title: Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32.
abstract: Usher syndrome type 1 (USH1) is an autosomal recessive, genetically heterogeneous disorder causing severe congenital deafness, retinitis pigmentosa, and vestibular dysfunction. The USHla locus located on 14q32 has been linked to the genetic markers D14S250 and D14S78. Using D14S250 and D14S78, we have isolated two nonchimeric YACs, 878g10 and 844g2, and a single BAC (135i20) and PAC (194e17) clone and have arranged them into a contig spanning over the D14S250 and D14S78 markers. The analysis of the YACs, BAC, and PAC revealed that the physical distance between D14S250 and D14S78 is less than 25 kb. Iterative cDNA library screening initiated with the EST 219670 found in the vicinity of the D14S78 marker yielded a cDNA contig. The nucleotide sequence of the cDNA encodes a protein of 717 amino acids in length, showing a high level of homology to the Echinoderm 77-kDa microtubule-associated protein (EMAP). The human homologue of Echinoderm microtubule-associated protein defines a novel human gene. We propose that the human EMAP is a strong candidate for the USH1a gene based on its genomic location and the proposed function of the protein.
authors.affiliation: Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA.
authors.forename: J D
authors.initials: JD
authors.lastname: Eudy
authors.forename: M
authors.initials: M
authors.lastname: Ma-Edmonds
authors.forename: S F
authors.initials: SF
authors.lastname: Yao
authors.forename: C B
authors.initials: CB
authors.lastname: Talmadge
authors.forename: P M
authors.initials: PM
authors.lastname: Kelley
authors.forename: M D
authors.initials: MD
authors.lastname: Weston
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
authors.forename: J
authors.initials: J
authors.lastname: Sumegi
mesh_terms: D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D003638:Deafness / Q000151:congenital / Q000235:genetics*; D004447:Echinodermata / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D012174:Retinitis Pigmentosa / Q000235:genetics; D016324:Sequence Tagged Sites; D013045:Species Specificity; D013577:Syndrome; D015837:Vestibular Diseases / Q000235:genetics
chemical_list: D018076:DNA, Complementary; C115941:EMAP protein, Strongylocentrotus purpuratus; C485471:EML2 protein, human; D005819:Genetic Markers; D008869:Microtubule-Associated Proteins