The reference OMIM entry for this protein is 608215

Lim homeobox gene 6; lhx6
Lhx6.1

DESCRIPTION

LIM homeodomain-containing proteins, such as LHX6, are transcriptional regulators that play major roles in pattern formation and cell type specification (Zhang et al., 2013).

CLONING

By subtraction screening for embryonic mouse brain-specific transcripts, followed by screening an embryonic day-17 (E17) mouse cDNA library, Kimura et al. (1999) cloned 2 splice variants of Lhx6, which they designated Lhx6.1a and Lhx6.1b. The variants encode deduced proteins of 363 and 348 amino acids, respectively, that differ in their C termini. Both variants contain 2 tandem LIM domains and a central homeodomain. Kimura et al. (1999) used mouse Lhx6 to design primers for PCR amplification and cloned 2 splice variants of human LHX6, which encode deduced proteins of 363 and 348 amino acids. Human and mouse LHX6 share more than 95% amino acid homology. Northern blot analysis detected high expression of Lhx6 in embryonic mouse brain, much lower expression in adult mouse brain, and no expression in any other tissue examined. RT-PCR detected peak expression of the Lhx6.1a variant at postnatal day 2.0 (P2.0), and the expression remained high in adult animals. Expression of the Lhx6.1b variant was abundant from E18.5 to P2.0 and decreased at P14.0 through adulthood. In situ hybridization revealed dynamic expression of Lhx6 during mouse brain development. At E9.5, Lhx6 was expressed in the preoptic area, the hypothalamic region, and the first branchial arch. By P1.0, expression had spread to the cortex and hippocampus. In nonneuronal tissues, Lhx6 was localized at P1.0 in the primordial upper and lower molar teeth.

MAPPING

Hartz (2013) mapped the LHX6 gene to chromosome 9q33.2 based on an alignment of the LHX6 sequence (GenBank GENBANK AB031041) with the genomic sequence (GRCh37).

GENE FUNCTION

Kimura et al. (1999) noted that the temporal expression patterns of Lhx6 and LIM domain-binding protein-1 (LDB1; 603451) were similar during mouse development. By coimmunoprecipitation and Western blot analysis of transfected COS-7 cells, they determined that both splice variants of Lhx6 interacted directly with Ldb1. Lhx6 constructs with a single LIM domain bound only slightly to Ldb1, whereas constructs with intact tandem LIM domains bound Ldb1 with much higher affinity. Furthermore, the Lhx6 construct consisting of only the tandem LIM domains interacted with Ldb1 with much higher affinity than the complete Lhx6 protein including the homeodomain. Lavdas et al. (1999) determined that the medial ganglionic eminence (MGE) gives rise to a population of early neurons that migrate to the developing cerebral cortex. These GABA-expressing neurons express Lhx6, a characteristic marker of the MGE. Gong et al. (2003) described a large-scale screen to create an atlas of CNS gene expression at the cellular level, and to provide a library of verified bacterial artificial chromosome (BAC) vectors and transgenic mouse lines that offer experimental access to CNS regions, cell classes, and pathways. They found that Lhx6 provides a marker for these migrating MGE cells, and that Lhx6 and Pde1c (602987) have tangential migratory patterns. In mice, Choi et al. (2005) found that Lhx6-immunoreactive cells constituted about 80% of neurons in the dorsal posterior portion of the medial amygdalar nucleus. Lhx6-positive neurons projected to targets in the hypothalamus implicated in reproductive behaviors through the bed nucleus of the stria ter ... More on the omim web site

Subscribe to this protein entry history

June 30, 2020: Protein entry updated
Automatic update: OMIM entry 608215 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).