Table 1.
MeCP2 protein expression in tissue microarray brain samples Prefrontal cortex (BA9) samples
| Prefrontal cortex (BA9) samples | ||||||
|---|---|---|---|---|---|---|
| phenotype | sample ID | age | sex | normalized MeCP2a,b | % MeCP2hi | known genetic variants |
| control | 125 | 76 days | M | 0.52 ± 0.08 | 6.0 ± 1.6 | |
| control | 1055 | 96 days | M | 0.72 ± 0.09 | 29.4 ± 4.1 | |
| control | 1275 | 2 y | F | 1.11 ± 0.15 | 48.2 ± 2.9 | |
| control | 229 | 4 y | M | 0.90 ± 0.12 | 59.5 ± 4.0 | |
| control | 1377 | 5 y | F | 0.96 ± 0.13 | 57.3 ± 5.3 | |
| control | 3835 | 9 y | F | 1.40 ± 0.21 | 46.6 ± 4.2 | |
| control | 662 | 12 y | F | 1.02 ± 0.14 | 43.7 ± 2.5 | |
| control | 1065 | 15 y | M | 1.32 ± 0.18 | 45.2 ± 5.8 | |
| control | 812 | 18 y | F | 1.51 ± 0.18 | 58.2 ± 5.0 | |
| control | 1027 | 22 y | M | 1.126 ± 0.13 | 45.4 ± 2.4 | |
| control | 602 | 27 y | M | 0.92 ± 0.15 | 30.1 8.3 | |
| control | 1029 | 29 y | M | 1.11 ± 0.15 | 45.3 ± 1.9 | |
| control | 1136 | 33 y | F | 1.32 ± 0.15 | 52.0 ± 5.7 | |
| control | 1104 | 35 y | M | 1.13 ± 0.14 | 51.0 ± 5.2 | |
| control | 1406 | 38 y | F | 1.18 ± 0.09 | 56.8 ± 1.8 | |
| control | 1135 | 42 y | M | 1.23 ± 0.12 | 55.1 ± 2.4 | |
| control | B4192 | 46 y | M | 0.86 ± 0.11 | 35.7 ± 4.9 | |
| control | B4503 | 56 y | M | 1.15 ± 0.19 | 53.3 ± 3.0 | |
| control | 1206 | 57 y | M | 0.64 ± 0.04 | 22.6 ± 4.0 | |
| control mean (n=19)c | 1.06 ± 0.06 | 44.3 ± 3.2 | ||||
|
| ||||||
| RTT | 1238 | 1 y | M | 0.40 ± 0.04 ** | 0.5 ± 0.4 *** | MECP2 c.1154_1185del32 |
| RTT | B4687 | 8 y | F | 0.68 ± 0.09 * | 19.4 ± 2.2 *** | MECP2 p.R255X |
| RTT | B5214 | 10 y | F | 0.69 ± 0.08 * | 8.6 ± 2.1 *** | MECP2 p.R270X |
| RTT | 1815 | 18 y | F | 0.57 ± 0.07 *** | 17.1 ± 1.5 *** | MECP2 c.378-2 A>G |
| RTT | 1420 | 21 y | F | 0.67 ± 0.06 *** | 50.3 ± 2.2 | |
| RTT | 1748 | 22 y | F | 0.38 ± 0.03 *** | 6.2 ± 1.5 *** | |
| RTT | 3381 | 22 y | F | 0.83 ± 0.12 * | 13.1 ± 4.2 *** | |
| RTT | 4321 | 23 y | F | 0.50 ± 0.11 ** | 10.4 ± 3.4 *** | |
| RTT | 4312 | 24 y | F | 0.72 ± 0.11 * | 17.9 ± 4.1 ** | MECP2 p.R168X |
| RTT | B5020 | 24 y | F | 0.60 ± 0.08 ** | 15.7 ± 3.2 *** | MECP2 p.R255X |
| RTT mean (n=10) | 0.60 ± 0.05 *** | 15.9 ± 4.2 *** | ||||
|
| ||||||
| Angelman | 1824 | 4 y | M | 0.50 ± 0.03 *** | 11.6 ± 2.7 *** | 15q11-13 del |
| Angelman | 1754 | 4 y | M | 0.54 ± 0.04 *** | 23.6 ± 5.3 ** | 15q11-13 del |
| Angelman | 293 | 20 y | F | 0.61 ± 0.08 *** | 17.9 ± 3.6 *** | 15q11-13 del |
| Angelman | 1494 | 43 y | F | 0.35 ± 0.02 *** | 4.6 ± 2.2 *** | 15q11-13 del |
| Angelman mean (n=4) | 0.50 ± 0.06 *** | 14.4 ± 4.1 ** | ||||
|
| ||||||
| Prader-Willi | 865 | 43 y | F | 0.65 ± 0.08 ** | 23.5 ± 3.1 *** | 15q11-13 del |
| Prader-Willi | 1290 | 44 y | F | 0.62 ± 0.07 *** | 19.1 ± 3.4 *** | 15q11-13 UPD |
| Prader-Willi | 1447 | 45 y | M | 0.66 ± 0.12 * | 26.8 ± 7.5 * | 15q11-13 UPD |
| Prader-Willi | 1510 | 56 y | M | 0.75 ± 0.08 | 43.3 ± 3.1 | 15q11-13 del |
| Prader-Willi mean (n=4) | 0.67 ± 0.03 *** | 28.2 ± 5.3 * | ||||
|
| ||||||
| autism | 3871 | 5 y | M | 0.80 ± 0.12 | 13.0 ± 2.4 *** | |
| autism | 1174 | 7 y | F | 0.65 ± 0.09 * | 15.7 ± 3.9 *** | |
