Short sequence repeat polymorphism in the mouse slc4al gene encoding the AE1.Cl-/HCO3- exchanger

Citation
Be. Shmukler et al., Short sequence repeat polymorphism in the mouse slc4al gene encoding the AE1.Cl-/HCO3- exchanger, DNA SEQ, 11(5), 2000, pp. 447-450
Citations number
14
Categorie Soggetti
Molecular Biology & Genetics
Journal title
DNA SEQUENCE
ISSN journal
10425179 → ACNP
Volume
11
Issue
5
Year of publication
2000
Pages
447 - 450
Database
ISI
SICI code
1042-5179(2000)11:5<447:SSRPIT>2.0.ZU;2-P
Abstract
The human AE1 anion exchanger gene SLC4A1 encodes the Cl-/HCO3-exchangers o f the erythrocyte and the Type Acid-secreting intercalated cell basolateral membrane. Mutations in SLC4A1 have been correspondingly linked with autoso mal dominant hereditary spherocytotic anemia and with both dominant and rec essive forms of distal renal tubular acidosis. Murine knockouts in the slc4 a1Ae1 gene have also been generated, and lack erythroid and renal expressio n. However, intragenic polymorphic markers for the slc4a1 gene have been un available. Here we report that a previously identified CA repeat element of intron 13 of the murine Ae1 gene exhibits strain-specific length polymorph ism.