerebellar ataxia type 6
CACNA1A
Calcium channel
CAG
Coding region
4-16, 21-28
(19q13)
Spinocerebellar ataxia type 7
SCA7
(3p)
Ataxin 7
CAG
Coding region
7-17, 38-130
Oculopharyngeal muscular dystrophy
PABP2
(14q11-q13)
Poly(A)-binding
GCG
Coding region
6, 7-13
protein 2
Synpolydactyly
HOXD13
(2q)
Homeobox D13
(GCG)n(GCT)n/(GCA)n
Coding region
15, 22-29
