Scripps VIVO scripps research logo

  • Index
  • Log in
  • Home
  • People
  • Organizations
  • Research
  • Events
Search form

Gamma-heavy chain disease in man - genomic sequence reveals 2 noncontiguous deletions in a single gene

Academic Article
uri icon
  • Overview
  • Identity
  • Additional Document Info
  • View All
scroll to property group menus

Overview

authors

  • Alexander, A.
  • Anicito, I.
  • Buxbaum, Joel

publication date

  • October 1988

journal

  • Journal of Clinical Investigation  Journal

abstract

  • A genomic clone was isolated from a human lymphoid cell line which synthesized an NH2-terminally deleted gamma 3 heavy chain disease protein. Nucleotide sequence analysis revealed a normal sequence from 310 bp 5' to the initiator ATG through the codon for VH amino acid 14. Amino acid 15 was derived from the codon for the last J4 amino acid. Thus, the clone contained a deletion of the codons for the VH region beyond amino acid 14, as well as those for the entire D region and most of the J coding region. Some sequence abnormalities were observed in the 400 bp after the deletion. Beyond this, there was excellent homology to published J and intervening sequences, including those containing the enhancer elements. The 1,200-bp switch region was abruptly interrupted by a sequence corresponding to the 3' one-third of CH1. Thus, a second deletion eliminated the acceptor splice site at the 5' end of CH1. When splicing of the primary RNA transcript occurred, the truncated VH region was joined via the J4 donor splice site to the next available acceptor site 5' to the first hinge exon. Hence, the aberrant serum protein was the product of two deletions and a splice correction as well as postsynthetic NH2-terminal proteolysis.

subject areas

  • Amino Acid Sequence
  • Base Sequence
  • Cells, Cultured
  • Chromosome Deletion
  • DNA
  • Gene Rearrangement
  • Heavy Chain Disease
  • Humans
  • Immunoglobulin Heavy Chains
  • Immunoglobulin Variable Region
  • Immunoglobulin gamma-Chains
  • Molecular Sequence Data
  • Protein Sorting Signals
  • Sequence Homology, Nucleic Acid
scroll to property group menus

Identity

International Standard Serial Number (ISSN)

  • 0021-9738

Digital Object Identifier (DOI)

  • 10.1172/jci113722

PubMed ID

  • 3139711
scroll to property group menus

Additional Document Info

start page

  • 1244

end page

  • 1252

volume

  • 82

issue

  • 4

©2021 The Scripps Research Institute | Terms of Use | Powered by VIVO

  • About
  • Contact Us
  • Support