Alternative titles; symbols
HGNC Approved Gene Symbol: DYNLT3
Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:37,838,836-37,847,571 (from NCBI)
In a segment of chromosome Xp21 associated with retinitis pigmentosa-3 (300029), Roux et al. (1994) studied the region surrounding a CpG island from which segments were found to hybridize to DNA of several species. Using these segments to screen human retinal and retinal pigment epithelium cDNA libraries, they isolated cDNAs for a novel gene, which they called TCTE1L. The TCTE1L cDNA encodes a deduced 116-amino acid protein that shares 50.4% sequence identity with the mouse homolog, a member of the mouse t complex, which maps to chromosome 17. Genes in the mouse t complex are involved in sperm or male germ cell differentiation and are associated with male sterility and transmission ratio distortion. Northern blot analysis detected expression of a TCTE1L 2.1-kb mRNA in fetal and adult retina, as well as in fetal brain and adult frontal cortex, lung, heart, esophagus, testis, bone marrow, and fibroblasts. Hybridization studies indicated the existence of copies of the TCTE1L gene on autosomes, which appear to be intronless, processed pseudogenes.
Roux et al. (1994) determined that the TCTE1L gene contains 5 exons.
By sequence analysis, Roux et al. (1994) excluded the TCTE1L gene as a candidate for RP3.
Roux, A.-F., Rommens, J., McDowell, C., Anson-Cartwright, L., Bell, S., Schappert, K., Fishman, G. A., Musarella, M. Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex. Hum. Molec. Genet. 3: 257-263, 1994. [PubMed: 8004092] [Full Text: https://doi.org/10.1093/hmg/3.2.257]