SALL3, a new member of the human spalt-like gene family, maps to 18q23.
spalt (sal) of Drosophila melanogaster is an important developmental regulator gene and encodes a zinc finger protein of unusual but characteristic structure. Two human sal-like genes have been isolated so far, SALL1 on chromosome 16q12.1 and SALL2 on chromosome 14q11.1-q12.1. Truncating mutations of SALL1 have been shown to cause Townes-Brocks syndrome and are thought to result in SALL1 haploinsufficiency. Sequence comparison of SALL1 to the related genes Msal in mouse and Xsal-1 in Xenopus laevis suggested that SALL1 was not the human orthologue of Msal and Xsal-1. By database searching and genomic cloning, we isolated an EST and a corresponding human cosmid clone, which contain coding sequence of a human gene highly similar to mouse Msal. This gene, named SALL3, was found to be expressed in different regions of human fetal brain and in different adult human tissues. The chromosomal localization of SALL3 at 18q23 suggests that haploinsufficiency of this gene might contribute to the phenotype of patients with 18q deletion syndrome.
Kohlhase
J
J
Institut für Humangenetik, Universität Göttingen, Germany. jkohlha@gwdg.de
Hausmann
S
S
Stojmenovic
G
G
Dixkens
C
C
Bink
K
K
Schulz-Schaeffer
W
W
Altmann
M
M
Engel
W
W
D000328:Adult; D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D000818:Animals; D001921:Brain / Q000196:embryology / Q000378:metabolism; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003001:Cloning, Molecular; D018507:Gene Expression Regulation, Developmental; D018398:Homeodomain Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics*; D009928:Organ Specificity / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification; D029867:Xenopus Proteins; D016335:Zinc Fingers / Q000235:genetics
D018398:Homeodomain Proteins; C484466:SALL3 protein, human; C484467:Sall3 protein, mouse; D014157:Transcription Factors; D029867:Xenopus Proteins; C103405:sal1-A protein, Xenopus; C484468:spalt protein, vertebrate