PMID- 10512680
OWN - NLM
STAT- MEDLINE
DCOM- 19991109
LR  - 20071114
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 61
IP  - 1
DP  - 1999 Oct 1
TI  - The FSHD region on human chromosome 4q35 contains potential coding regions among 
      pseudogenes and a high density of repeat elements.
PG  - 55-65
AB  - The distal end of chromosome 4q contains the locus involved in
      facioscapulohumeral muscular dystrophy (FSHD1). Specific genomic deletions within
      a tandem DNA repeat (D4Z4) are associated with the disease status, but no causal 
      genes have yet been discovered. In a systematic search for genes, a 161-kb
      stretch of genomic DNA proximal to D4Z4 was sequenced, analyzed for homologies,
      and subjected to gene prediction programs. A major fraction (45%) of the
      subtelomeric region is composed of repeat sequences attributable mainly to LINE-1
      elements. Apart from the previously identified FRG1 and TUB4q sequences, several 
      additional potential coding regions were identified by analyzing the sequence
      with exon prediction programs. So far, we have been unable to demonstrate
      transcripts by RT-PCR or cDNA library hybridization. However, several
      retrotransposed pseudogenes were identified. The high density of pseudogenes and 
      repeat elements is consistent with the subtelomeric location of this region and
      explains why previous transcript identification studies have been problematic.
CI  - Copyright 1999 Academic Press.
FAU - van Geel, M
AU  - van Geel M
AD  - Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York
      14263, USA.
FAU - Heather, L J
AU  - Heather LJ
FAU - Lyle, R
AU  - Lyle R
FAU - Hewitt, J E
AU  - Hewitt JE
FAU - Frants, R R
AU  - Frants RR
FAU - de Jong, P J
AU  - de Jong PJ
LA  - eng
SI  - GENBANK/AF146191
SI  - GENBANK/U85056
GR  - 1RO1RG01165-03/RG/CSR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
SB  - IM
MH  - *Chromosomes, Human, Pair 4
MH  - Computational Biology
MH  - Exons
MH  - Gene Expression
MH  - Humans
MH  - Introns
MH  - Molecular Sequence Data
MH  - Muscular Dystrophy, Facioscapulohumeral/*genetics
MH  - *Pseudogenes
MH  - Repetitive Sequences, Nucleic Acid
MH  - Sequence Analysis, DNA
EDAT- 1999/10/08 00:00
MHDA- 1999/10/08 00:01
CRDT- 1999/10/08 00:00
PHST- 1999/10/08 00:00 [pubmed]
PHST- 1999/10/08 00:01 [medline]
PHST- 1999/10/08 00:00 [entrez]
AID - 10.1006/geno.1999.5942 [doi]
AID - S0888-7543(99)95942-6 [pii]
PST - ppublish
SO  - Genomics. 1999 Oct 1;61(1):55-65. doi: 10.1006/geno.1999.5942.