Table 5 of
Lupien, Mol Vis 2007;
13:1828-1841.
Table 5. Association between chromosomal location of the clones obtained from the human Müller cells subtracted cDNA library with visual pathologies
The chromosomal location of some of the human ESTs and novel Müller cells cDNAs identified in Table 3 and Table 4 correspond to known retinal pathology loci on the RetNet website.
Clones from human Müller Accession Known cells subtracted number candidate Chromosomal cDNA library (GenBank) Visual pathology gene location ---------------- --------- ----------------------------------------- --------- ----------- HMC-E42 AL109613 Recessive Stargardt disease, recessive ABCA4 1p22.1 cone-rod dystrophy HMC-F35 BF228449 Recessive retinitis pigmentosa, Leber CFH 1q31.3 congenital amaurosis HMC-Clone 92 AB07014 Dominant optic atrophy OPA1 3q29 HMC-Clone 106 AY063513 Recessive Wolfram syndrome 4q22.3 HMC-Clone 142 AC108067 Recessive Wolfram syndrome 4q22.3 HMC-C20 CK726461 Dominant Wagner disease 5q13.2 HMC-D22 CB120649 Dominant cone dystrophy GUCA1A 6p21.1 HMC-B33 CK726459 Leber congenital amaurosis 6q15 HMC-C21 CF269880 Leber congenital amaurosis 6q15 HMC-Clone 50 AC093844 Dominant cone dystrophy 6q25.1 HMC-Clone 65 CK726468 Dominant cone dystrophy 6q25.3 HMC-E8 CK726474 Recessive Refsum disease PEX1 7q21.2 HMC-B18 CK726458 Recessive cone-rod dystrophy 8p11.22 HMC-B40 CK726460 Dominant retinitis pigmentosa TTPA 8q12.3 HMC-F15 BF228449 Recessive Refsum disease, recessive optic PXMP3 8q21.13 atrophy HMC-Clone 136 CK726464 Recessive Refsum disease, recessive optic PXMP3 8q21.13 atrophy HMC-G14 CB121147 Recessive Refsum disease, recessive optic PXMP3 8q21.13 atrophy HMC-Clone 133 BQ783364 Recessive Usher syndrome, type 1f 10q21.1 HMC-C46 CK726463 Recessive Bardet-Biedl syndrome MKKS 20p12.2 HMC-Clone 42 CF269892 X-linked retinitis pigmentosa Xp11.3 HMC-F2 AA878056 Retinitis pigmentosa with myopathy Xq21.1 |