Table 1. Genes corresponding to human disease loci identified by being either commonly up- or down-regulated in three, independent mouse models of photoreceptor dystrophy.
| Affymetrix gene ID | Gene name | Gene symbol | Mouse transcript ID | Human ortholog NM | Ortholog chromosomal location | Retinal degeneration locus |
|---|---|---|---|---|---|---|
| 160901_at |
FBJ osteosarcoma oncogene |
Fos |
NM_010234 |
NM_001040059 |
14q24.3 |
LCA3 |
| 97540_f_at |
histocompatibility 2, D region locus 1 |
H2-D1 |
NM_001025208 |
NM_005516 |
6p21.3 |
TULP1/RP14 |
| 101923_at |
phospholipase A2 group VII (platelet-activating factor acetylhydrolase, plasma) |
Pla2g7 |
NM_013737 |
NM_005084 |
6p21.2-p12 |
RDS/RP7; GUCA1A, GUCA1B; BCMAD |
| 98549_at |
vitronectin |
Vtn |
NM_011707 |
NM_000638 |
17q11 |
UNC119/HRG4 |
| 98579_at |
early growth response 1 |
Egr1 |
NM_007913 |
NM_001964 |
5q31.1 |
BSMD, PDE6A |
| 92223_at |
complement component 1, q subcomponent, C chain |
C1qc |
NM_007574 |
NM_172369 |
1p36.11 |
NRL/RP27 |
| 96020_at |
complement component 1, q subcomponent, beta polypeptide |
C1qb |
NM_009777 |
NM_000491 |
1p36.3-p34.1 |
LCA9, RP32 |
| 103033_at |
complement component 4 (within H-2S) |
C4 |
NM_009780 |
NM_000592 |
6p21.3 |
TULP1/RP14 |
| 98472_at |
histocompatibility 2, T region locus 23 |
H2-T23 |
NM_010398 |
NM_005252 |
6p21.3 |
TULP1/RP14 |
| 94701_at |
phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide |
Pde6b |
NM_008806 |
NM_000283 |
4p16.3 |
PDE6B/CSNB3, MCDR2 |
| 102612_at |
neural retina leucine zipper gene |
Nrl |
NM_015810 |
NM_006177 |
14q11.1-q11.2 |
NRL/RP27 |
| 160894_at |
CCAAT/enhancer binding protein (C/EBP), delta |
Cebpd |
NM_007679 |
NM_005195 |
8p11.2-p11.1 |
CORD9 |
| 94854_g_at |
guanine nucleotide binding protein, beta 1 |
Gnb1 |
NM_008142 |
NM_002074 |
1p36.3-p34.1 |
LCA9, RP32, RD4 |
| 93120_f_at |
histocompatibility 2, K region |
H2-K |
NM_001001892 |
NM_002127 |
6p21.3 |
TULP1, RP14 |
| 98562_at |
complement component 1, q subcomponent, alpha polypeptide |
C1qa |
NM_007572 |
NM_015991 |
1p36.3-p34.1 |
LCA9, RP32 |
| 95974_at |
guanylate nucleotide binding protein 1 |
Gbp1 |
NM_008142 |
NM_002074 |
1p36.3-p34.1 |
ABCA4 |
| 103202_at |
guanylate nucleotide binding protein 3 |
Gbp3 |
NM_018734 |
NM_133263 |
1p22.2 |
ABCA4 |
| 103634_at |
interferon dependent positive acting transcription factor 3 gamma |
Isgf3g |
NM_008394 |
NM_006084 |
14q11.2 |
NRL/RP27 |
| 104669_at |
interferon regulatory factor 7 |
Irf7 |
NM_016850 |
NM_004030 |
11p15.5 |
TEAD1/AA/TCF13/ TEF1 |
| 99608_at | peroxiredoxin 2 | Prdx2 | NM_011563 | NM_005809 | 19p13.2 | R9AP |
The highlighted gene symbols (column 3) represent the mapped, but unsolved loci (column 7), the remaining genes localize to loci that have already been solved. The genes are documented with respect to the mouse gene name, symbol and mouse transcript ID (columns 2-4) and their human ortholog (column 5). Column 6 provides information about the chromosomal location of the human ortholog; column 7 lists the name(s) of the loci. Please note that in some entries in the locus column, there are multiple names given, meaning that more than one trait resides in that chromosomal location; however these may or may not be related. Column 1, the Affymetrix Gene ID; and column 3, the gene symbol; represent the common denominators for all Tables in the manuscript (Table 1 and Table 2) and Appendix 1 and Appendix 2.