Characterization of a human homolog (BACH1) of the mouse Bach1 gene encoding a BTB-basic leucine zipper transcription factor and its mapping to chromosome 21q22.1.

[monosomy 21]

Clinical interest in the genes on human chromosome 21 , especially with respect to Down syndrome (DS ), has provided a strong impetus for the creation of a transcript map of this chromosome . In an effort to identify new human genes on the basis of cDNA analysis , we found several cDNA clones that corresponded to chromosome 21 -specific transcripts . One of these , ha 2303 , showed strong similarity to the murine transcription factor Bach 1 . We subsequently determined the entire nucleotide sequence of this cDNA clone and found it to contain the whole coding sequence . The gene , termed BACH 1 , encodes a 736 -amino-acid polypeptide with 80 .3 % identity to the murine Bach 1 protein and contains a Cap 'n'collar (CNC )-type basic leucine zipper (bZip ) domain and a protein interaction motif , the BTB domain . Northern blot analysis revealed that BACH 1 was expressed in all tissues examined . Mapping using the NotI restriction map and the YAC contig map showed that the BACH 1 gene is located at 21 q 22 .1 between the NotI sites LA 329 (D 21 S 338 ) and LL 60 (D 21 S 389 ) and within approximately 400 kb of LA 329 . Both the prospective function and the chromosomal location suggest that this gene may be a DS candidate gene , contributing to certain DS phenotypes , and is possibly involved in certain features of monosomy 21 .

Diseases
Validation

Diseases presenting "certain ds phenotypes" symptom

monosomy 21

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