Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2.
SALL1 and SALL2 have been identified as two human homologs of the region-specific homeotic gene spalt (sal) of Drosophila, which encodes a zinc finger protein of characteristic structure. SALL1 has recently been found to be mutated in patients with Townes-Brocks syndrome (TBS, OMIM No. 107480). Here we report the isolation and mapping of another sal-like human gene, named SALL1P, on chromosome Xp11.2. This intronless gene closely resembles SALL1 but displays several mutations, suggesting that SALL1P represents a sal-related pseudogene. The high similarity of SALL1P to SALL1 is of considerable importance for mutation analysis of SALL1 in TBS.
Kohlhase
J
J
Institut für Humangenetik, Universität Göttingen, Göttingen, Germany. jkohlha@gwdg.de
Köhler
A
A
Jäckle
H
H
Engel
W
W
Stick
R
R
D000015:Abnormalities, Multiple / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D004330:Drosophila / Q000235:genetics; D005801:Genes, Homeobox; D017344:Genes, Insect; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D009154:Mutation; D011544:Pseudogenes; D012689:Sequence Homology, Nucleic Acid; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*; D016335:Zinc Fingers / Q000235:genetics*
D018076:DNA, Complementary; C104146:SALL1 protein, human; D014157:Transcription Factors