Tubgcp5-flox Mouse

TUBGCP5, short for tubulin gamma complex associated protein 5, is a paralog of TUBGCP4 and TUBGCP6. It is involved in centrosome formation. The gene is located in the 15q11.2 BP1-BP2 region, which is associated with various neurodevelopmental processes [3].

Individuals with Prader-Willi syndrome (PWS) having a larger 15q11-q13 Type I deletion that lacks TUBGCP5 from the 15q11.2 BP1-BP2 region are more severely affected. TUBGCP5 is associated with attention-deficit hyperactivity disorder (ADHD) and compulsions, more commonly seen in PWS with the Type I deletion [1]. The 15q11.2 BP1-BP2 microdeletion involving TUBGCP5 and other genes can lead to developmental and language delay, neurobehavioral disturbances, and psychiatric problems [2]. A rare missense variant in TUBGCP5 was found in a patient with primary microcephaly, suggesting its role in microcephaly occurrence in 15q11.2 microdeletion carriers [3].

In conclusion, TUBGCP5 plays a significant role in neurodevelopment. Its involvement in centrosome formation may underlie its impact on various neurodevelopmental processes. Research on TUBGCP5, especially through studying its deletion in syndromes like PWS and the 15q11.2 microdeletion syndrome, helps understand its role in neurodevelopmental disorders such as ADHD, microcephaly, and associated behavioral problems.