TY - JOUR
T1 - An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia
AU - Christian, Susan L.
AU - McDonough, Jennifer
AU - Liu, Chun yu
AU - Shaikh, Sanober
AU - Vlamakis, Vivian
AU - Badner, Judith A.
AU - Chakravarti, Aravinda
AU - Gershon, Elliot S.
N1 - Funding Information:
We thank Jennifer Lyons for additional technical support. This work was supported in part by a seed grant to J.A.B. from the Howard Hughes Medical Institute, a Distinguished Investigator Award to E.S.G. from the National Alliance for Research on Schizophrenia and Depression (NARSAD), and a Young Investigator Award to S.L.C. from NARSAD.
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2002
Y1 - 2002
N2 - The human 13q32-q33 region has been linked to both bipolar disorder and schizophrenia. Before completion of the draft sequences, we developed an ∼ 15-Mb comprehensive map for the region extending from D13S1300 to ATA35H12. This map was assembled using publicly available mapping data and sequence-tagged site (STS)-based PCR confirmation. We then compared this map with the NCBI, Celera Genomics, and UCSC Golden Path data in February, June, and September 2001. All data sets showed gaps, misassignment of STSs, and errors in orientation and marker order. Surprisingly, the completed sequences of many bacterial artificial chromosomes (BACs) had been truncated. Of 21 gaps that were detected, 4 were present in both the NCBI and Celera databases. All gaps could be filled using 1-2 BAC clones. A total of 39 loci mapped to additional sites within the human genome, providing evidence of segmental duplications. Additionally, 61 unique cDNA clones were sequenced to increase available transcribed sequence, and 11,353 reference single-nucleotide polymorphisms (SNPs) with an average density of 1 SNP/3720 bases were identified. Overall, integration of the data from multiple sources is still needed for complete assembly of the 13q32-q33 region.
AB - The human 13q32-q33 region has been linked to both bipolar disorder and schizophrenia. Before completion of the draft sequences, we developed an ∼ 15-Mb comprehensive map for the region extending from D13S1300 to ATA35H12. This map was assembled using publicly available mapping data and sequence-tagged site (STS)-based PCR confirmation. We then compared this map with the NCBI, Celera Genomics, and UCSC Golden Path data in February, June, and September 2001. All data sets showed gaps, misassignment of STSs, and errors in orientation and marker order. Surprisingly, the completed sequences of many bacterial artificial chromosomes (BACs) had been truncated. Of 21 gaps that were detected, 4 were present in both the NCBI and Celera databases. All gaps could be filled using 1-2 BAC clones. A total of 39 loci mapped to additional sites within the human genome, providing evidence of segmental duplications. Additionally, 61 unique cDNA clones were sequenced to increase available transcribed sequence, and 11,353 reference single-nucleotide polymorphisms (SNPs) with an average density of 1 SNP/3720 bases were identified. Overall, integration of the data from multiple sources is still needed for complete assembly of the 13q32-q33 region.
KW - Bipolar disorder
KW - DNA sequence analysis
KW - Human chromosome 13
KW - Schizophrenia
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U2 - 10.1006/geno.2002.6765
DO - 10.1006/geno.2002.6765
M3 - Article
C2 - 11991713
AN - SCOPUS:0036247477
SN - 0888-7543
VL - 79
SP - 635
EP - 658
JO - Genomics
JF - Genomics
IS - 5
ER -