Table 1. Examples of disease genes differentially expressed along the human nephron.
| mRNA tag abundance
|
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Disease (gene) | Mapping | Tag | Glom | PCT | PST | MTAL | CTAL | DCT | CCD | OMCD |
| Nephrotic syndrome steroid-resistant (NPHS2, Podocin) | 1q25-q31 | CCTCACTGAA | 68 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Glomerulosclerosis, focal segmental, 1 (ACTN4) | 19q13 | ATGGCGGGGC | 21 | 1 | 2 | 2 | 5 | 2 | 4 | 7 |
| Wilms tumor, type 1 (WT1) | 11p13 | TTACAAGATA | 18 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Hereditary fructose intolerance (ALDOB)* | 9q21.3-q22.2 | AAATTTCACA | 0 | 288 | 273 | 3 | 6 | 26 | 2 | 7 |
| GTGGTGGGAA | 0 | 19 | 46 | 1 | 1 | 8 | 0 | 1 | ||
| Renal tubular acidosis, proximal (SLC4A4) | 4q21 | AACATGGTGG | 0 | 29 | 10 | 2 | 3 | 1 | 10 | 1 |
| Hypophosphatemia (SLC34A1, NPT2) | 5q35 | AGCATTGAGA | 1 | 23 | 12 | 0 | 0 | 3 | 0 | 0 |
| Fructosuria (KHK) | 2p23.3-p23.2 | CGGGTGTCCG | 0 | 19 | 12 | 1 | 0 | 0 | 0 | 0 |
| Dihydropyrimidinuria (DPYS) | 8q22 | TTCATTTTAA | 0 | 16 | 3 | 0 | 0 | 3 | 0 | 0 |
| Alkaptonuria (HGD) | 3q21-q23 | GCCAAGTACC | 0 | 2 | 14 | 0 | 0 | 1 | 1 | 1 |
| Bartter syndrome type 1 (SLC12A1)* | 15q15-q21.1 | TGAGCAATCA | 0 | 0 | 1 | 222 | 149 | 29 | 1 | 2 |
| TCAATAAATG | 0 | 0 | 0 | 7 | 4 | 3 | 0 | 0 | ||
| Bartter syndrome type 3 (CLCNKB) | 1p36 | CTGGTGGGCA | 0 | 8 | 3 | 51 | 42 | 42 | 20 | 6 |
| Hypomagnesemia, primary (CLDN16) | 3q29 | ATTGTTCTAT | 0 | 0 | 0 | 6 | 14 | 3 | 0 | 1 |
| Hypomagnesemia (FXYD2, ATP1G1) | 11q23 | TTCGCTGGAC | 0 | 50 | 44 | 115 | 83 | 156 | 7 | 7 |
| Diabetes insipidus, nephrogenic (AQP2)* | 12q12-q13 | ACACACACCA | 0 | 1 | 33 | 2 | 3 | 3 | 157 | 156 |
| GGACCCCTGG | 0 | 0 | 4 | 0 | 0 | 0 | 34 | 39 | ||
| Apparent mineralocorticoid excess (HSD11B2) | 16q22 | CCCCAAGTGT | 0 | 0 | 4 | 5 | 11 | 31 | 45 | 21 |
| Renal tubular acidosis-osteopetrosis syndrome (CA2) | 8q22 | TACCTTGGTG | 0 | 4 | 3 | 1 | 0 | 14 | 20 | 16 |
| Liddle syndrome (SCNN1G) | 16p12 | TTCCCACTTC | 0 | 1 | 1 | 0 | 0 | 3 | 8 | 4 |
Values indicate mRNA tag abundance for libraries normalized to 50,000 total tags. The gene symbol from the Human Genome Organisation nomenclature, indicated in parentheses, is eventually followed by a usual alternate symbol. See Fig. 1 legend for definitions of abbreviations.
*
This gene was detected through more than one tag.