Lip, a human gene detected by transfection of DNA from a human liposarcoma encodes a protein with homology to regulators of small g proteins.

[pleomorphic liposarcoma]

Purpose /Method . Transfection experiments have been used to identify activated oncogenes in a wide variety of tumour types . Here we describe the use of transfection experiments utilizing DNA from a human pleomorphic liposarcoma to identify a novel gene , designated lip which maps to chromosome 19 .R esults . lip was expressed in all sarcoma cell lines examined and a wide variety of normal tissues . Sequencing of cDNAs prepared from transcripts of the normal lip gene indicates that lip is predicted to encode a 966 amino acid protein with a region of homology to proteins such as vav , dbl , lbc and ect-2 which act as GDP-GTP exchange factors for the RAS superfamily of small GTP-binding proteins , and the N-terminal 830 amino acids are identical to the recently identified gene p 115 -RhoGEF , an exchange factor for RHOA . In transfectants , lip has undergone a rearrangement which results in C-terminal truncation of the predicted LIP protein . However , we failed to detect this alteration in the primary liposarcoma used in the original transfection experiments , or in other sarcoma specimens examined .Discussion . When considered together , these observations suggest that transforming lip sequences represent an alternatively spliced form of p 115 -RhoGEF that is activated for transformation by C-terminal truncation during transfection , and is not widely involved in sarcoma development .

Diseases
Validation

Diseases presenting "alternatively spliced form" symptom

pleomorphic liposarcoma

You can validate or delete this automatically detected symptom