title: The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene.
abstract: In this study, we describe the molecular cloning and characterization of a Src-like adaptor protein gene embedded within the genomic organization of the human thyroglobulin (Tg) gene. This gene was identified by exon trapping on overlapping cosmids encompassing the largest Tg intron. A 2.6-kb transcript, with the highest levels of expression in fetal brain and lung, was detected on Northern blots. Two full-length cDNAs (one alternatively spliced) were isolated from a fetal brain library, both containing an open reading frame of 276 amino acids, but lacking a catalytic tyrosine kinase domain. The gene shows a high degree of cross-species similarity and appears to be transcribed in the direction opposite to Tg. This gene, designated hslap, appears to be the human ortholog of the recently described gene for the murine Src-like adaptor protein (mSLAP), a candidate intermediate in the signal-transduction pathway of the Eck receptor tyrosine kinase. Human slap is located in the candidate region for a recessive demyelinating neuropathy on chromosome 8q24, but sequence analysis failed to identify mutations, suggesting that it is not the gene for this disease.
authors.affiliation: Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands. p.h.meyerink@amc.uva.nl
authors.forename: P H
authors.initials: PH
authors.lastname: Meijerink
authors.forename: P
authors.initials: P
authors.lastname: Yanakiev
authors.forename: I
authors.initials: I
authors.lastname: Zorn
authors.forename: A J
authors.initials: AJ
authors.lastname: Grierson
authors.forename: H
authors.initials: H
authors.lastname: Bikker
authors.forename: D
authors.initials: D
authors.lastname: Dye
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
authors.forename: F
authors.initials: F
authors.lastname: Baas
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D015870:Gene Expression; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D006801:Humans; D007438:Introns; D051379:Mice; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D016392:Proto-Oncogene Proteins pp60(c-src) / Q000235:genetics*; D013045:Species Specificity; D013954:Thyroglobulin / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D017931:DNA Primers; D018076:DNA, Complementary; C490635:SLA protein, human; C095148:Sla protein, mouse; D013954:Thyroglobulin; D016392:Proto-Oncogene Proteins pp60(c-src)