title: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
abstract: Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by the year 2005. Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies throughout the region, but the number of genes predicted (84) suggests that this is a gene-poor region. This result may also suggest that the total number of human genes is likely to be at the lower end of published estimates. One of the most interesting aspects of this region of the genome is the presence of highly homologous, recently duplicated tracts of sequence distributed throughout the p-arm. Such duplications have implications for mapping and gene analysis as well as the predisposition to recurrent chromosomal structural rearrangements associated with genetic disease.
authors.affiliation: The Institute for Genomic Research, 9712 Medical Center Drive, Rockville, Maryland 20850, USA.
authors.forename: B J
authors.initials: BJ
authors.lastname: Loftus
authors.forename: U J
authors.initials: UJ
authors.lastname: Kim
authors.forename: V P
authors.initials: VP
authors.lastname: Sneddon
authors.forename: F
authors.initials: F
authors.lastname: Kalush
authors.forename: R
authors.initials: R
authors.lastname: Brandon
authors.forename: J
authors.initials: J
authors.lastname: Fuhrmann
authors.forename: T
authors.initials: T
authors.lastname: Mason
authors.forename: M L
authors.initials: ML
authors.lastname: Crosby
authors.forename: M
authors.initials: M
authors.lastname: Barnstead
authors.forename: L
authors.initials: L
authors.lastname: Cronin
authors.forename: A
authors.initials: A
authors.lastname: Deslattes Mays
authors.forename: Y
authors.initials: Y
authors.lastname: Cao
authors.forename: R X
authors.initials: RX
authors.lastname: Xu
authors.forename: H L
authors.initials: HL
authors.lastname: Kang
authors.forename: S
authors.initials: S
authors.lastname: Mitchell
authors.forename: E E
authors.initials: EE
authors.lastname: Eichler
authors.forename: P C
authors.initials: PC
authors.lastname: Harris
authors.forename: J C
authors.initials: JC
authors.lastname: Venter
authors.forename: M D
authors.initials: MD
authors.lastname: Adams
mesh_terms: D000818:Animals; D001483:Base Sequence; D002503:Centromere; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D020451:Contig Mapping; D016208:Databases, Factual; D020224:Expressed Sequence Tags; D020440:Gene Duplication; D005819:Genetic Markers; D006801:Humans; D008969:Molecular Sequence Data; D010448:Peptide Initiation Factors; D020161:Physical Chromosome Mapping; D007690:Polycystic Kidney Diseases / Q000235:genetics; D051381:Rats
chemical_list: D005819:Genetic Markers; D010448:Peptide Initiation Factors