An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia

Susan L. Christian, Jennifer McDonough, Chun yu Liu, Sanober Shaikh, Vivian Vlamakis, Judith A. Badner, Aravinda Chakravarti, Elliot S. Gershon

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)635-658
Number of pages24
JournalGenomics
Volume79
Issue number5
DOIs
StatePublished - 2002

Keywords

  • Bipolar disorder
  • DNA sequence analysis
  • Human chromosome 13
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics

Fingerprint

Dive into the research topics of 'An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia'. Together they form a unique fingerprint.

Cite this