title: Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.
abstract: The subtelomeric region of human chromosome 4q contains the locus for facioscapulohumeral muscular dystrophy (FSHD). The FSHD mutation is a deletion within an array of 3.3-kb tandem repeats (D4Z4). The disease mechanism is unknown but is postulated to involve position effect. A closely related 3.3-kb array on chromosome 10qter, in contrast, is not associated with a disease phenotype. We show here that the 4q homology on chromosome 10 is not confined to the 3.3-kb repeats but extends both proximally (42 kb) and distally to include the telomere. We have also identified the most distal expressed gene on 10q known so far, mapping only 96 kb from the 3.3-kb repeat array. A 4q variant has also been identified; there is 92%nucleotide identity between the two 4q forms, 4qA and 4qB. The 4qter and 10qter forms show homology to other chromosome ends, including 4p, 21q, and 22q, and these regions may represent a relatively common subtelomeric domain.
authors.affiliation: Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
authors.forename: Michel
authors.initials: M
authors.lastname: van Geel
authors.forename: Morag C
authors.initials: MC
authors.lastname: Dickson
authors.forename: Amy F
authors.initials: AF
authors.lastname: Beck
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Bolland
authors.forename: Rune R
authors.initials: RR
authors.lastname: Frants
authors.forename: Silvère M
authors.initials: SM
authors.lastname: van der Maarel
authors.forename: Pieter J
authors.initials: PJ
authors.lastname: de Jong
authors.forename: Jane E
authors.initials: JE
authors.lastname: Hewitt
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10; D002894:Chromosomes, Human, Pair 4; D004247:DNA; D019143:Evolution, Molecular; D020440:Gene Duplication; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics; D020161:Physical Chromosome Mapping; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D016615:Telomere
chemical_list: D004247:DNA