Complex RNA processing of TDRKH, a novel gene encoding the putative RNA-binding tudor and KH domains

Area of Science:

• Molecular Biology
• Human Genetics

Background:

• A human expressed sequence tag (EST) with homology to the nucleotide-sensitive chloride conductance regulator (ICln) was utilized.
• The aim was to isolate a novel ICln-like gene.

Purpose of the Study:

• To identify and characterize a novel human gene using an EST probe.
• To investigate the gene's structure, expression, and chromosomal location.

Main Methods:

• cDNA library screening
• PROSITE analysis for protein domain identification
• Polymerase Chain Reaction (PCR) and Northern blot analysis for gene expression and splicing
• Radiation hybrid mapping for gene localization

Main Results:

• A 2843bp cDNA clone was isolated, encoding a 561 amino acid protein named TDRKH, featuring tudor and two KH domains.
• TDRKH exhibits alternative splicing and polyadenylation, with widespread expression in human tissues.
• An ICln pseudogene was identified within an intron of TDRKH.
• The TDRKH gene was mapped to the Epidermal Differentiation Complex (EDC) at chromosome 1q21.

Conclusions:

• The novel gene TDRKH, with RNA/DNA binding domains, was identified and characterized.
• An ICln pseudogene exists within the TDRKH gene locus.
• TDRKH is located within the Epidermal Differentiation Complex, suggesting potential roles in epithelial function.