PMID- 10330342
OWN - NLM
STAT- MEDLINE
DCOM- 19990624
LR  - 20210109
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 6
DP  - 1999 Jun
TI  - The spectrum of mutations in TBX3: Genotype/Phenotype relationship in
      ulnar-mammary syndrome.
PG  - 1550-62
AB  - Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb,
      apocrine-gland, tooth, hair, and genital development. Mutations that disrupt the 
      DNA-binding domain of the T-box gene, TBX3, have been demonstrated to cause UMS. 
      However, the 3' terminus of the open reading frame (ORF) of TBX3 was not
      identified, and mutations were detected in only two families with UMS.
      Furthermore, no substantial homology outside the T-box was found among TBX3 and
      its orthologues. The subsequent cloning of new TBX3 cDNAs allowed us to complete 
      the characterization of TBX3 and to identify alternatively transcribed TBX3
      transcripts, including one that interrupts the T-box. The complete ORF of TBX3 is
      predicted to encode a 723-residue protein, of which 255 amino acids are encoded
      by newly identified exons. Comparison of other T-box genes to TBX3 indicates
      regions of substantial homology outside the DNA-binding domain. Novel mutations
      have been found in all of eight newly reported families with UMS, including five 
      mutations downstream of the region encoding the T-box. This suggests that a
      domain(s) outside the T-box is highly conserved and important for the function of
      TBX3. We found no obvious phenotypic differences between those who have missense 
      mutations and those who have deletions or frameshifts.
FAU - Bamshad, M
AU  - Bamshad M
AD  - Department of Pediatrics, Eccles Institute of Human Genetics, 15 North 2030 East,
      Room 2100, University of Utah, Salt Lake City, UT 84112-5330, USA
      mike@genetics.utah.edu.
FAU - Le, T
AU  - Le T
FAU - Watkins, W S
AU  - Watkins WS
FAU - Dixon, M E
AU  - Dixon ME
FAU - Kramer, B E
AU  - Kramer BE
FAU - Roeder, A D
AU  - Roeder AD
FAU - Carey, J C
AU  - Carey JC
FAU - Root, S
AU  - Root S
FAU - Schinzel, A
AU  - Schinzel A
FAU - Van Maldergem, L
AU  - Van Maldergem L
FAU - Gardner, R J
AU  - Gardner RJ
FAU - Lin, R C
AU  - Lin RC
FAU - Seidman, C E
AU  - Seidman CE
FAU - Seidman, J G
AU  - Seidman JG
FAU - Wallerstein, R
AU  - Wallerstein R
FAU - Moran, E
AU  - Moran E
FAU - Sutphen, R
AU  - Sutphen R
FAU - Campbell, C E
AU  - Campbell CE
FAU - Jorde, L B
AU  - Jorde LB
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (DNA Primers)
RN  - 0 (RNA, Messenger)
RN  - 0 (T-Box Domain Proteins)
RN  - 0 (TBX3 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Alternative Splicing
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Breast/*abnormalities
MH  - DNA Primers
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Open Reading Frames
MH  - Pedigree
MH  - Phenotype
MH  - RNA, Messenger/genetics
MH  - Sequence Homology, Amino Acid
MH  - Syndrome
MH  - *T-Box Domain Proteins
MH  - Transcription Factors/*genetics
MH  - Ulna/*abnormalities
PMC - PMC1377898
EDAT- 1999/05/20 06:00
MHDA- 2000/03/21 09:00
CRDT- 1999/05/20 06:00
PHST- 1999/05/20 06:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/05/20 06:00 [entrez]
AID - S0002-9297(07)63657-X [pii]
AID - 10.1086/302417 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Jun;64(6):1550-62. doi: 10.1086/302417.