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
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)
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;
         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
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
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
EVR3     dominant familial        11p13-p12            8       Mm.20837    Hs.20478 ceroid-lipofuscinosis, neuronal 2
         exudative                                                         (Cln2)
VRNI     dominant neovascular     11q13               13       Mm.7271     Hs.323502 nuclear RNA export factor 1 homolog
         inflammatory                                                      (S. cerevisiae; Nxf1)
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
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
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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