ISSN:
1432-1211
Keywords:
Key words Adapter protein
;
SH2D2A gene
;
Alternative splicing
;
Single-nucleotide polymorphism
;
Linkage analysis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd), was isolated from a human Chromosome (Chr) 1 cosmid library (LLNL, UK HGMP). The gene spans 11 kilobases and contains nine exons and eight introns. Four alternative transcript variants were observed in activated T cells. Three single-nucleotide polymorphisms were identified within intron 2. A variable number of GA repeats was found at position –340 from the first coding ATG. Linkage analysis using this marker in eight CEPH families showed that the SH2D2A gene is located close to the D1S2624 marker on Chr 1q21–1q22. Physical mapping of a PAC and BAC contig containing the CD1 gene cluster telomeric to D1S2624 failed to identify a clone harboring the SH2D2A gene. Thus the SH2D2A gene is located centromeric to the CD1 gene cluster on Chr 1.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s002510050029
