Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus.
The aim of this study was to develop a saturated transcript map of the region encompassing the HPC1 locus to identify the susceptibility genes involved in hereditary prostate cancer (OMIM 176807) and hyperparathyroidism-jaw tumor syndrome (OMIM 145001). We previously reported the generation of a 6-Mb BAC/PAC contig of the candidate region and employed various strategies, such as database searching, exon-trapping, direct cDNA hybridization, and sample sequencing of BACs, to identify all potential transcripts. These efforts led to the identification and precise localization on the BAC contig of 59 transcripts representing 22 known genes and 37 potential transcripts represented by ESTs and exon traps. Here we report the detailed characterization of these ESTs into full-length transcript sequences, their expression pattern in various tissues, their genomic organization, and their homology to known genes. We have also identified an Alu insertion polymorphism in the intron of one of the transcripts. Overall, data on 13 novel transcripts and the human RGS8 gene (homologue of the rat RGS8 gene) are presented in this paper. Ten of the 13 novel transcripts are expressed in prostate tissue and represent positional candidates for HPC1.
Sood
R
R
Cancer Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA. rsood@nhgri.nih.gov
Bonner
T I
TI
Makalowska
I
I
Stephan
D A
DA
Robbins
C M
CM
Connors
T D
TD
Morgenbesser
S D
SD
Su
K
K
Faruque
M U
MU
Pinkett
H
H
Graham
C
C
Baxevanis
A D
AD
Klinger
K W
KW
Landes
G M
GM
Trent
J M
JM
Carpten
J D
JD
D000595:Amino Acid Sequence; D000818:Animals; D002878:Chromosomes, Human, Pair 1; D020451:Contig Mapping; D018076:DNA, Complementary; D020224:Expressed Sequence Tags; D015870:Gene Expression; D020869:Gene Expression Profiling / Q000379:methods; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics; D007573:Jaw Neoplasms / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010282:Parathyroid Neoplasms / Q000235:genetics; D011471:Prostatic Neoplasms / Q000235:genetics*; D020710:RGS Proteins / Q000235:genetics*; D051381:Rats; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic; D012359:tRNA Methyltransferases / Q000235:genetics*
D018076:DNA, Complementary; D020710:RGS Proteins; C116924:RGS8 protein, human; C486485:Rgs8 protein, rat; C518486:TRMT1L protein, human; D012359:tRNA Methyltransferases