title: Comprehensive DNA copy number profile and BAC library construction of an Indian individual.
abstract: Bacterial artificial chromosomes (BACs) are used in genomic variation studies due to their capacity to carry a large insert, their high clonal stability, low rate of chimerism and ease of manipulation. In the present study, an attempt was made to create the first genomic BAC library of an anonymous Indian male (IMBL4) consisting of 100,224 clones covering the human genome more than three times. Restriction mapping of 255 BAC clones by pulse field gel electrophoresis confirmed an average insert size of 120 kb. The library was screened by PCR using SHANK3 (SH3 and multiple ankyrin repeat domains 3) and OLFM3 (olfactomedin 3) specific primers. A selection of clones was analyzed by fluorescent in situ hybridization (FISH) and sequencing. Fine mapping of copy number variable regions by array based comparative genomic hybridization identified 467 CNVRs in the IMBL4 genome. The IMBL4 BAC library represents the first cataloged Indian genome resource for applications in basic and clinical research.
authors.affiliation: Division of Biotechnology, Manipal Life Sciences Centre, Manipal University, Manipal 576104, Karnataka state, India. sanjiban.c@manipal.edu
authors.forename: Sanjiban
authors.initials: S
authors.lastname: Chakrabarty
authors.forename: Reena R
authors.initials: RR
authors.lastname: D'Souza
authors.forename: Ravishankara
authors.initials: R
authors.lastname: Bellampalli
authors.forename: Harish
authors.initials: H
authors.lastname: Rotti
authors.forename: Abdul V
authors.initials: AV
authors.lastname: Saadi
authors.forename: Puthiya M
authors.initials: PM
authors.lastname: Gopinath
authors.forename: Raviraja V
authors.initials: RV
authors.lastname: Acharya
authors.forename: Periyasamy
authors.initials: P
authors.lastname: Govindaraj
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
authors.forename: Kapaettu
authors.initials: K
authors.lastname: Satyamoorthy
mesh_terms: D002461:Cell Line, Transformed; D002874:Chromosome Mapping / Q000379:methods*; D022202:Chromosomes, Artificial, Bacterial; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D016521:Electrophoresis, Gel, Pulsed-Field; D015894:Genome, Human / Q000235:genetics*; D015698:Genomic Library; D023281:Genomics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007194:India; D008297:Male; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D015203:Reproducibility of Results; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers