Tubgcp5-KO Mouse

TUBGCP5, also known as tubulin gamma complex associated protein 5, is a paralog of TUBGCP4 and TUBGCP6. It is involved in centrosome formation, which is crucial for cell division and the maintenance of cell structure and function [3]. The gene is located in the 15q11.2 BP1-BP2 region, a locus associated with various neurodevelopmental disorders [3].

Individuals with the 15q11.2 BP1-BP2 microdeletion, which involves TUBGCP5 along with three other genes, may present with developmental and language delay, neurobehavioral disturbances, and psychiatric problems [1]. The TUBGCP5 gene is associated with attention-deficit hyperactivity disorder (ADHD) and compulsions, especially in Prader-Willi syndrome (PWS) patients with the larger 15q11-q13 Type I deletion [2]. A rare missense variant in TUBGCP5 was identified in a patient with primary microcephaly and mild developmental delay, suggesting its potential role in microcephaly [3]. In silico analyses showed that TUBGCP5 is associated with Prader-Willi syndrome among other neurodevelopmental disorders [4].

In conclusion, TUBGCP5 plays a significant role in centrosome formation and is implicated in multiple neurodevelopmental conditions such as ADHD, compulsions in PWS, and potentially microcephaly. Studies on TUBGCP5-related genetic variations, especially in the context of the 15q11.2 BP1-BP2 microdeletion, contribute to understanding the genetic mechanisms underlying these disorders.

References:

1. Cox, Devin M, Butler, Merlin G. 2015. The 15q11.2 BP1-BP2 microdeletion syndrome: a review. In International journal of molecular sciences, 16, 4068-82. doi:10.3390/ijms16024068. https://pubmed.ncbi.nlm.nih.gov/25689425/

2. Butler, Merlin G. 2023. Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms24054271. https://pubmed.ncbi.nlm.nih.gov/36901699/

3. Maver, Aleš, Čuturilo, Goran, Kovanda, Anja, Miletić, Aleksandra, Peterlin, Borut. 2018. Rare missense TUBGCP5 gene variant in a patient with primary microcephaly. In European journal of medical genetics, 62, 103598. doi:10.1016/j.ejmg.2018.12.003. https://pubmed.ncbi.nlm.nih.gov/30543990/

4. Rafi, Syed K, Butler, Merlin G. 2020. The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes. In International journal of molecular sciences, 21, . doi:10.3390/ijms21093296. https://pubmed.ncbi.nlm.nih.gov/32384786/