High impact information on SLC4A11

• Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) [1].
• DNA sequence analysis showed a novel indel mutation, c.859_862delGAGAinsCCT (E287fsX21) in exon 8 of the SLC4A11 gene in one family [2].
• Furthermore, Br-A2 and Br-A3 from wheat and Btr1/Btr2 on chromosome 3H of barley (Hordeum vulgare L.) also were homologous suggesting that the location of major determinants of the brittle rachis trait in these species has been conserved [3].
• Recently, SLC4A11 (bicarbonate transporter 1) was shown to function as an electrogenic Na/borate cotransporter unable to transport HCO3 but involved in cell cycle control [4].
• Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney [5].

Biological context of SLC4A11

• The BTR1 gene maps to chromosome 20p12 and encodes a 100 kDa protein predominantly expressed in the kidney, salivary glands, testis, thyroid glands, and trachea [5].
• In order to see if these families had mutations in the SLC4A11 gene, we selected 11 microsatellite markers from the CHED2 candidate region and used them to genotype the families [2].
• RESULTS: Linkage and haplotype analysis placed the disease locus within a 2.2 cM (1.3 Mb) interval flanked by D20S198 and D20S889, including SLC4A11 [6].

References