Table 4 of
Hackam, Mol Vis 2004;
10:637-649.Table 4 of
Hackam, Mol Vis 2004;
10:637-649.
Table 4. Localization of retina enriched genes identified on the microarray to retina disease critical regions
Shown for each disease region are the number of genes within the region and an example of the mouse Unigene cluster ID and the human homolog for one gene in each group. The disease intervals were obtained from the RetNet database. Additional retina enriched genes identified from the arrays that map to the critical region are listed in Appendix 1.
Genes Example
identified gene in
Symbol Disease Locus in region region Human homolog
------ ---------------------- ------------- ---------- --------- ---------------------------------------------
CORD8 recessive cone-rod 1q12-q24 23 Mm.31726 Hs.19333 expressed sequence AI838661
dystrophy
ARMD1 dominant MD, 1q25-q31 25 Mm.8256 Hs.119537 KH domain containing, RNA
age related binding, signal transduction associated 1
AXPC1 recessive ataxia, 1q31-q32 26 Mm.14198 Hs.165263 early development regulator 2
posterior column (homolog of polyhomeotic 2)
with RP
RP28 recessive RP 2p11-p16 7 Mm.41466 Hs.155418 IMAGE:5043179
BBS5 recessive Bardet-Biedl 2q31 14 Mm.29089 Hs.2853 poly(rC) binding protein 1 (Pcbp1)
syndrome
RP26 recessive RP 2q31-q33 13 Mm.18157 Hs.5306 axotrophin (Axot)
BBS3 recessive Bardet-Biedl 3p13-p12 0 Mm.103584 Hs.169331 sodium channel, voltage-gated,
syndrome type V, alpha polypeptide (Scn5a)
USH2B recessive Usher 3p24.2-p23 2 Mm.200518 Hs.1194 solute carrier family 6
syndrome, type 2;
recessive
sensorineural
deafness without RP
WFS2 recessive Wolfram 4q22-q24 9 Mm.29807 Hs.76118 ubiquitin carboxy-terminal
syndrome; dominant hydrolase L1
RP29 recessive RP 4q32-q34 12 Mm.6250 Hs.112360 prominin (Prom)
USH2C recessive Usher 5q14-q21 4 Mm.50 Hs.179882 similar to hypothetical protein
syndrome, type 2 FLJ12443 (LOC210992)
WGN1 dominant Wagner 5q13-q14 4 Mm.21064 Hs.170096 RIKEN cDNA 2900001O04 gene
disease and erosive
vitreoretinopathy
LCA5 recessive Leber 6q11-q16 9 Mm.19130 Hs.250175 RIKEN cDNA 1110059L23 gene
congenital amaurosis
MCDR1 dominant MD, 6q14-q16.2 9 Mm.8149 Hs.148496 male germ cell-associated kinase
North Carolina type;
dominant progressive
bifocal chorioretinal
atrophy
RCD1 dominant retinal-cone 6q25-q26 17 Mm.4870 Hs.12477 synaptosomal-associated protein,
dystrophy 1 91 kDa (Snap91)
CORD9 recessive cone-rod 8p11 4 Mm.142140 Hs.71346 neurofilament, medium polypeptide
dystrophy (Nfm)
RNANC recessive nonsyndromal 10q21 3 Mm.73251 Hs.301449 RIKEN cDNA 2210402G22
congenital retinal
nonattachment
EVR3 dominant familial 11p13-p12 8 Mm.20837 Hs.20478 ceroid-lipofuscinosis, neuronal 2
exudative (Cln2)
vitreoretinopathy
VRNI dominant neovascular 11q13 13 Mm.7271 Hs.323502 nuclear RNA export factor 1 homolog
inflammatory (S. cerevisiae; Nxf1)
vitreoretinopathy
LCA3 recessive Leber 14q24 7 Mm.87312 Hs.151413 glia maturation factor, beta
congenital amaurosis (Gmfb)
USH1A recessive Usher 14q32 7 Mm.57138 Hs.194756 sine oculis related homeobox 6
syndrome, French homolog (Drosophila; Six6)
MRST recessive retardation, 15q24 7 Mm.7089 Hs.50130 RIKEN full-length enriched
spasticity and retinal library, clone:3526402I12
degeneration
RP22 recessive RP 16p12.1-p12.3 2 Mm.3268 Hs.84285 RIKEN full-length enriched
library, clone:1300019E17:
ubiquitin-conjugating enzyme E2I
USH1G recessive Usher 17q24-q25 18 Mm.24092 Hs.108802 N-ethylmaleimide sensitive
syndrome factor, clone MGC:11511
RP17 dominant RP 17q22 15 Mm.20898 Hs.372446 A kinase (PRKA) anchor protein
10 (Akap10), mRNA
CORD1 cone-rod dystrophy; 18q21.1-q21.3 2 Mm.17951 Hs.103839 erythrocyte protein band
de Grouchy syndrome 4.1-like 3 (Epb4.1l3)
OPA4 dominant optic 18q12.2-q12.3 2 Mm.23943 Hs.9006 vesicle-associated membrane protein,
atrophy, Kjer type associated protein A
PRD retinal dysplasia, Xp11.3-p11.23 2 Mm.25148 Hs.183434 RIKEN cDNA 5730403E06
primary
OPA2 X-linked optic atrophy Xp11.4-p11.2 1 Mm.41982 Hs.113250 X-linked juvenile retinoschisis
protein (Xlrs1)
COD2 X-linked progressive Xq27 9 Mm.90787 Hs.381039 nerve growth factor receptor
cone dystrophy, 2 (TNFRSF16) associated protein 1 (Ngfrap1)
RP24 X-linked RP Xq26-q27 9 Mm.23458 Hs.9568 zinc finger protein 261 (Zfp261)
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