| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-95 |
Sentence |
denotes |
Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants. |
| T2 |
96-247 |
Sentence |
denotes |
PAX6 is a transcription factor with two DNA-binding domains (paired box and homeobox) and a proline-serine-threonine (PST)-rich transactivation domain. |
| T3 |
248-337 |
Sentence |
denotes |
PAX6 regulates eye development in animals ranging from jellyfish to Drosophila to humans. |
| T4 |
338-511 |
Sentence |
denotes |
Heterozygous mutations in the human PAX6 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis, and familial foveal dysplasia. |
| T5 |
512-645 |
Sentence |
denotes |
It is believed that the mutated allele of PAX6 produces an inactive protein and aniridia is caused due to genetic haploinsufficiency. |
| T6 |
646-880 |
Sentence |
denotes |
However, several truncation mutations have been found to occur in the C-terminal half of PAX6 in patients with Aniridia resulting in mutant proteins that retain the DNA-binding domains but have lost most of the transactivation domain. |
| T7 |
881-995 |
Sentence |
denotes |
It is not clear whether such mutants really behave as loss-of-function mutants as predicted by haploinsufficiency. |
| T8 |
996-1157 |
Sentence |
denotes |
Contrary to this theory, our data showed that these mutants are dominant-negative in transient transfection assays when they are coexpressed with wild-type PAX6. |
| T9 |
1158-1264 |
Sentence |
denotes |
We found that the dominant-negative effects result from the enhanced DNA binding ability of these mutants. |
| T10 |
1265-1447 |
Sentence |
denotes |
Kinetic studies of binding and dissociation revealed that various truncation mutants have 3-5-fold higher affinity to various DNA-binding sites when compared with the wild-type PAX6. |
| T11 |
1448-1533 |
Sentence |
denotes |
These results provide a new insight into the role of mutant PAX6 in causing aniridia. |
