Table 1.
Panel of human diploid fibroblasts demonstrating complete nonrandom X inactivation
| Case no. | Karyotype* | Evidence of nonrandom inactivation
|
NIGMS or ref. no. | ||
|---|---|---|---|---|---|
| Cytogenetic | Methylation | Monoallelic expression | |||
| 5 | 46,X,t(X;14)(q13;q32) | Late replication | AR | FMR1, KIAA0128 | GM0073 |
| 48 | 46,X,t(X;11)(q11.1;p13) | Late replication | AR, FMR1 | KIAA0128 | GM2859A |
| 49 | 46,X,t(X;11)(q22;q13) | Late replication | AR, FMR1 | G6PD, FMR1, DXS6673E | GM3322 |
| 50 | 46,X,t(X;7)(q21;p22) | Late replcation | AR | XIST | GM1696 |
| 51 | 46,X,t(X;19)(q22;q13.3) | Late replication | FMR1 | G6PD, DXS6673E | GM0089 |
| 53 | 46,X,t(X;14)(q22;q24.3) | AR | DXS6673E | Ref. 67 | |
| 63 | 46,X,t(X;20)(p10;q10) | Late replication | AR, FMR1 | XIST, DXS6673E, KIAA0128 | GM7792 |
| 67 | 46,X,t(X;9)(q13.1;p24) | G6PD, XIST, KIAA0128 | GM0705 | ||
| 68 | 46,X,t(X;22)(q12;p11) | Late replication | AR | G6PD, DXS6673E | GM4628 |
| 86 | 46,X,t(X;11)(p21;q13) | Late replication | AR, FMR1 | XIST, ZXDA, DXS6673E | GM1695A |
| 95 | 46,X,t(X;Y)(q11;q11) | Late replication | AR, FMR1 | XIST, DXS6673E | GM2103 |
| 128 | 46,X,t(X;10)(p11.2;q24.3) | AR | GM7693 | ||
| 144 | 46,X,t(X;3)(q26;p12) | Late replication | AR | GM1533B | |
| 145 | 46,X,t(X;16)(q26;q24) | Late replication | XIST, DXS6673E | GM3884 | |
| 146 | 46,X,t(X;13)(p22jq12) | Late replication | AR | G6PD, XIST, KIAA0128 | GM2971 |
| 147 | 46,X,t(X;5)(p21.2;q35.3) | Late replication | AR | G6PD, XIST | GM5835 |
| 148 | 46,X,t(X;1)(q26;q21) | Late replication | DXS6673E | GM00097A | |
| 149 | 46,X,t(X;12)(q22;q24) | Late replication | AR, FMR1 | FMR1, ZXDA, DXS6673E | GM2621A |
| 150 | 46,X,t(X;11)(q26;q23) | Late replication | AR | DXS6673E | GM3552A |
| 155 | 46,X,t(X;21)(q11;p11) | AR, FMR1 | XIST | GM1411 | |
| 156 | 46,X,t(X;9)(q13;q34) | G6PD, DXS6673E | GM1429 | ||
| 158 | 46,X,t(X;3)(p22.1;q23) | XIST, ZXDA, DXS6673E, KIAA0128 | GM11459 | ||
| 159 | 47,XY,t(X;7)(q24;q32) | AR | GM0324 | ||
| 160 | 46,X,t(X;21)(q22.3;q11) | AR | GM8135 | ||
| 52 | 46,X,der(X)t(X;14)(q22;q24.3) | Late replication | AR | Ref. 67 | |
| 94 | 46,X,der(9)t(X;9)(q34;q12) | Late replication | AR | DXS6673E, KIAA0128 | GM1414 |
| 77 | 46,X,del(X)(q27;q27) | G6PD, DXS6673E | Ref. 68 | ||
| 87 | 46,X,del(X)(q13q22) | Late replication | AR | DXS6673E | GM3923 |
| 139 | 45,X,dic(X;22)(p11;p12) | Late replication | XIST, KIAA0128 | GM5396 | |
| 140 | 45,X,dic(X;22)(p22.1;p11.2) | Late replication | KIAA0128 | GM7149 | |
| 46 | 46,X,i(X)(q26) | Late replication | AR | DXS6673E, KIAA0128 | GM03935 |
| 47 | 46,X,i(X)(p11) | FMR1, DXS6673E, KIAA0128 | GM0735 | ||
| 90 | 46,X,i(X)(p11.21) | AR | XIST, DXS6673E, KIAA0128 | GM0088 | |
| 92 | 46,X,i(X)(q10) | XIST, DXS6673E, KIAA0128 | GM2595 | ||
| 117 | 46,X,i(X)(q22) | AR | ZXDA, DXS6673E | GM6960 | |
| 118 | 46,X,i(X)(p11.4) | Late replication | AR | XIST, ZXDA, DXS6673E | GM8944 |
| 129 | 46,X,i(X)(q28) | Late replication | XIST | GM7213 | |
| 525 | 46,X,i(X)(p11.21) | Late replication | AR | G6PD, XIST, ZXDA | Ref. 69 |
| 126 | 45,X/46,X,i(X)(p11) (60%/40%) | KIAA0128 | GM339 | ||
| 152 | 45,X/46,X,i(X)(p22) (30%/70%) | Late replication | G6PD, XIST, ZXDA, DXS6673E | GM0314 | |
Nonrandom inactivation in the cell lines listed were determined indirectly by late replication (as reported in the references listed) or by methylation assays at the androgen receptor (AR) or fragile X (FMR1) loci, and/or directly with expression assays at the XIST, G6PD, FMR1, ZXDA, DXS6673E, or KIAA0128 loci.
*
For each cell line, the relevant X chromosome portion of the karyotype is listed. Complete karyotypes are listed by the NIGMS cell repository at http://locus.umdnj.edu/nigms/.