| autism | B4925 | 9 y | M | 0.71 ± 0.10 * | 30.6 ± 4.0 ** | |
| autism | 797 | 9 y | M | 0.73 ± 0.14 * | 25.7 ± 4.5 * | |
| autism | 1182 | 9 y | F | 0.35 ± 0.04 *** | 3.7 ± 0.0 *** | |
| autism | B5342 | 11 y | F | 0.46 ± 0.09 ** | 17.7 ± 2.9 ** | MECP2 g.-1398 T>C |
| autism (suspected) | 732 | 15 y | M | 0.98 ± 0.13 | 31.8 ± 1.8 *** | |
| autism | 3924 | 16 y | F | 1.15 ± 0.19 | 52.1 ± 2.6 | |
| autism | 1638 | 20 y | F | 0.77 ± 0.12 * | 43.6 ± 2.5 | MECP2 c.1035 A>G |
| autism | B5144 | 20 y | M | 0.71 ± 0.10 * | 34.6 ± 2.6 * | |
| autism | B5000 | 27 y | M | 0.69 ± 0.12 * | 11.3 ± 2.2 *** | |
| autism | B5173 | 30 y | M | 0.59 ± 0.06 *** | 46.4 ± 4.4 | |
| autism (suspected) | 967 | 32 y | M | 0.67 ± 0.08 ** | 37.9 ± 2.1 * | |
| autism | B4498 | 56 y | M | 0.32 ± 0.03 *** | 2.8 ± 0.8 *** | |
| autism mean (n=14) | 0.68 ± 0.06 ** | 26.2 ± 4.2 * | ||||
|
| ||||||
| Down syndrome | 1267 | 10 y | M | 0.88 ± 0.12 | 51.0 ± 3.5 | Trisomy 21 |
| Down syndrome | 1276 | 13 y | M | 0.87 ± 0.15 | 34.4 ± 4.9 | Trisomy 21 |
| Down syndrome | 707 | 22 y | M | 0.74 ± 0.12 * | 23.3 ± 4.5 * | Trisomy 21 |
| Down syndrome | 753 | 23 y | M | 0.73 ± 0.12 * | 48.6 ± 2.5 | Trisomy 21 |
| Down syndrome | 1258 | 44 y | F | 0.63 ± 0.08 ** | 11.1 ± 2.3 *** | Trisomy 21 |
| Down syndrome mean (n=5) | 0.77 ± 0.05 * | 33.7 ± 7.6 | ||||
|
| ||||||
| ADHD | 625 | 6 y | F | 0.49 ± 0.05 *** | 10.5 ± 1.1 *** | |
| ADHD | 1077 | 11 y | M | 0.40 ± 0.04 *** | 1.3 ± 0.4 *** | |
|
| ||||||
| Fragile X | none | 25 y | M | 0.90 ± 0.16 | 35.2 ± 4.3 | FMR1 mutation |
| Fusiform gyrus samples | ||||||
|
| ||||||
| control | 3835 | 9 y | F | 0.70 ± 0.08 | 35.4 ± 1.8 | |
| control | 1065 | 15 y | M | 0.93 ± 0.12 | 50.9 ± 2.1 | |
| control | 1027 | 22 y | M | 1.12 ± 0.15 | 43.1 ± 4.1 | |
| control | 602 | 27 y | M | 1.30 ± 0.16 | 62.3 ± 1.7 | |
| control | 1029 | 29 y | M | 1.20 ± 0.20 | 58.9 ± 3.2 | |
| control | 1104 | 35 y | M | 1.14 ± 0.16 | 57.9 ± 1.8 | |
| control | B4192 | 46 y | M | 0.67 ± 0.07 | 26.3 ± 3.8 | |
| control | B4503 | 56 y | M | 0.95 ± 0.09 | 47.4 ± 3.4 | |
| control mean (n=8) | 1.00 ± 0.08 | 47.8 ± 4.4 | ||||
|
| ||||||
| autism | B4925 | 9 y | M | 0.63 ± 0.08 | 31.6 ± 4.4 * | |
| autism | B5342 | 11 y | F | 0.42 ± 0.05 ** | 24.1 ± 4.8 * | MECP2 g.-1398 T>C |
| autism | B5144 | 20 y | M | 0.70 ± 0.06 ** | 39.7 ± 2.9 * | |
| autism | B5000 | 27 y | M | 0.56 ± 0.07 *** | 10.3 ± 3.2 *** | |
| autism | B5173 | 30 y | M | 0.44 ± 0.04 *** | 18.4 ± 1.2 *** | |
| autism | B4498 | 56 y | M | 0.27 ± 0.03 *** | 2.1 ± 5.6 *** | |
| autism mean (n=6) | 0.50 ± 0.07** | 21.0 * | ||||
a
MeCP2 protein quantification is shown as the average max pixel fluorescence of three experimental replicates (3 cores per sample per replicate) normalized to histone H1 max pixel fluorescence. Mean ± SEM is shown.
b
Asterisks indicate significantly lower compared to three closest age-matched controls, except in the case of group means, where asterisks indicate significantly lower expression in a disorder group compared to the control group.
*
P < 0.05;
**
P < 0.001;
***
P < 0.0001
c
Only age-matched controls were used