Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36.

Su YR, Klanke CA, Houseal TW, Linn SC, Burk SE, Varvil TS, Otterud BE, Shull GE, Leppert MF, Menon AG
Genomics. 1994 22 (3): 605-9

PMID: 8001971 · DOI:10.1006/geno.1994.1433

A human clone corresponding to the gene encoding anion exchanger isoform 3 (AE3) (approved gene symbol SLC2C) has been isolated and partially sequenced. Oligonucleotide primers based on this sequence were used in a polymerase chain reaction to specifically amplify a segment of the human gene from a panel of human-rodent somatic cell hybrids, allowing the assignment of AE3 to chromosome 2. To map AE3 more precisely to a cytogenetic band on chromosome 2, the AE3 cosmid was used as a probe in fluorescence in situ hybridization to human metaphase chromosomes. Fractional length measurements were made, and AE3 mapped at high resolution to the cytogenetic band 2q36. A polymorphic dinucleotide (GT/CA)n repeat marker was developed from sequences in the AE3 cosmid and typed on a subset of the CEPH families. Multipoint linkage analysis placed the AE3 gene between D2S128 and D2S126 on a genetic map of chromosome 2, corroborating the chromosomal localization of AE3 obtained by physical mapping methods.

MeSH Terms (19)

Amino Acid Sequence Animals Antiporters Base Sequence Chromosome Mapping Chromosomes, Human, Pair 2 Cloning, Molecular DNA, Complementary DNA Primers Genetic Linkage Humans In Situ Hybridization, Fluorescence Ion Transport Membrane Proteins Molecular Sequence Data Rats Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid Species Specificity

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