PMID- 10644436
OWN - NLM
STAT- MEDLINE
DCOM- 20000302
LR  - 20191219
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 62
IP  - 3
DP  - 1999 Dec 15
TI  - FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to
      Xq22 and encodes a FNIII domain-containing protein that associates with
      microtubules.
PG  - 385-94
AB  - Opitz G/BBB syndrome (OS) is a genetically heterogeneous disorder with an
      X-linked locus and an autosomal locus linked to 22q11.2. OS affects multiple
      organ systems with often variable severity even between siblings. The clinical
      features, which include hypertelorism, cleft lip and palate, defects of cardiac
      septation, hypospadias, and anorectal anomalies, indicate an underlying
      disturbance of the developing ventral midline of the embryo. The gene responsible
      for X-linked OS, FXY/MID1, is located on the short arm of the human X chromosome 
      within Xp22.3 and encodes a protein with both an RBCC (RING finger, B-box, coiled
      coil) and a B30.2 domain. The Fxy gene in mice is also located on the X
      chromosome but spans the pseudoautosomal boundary in this species. Here we
      describe a gene closely related to FXY/MID1, called FXY2, which also maps to the 
      X chromosome within Xq22. The mouse Fxy2 gene is located on the distal part of
      the mouse X chromosome within a region syntenic to Xq22. Analysis of genes
      flanking both FXY/MID1 and FXY2 (as well as their counterparts in mouse) suggests
      that these regions may have arisen as a result of an intrachromosomal duplication
      on an ancestral X chromosome. We have also identified in both FXY2 and FXY/MID1
      proteins a conserved fibronectin type III domain located between the RBCC and
      B30.2 domains that has implications for understanding protein function. The
      FXY/MID1 protein has previously been shown to colocalize with microtubules, and
      here we show that the FXY2 protein similarly associates with microtubules in a
      manner that is dependent on the carboxy-terminal B30.2 domain.
CI  - Copyright 1999 Academic Press.
FAU - Perry, J
AU  - Perry J
AD  - Section of Gene Function and Regulation, Chester Beatty Laboratories, The
      Institute of Cancer Research, Fulham Road, London, SW3 6JB, United Kingdom.
FAU - Short, K M
AU  - Short KM
FAU - Romer, J T
AU  - Romer JT
FAU - Swift, S
AU  - Swift S
FAU - Cox, T C
AU  - Cox TC
FAU - Ashworth, A
AU  - Ashworth A
LA  - eng
SI  - GENBANK/AF196480
SI  - GENBANK/AF196481
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (MID2 protein, human)
RN  - 0 (Microtubule Proteins)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Transcription Factors)
RN  - EC 2.3.2.27 (Mid1 protein, human)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Amino Acid Sequence
MH  - Animals
MH  - Chromosome Mapping
MH  - Gene Expression
MH  - Humans
MH  - Intracellular Fluid/metabolism
MH  - Mice
MH  - *Microtubule Proteins
MH  - Microtubule-Associated Proteins/*genetics/metabolism
MH  - Microtubules/*metabolism
MH  - Molecular Sequence Data
MH  - *Nuclear Proteins
MH  - Organ Specificity
MH  - Protein Structure, Tertiary/genetics
MH  - Sequence Homology, Amino Acid
MH  - Smith-Lemli-Opitz Syndrome/*genetics
MH  - Transcription Factors/*genetics/metabolism
MH  - X Chromosome/*genetics
EDAT- 2000/01/25 09:00
MHDA- 2000/03/04 09:00
CRDT- 2000/01/25 09:00
PHST- 2000/01/25 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 2000/01/25 09:00 [entrez]
AID - 10.1006/geno.1999.6043 [doi]
AID - S0888-7543(99)96043-3 [pii]
PST - ppublish
SO  - Genomics. 1999 Dec 15;62(3):385-94. doi: 10.1006/geno.1999.6043.