PMID- 10369922
OWN - NLM
STAT- MEDLINE
DCOM- 19990722
LR  - 20190831
IS  - 0093-7711 (Print)
IS  - 0093-7711 (Linking)
VI  - 49
IP  - 7-8
DP  - 1999 Jul
TI  - Genomic organization of the HSET locus and the possible association of HLA-linked
      genes with immotile cilia syndrome (ICS).
PG  - 644-52
AB  - The kinesin-related protein (HSET) gene belongs to the kinesin superfamily, the
      members of which are involved in cellular transport processes. The HSET gene
      product was previously characterized by partial cDNA sequencing. The gene is
      located on the short arm of human Chromosome 6 (6p21.3), at the centromeric end
      of the major histocompatibility complex. Here, we report the genomic structure of
      the complete HSET gene together with its flanking loci. Sequence analysis of the 
      40 kilobase (kb) cosmid clone containing the HSET gene also revealed the presence
      of several new genes not related to the kinesin superfamily. These include a 60S 
      ribosomal protein L35A-like pseudogene (rPL35A-like) on the telomeric side and a 
      polycomb-like gene (PHF1), a copper tolerance-like gene (CUTA1) and the 5' part
      of the synaptic ras-GTPase-activating protein (SynGAP) gene centromeric of HSET. 
      In addition, a complete 60S ribosomal protein L12-like (rPL12L) gene in intron 3 
      of the HSET gene was identified which appears to have an open reading frame. The 
      possible involvement of the HSET gene and a beta-tubulin gene (TUBB) in the
      pathogenesis of immotile cilia syndrome (ICS) was studied by screening two
      unrelated ICS families with microtubular defects and suspected HLA linkage for
      mutations within the HSET gene and the TUBB gene. Four single base substitutions 
      were detected in the HSET gene, and none in the TUBB gene. On the basis of these 
      data, a role of the HSET and TUBB products in the pathogenesis of ICS in the two 
      families is unlikely.
FAU - Janitz, K
AU  - Janitz K
AD  - Institut fur Immungenetik, Universitatsklinikum Charite, Humboldt Universitat zu 
      Berlin, Spandauer Damm 130, 14050 Berlin, Germany.
FAU - Wild, A
AU  - Wild A
FAU - Beck, S
AU  - Beck S
FAU - Savasta, S
AU  - Savasta S
FAU - Beluffi, G
AU  - Beluffi G
FAU - Ziegler, A
AU  - Ziegler A
FAU - Volz, A
AU  - Volz A
LA  - eng
SI  - GENBANK/AJ010479
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (DNA, Complementary)
RN  - 0 (Ribosomal Proteins)
RN  - 0 (Tubulin)
RN  - 70815-33-7 (ribosomal protein L7-L12)
RN  - EC 3.6.4.4 (Kinesin)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - Ciliary Motility Disorders/*genetics/immunology
MH  - DNA, Complementary
MH  - Female
MH  - *Genetic Linkage
MH  - HeLa Cells
MH  - Humans
MH  - Kinesin/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Pseudogenes
MH  - Ribosomal Proteins/genetics
MH  - Tubulin/genetics
EDAT- 1999/06/17 00:00
MHDA- 1999/06/17 00:01
CRDT- 1999/06/17 00:00
PHST- 1999/06/17 00:00 [pubmed]
PHST- 1999/06/17 00:01 [medline]
PHST- 1999/06/17 00:00 [entrez]
AID - 90490644.251 [pii]
AID - 10.1007/s002510050660 [doi]
PST - ppublish
SO  - Immunogenetics. 1999 Jul;49(7-8):644-52. doi: 10.1007/s002510050660.