Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine-rich protein.
We initiated the present work as part of an effort to identify and characterize genes from the EST2-HMG14 region from human chromosome 21 potentially responsible for some of the Down syndrome (DS) features. Genomic sample sequencing with cosmid clone A1047 located in the ETS2-HMG14 region of chromosome 21 has led to the identification and sequencing of a novel 1080-bp cDNA. This cDNA contains a potential ORF of 867 bp predicting a 288-amino-acid protein rich in leucine with a molecular weight of 32.8 kD. Northern blot analysis and RT-PRC indicate that the expression of this novel gene is high in testis and in the human leukemic T cell line Jurkat and lower in other tissues including all fetal tissues studied. We have called to this novel gene c21-LRP (chromosome 21 leucine-rich protein) and, because of its location in the DS-2 region, it could be a candidate for some of the DS anomalies. Mapping experiments have narrowed the location of the c21-LRP gene between markers D21S343 and D21S268 from chromosome 21. Analysis of the c21-LRP protein predicts two transmembrane helices and detects several signatures and potential homologies to known proteins pointing toward several potential roles for this protein.
Institut de Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine, University of Barcelona, Casanova 143, Barcelona, 08036, Spain.
J M
JM
Vidal-Taboada
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S
Sanz
A
A
Egeo
P
P
Scartezzini
R
R
Oliva
D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D018076:DNA, Complementary / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D000090263:Leucine-Rich Repeat Proteins; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics*
D018076:DNA, Complementary; D000090263:Leucine-Rich Repeat Proteins; D011506:Proteins