Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. We identified an SPS critical region of 5.6 cM on chromosome 17q22 by haplotype analysis. Putative loss-of-function mutations were found in a positional gene encoding T-box protein 4 (TBX4) in six families with SPS. TBX4 encodes a transcription factor with a strongly conserved DNA-binding T-box domain that is known to play a crucial role in lower limb development in chickens and mice. The present identification of heterozygous TBX4 mutations in SPS patients, together with the similar skeletal phenotype of animals lacking Tbx4, establish the importance of TBX4 in the developmental pathways of the lower limbs and the pelvis in humans.
Interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex.
The Tbx2/3/4/5 subfamily is one of the largest subgroupings within the T-box gene family, the members of which encode developmentally critical transcription factors. TBX4, a human member of the Tbx2/3/4/5 subfamily, has been identified and characterized from a high-throughput genomic sequence. The genomic organization of TBX4 was elucidated by computational sequence analysis, and the putative cDNA sequence was assembled. The genomic organization of TBX4 is very similar to that of TBX5, as is the situation for TBX2 and TBX3. The physical configuration of the TBX4-TBX2 cluster on human chromosome 17q21-q22 is similar to that of the TBX5-TBX3 cluster on chromosome 12q23-q24. The assembled TBX4 cDNA sequence was searched against the EST databases, and a TBX4 EST was identified.
The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. A limb is an appendage of an animal used for locomotion or grasping.
The process in which the anatomical structures of a limb are generated and organized. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin.
Evidence
1:
Inferred from Mutant PhenotypeUniProtKB
Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. We identified an SPS critical region of 5.6 cM on chromosome 17q22 by haplotype analysis. Putative loss-of-function mutations were found in a positional gene encoding T-box protein 4 (TBX4) in six families with SPS. TBX4 encodes a transcription factor with a strongly conserved DNA-binding T-box domain that is known to play a crucial role in lower limb development in chickens and mice. The present identification of heterozygous TBX4 mutations in SPS patients, together with the similar skeletal phenotype of animals lacking Tbx4, establish the importance of TBX4 in the developmental pathways of the lower limbs and the pelvis in humans.
The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax.
The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube.
The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).
The Tbx2/3/4/5 subfamily is one of the largest subgroupings within the T-box gene family, the members of which encode developmentally critical transcription factors. TBX4, a human member of the Tbx2/3/4/5 subfamily, has been identified and characterized from a high-throughput genomic sequence. The genomic organization of TBX4 was elucidated by computational sequence analysis, and the putative cDNA sequence was assembled. The genomic organization of TBX4 is very similar to that of TBX5, as is the situation for TBX2 and TBX3. The physical configuration of the TBX4-TBX2 cluster on human chromosome 17q21-q22 is similar to that of the TBX5-TBX3 cluster on chromosome 12q23-q24. The assembled TBX4 cDNA sequence was searched against the EST databases, and a TBX4 EST was identified.
The Tbx2/3/4/5 subfamily is one of the largest subgroupings within the T-box gene family, the members of which encode developmentally critical transcription factors. TBX4, a human member of the Tbx2/3/4/5 subfamily, has been identified and characterized from a high-throughput genomic sequence. The genomic organization of TBX4 was elucidated by computational sequence analysis, and the putative cDNA sequence was assembled. The genomic organization of TBX4 is very similar to that of TBX5, as is the situation for TBX2 and TBX3. The physical configuration of the TBX4-TBX2 cluster on human chromosome 17q21-q22 is similar to that of the TBX5-TBX3 cluster on chromosome 12q23-q24. The assembled TBX4 cDNA sequence was searched against the EST databases, and a TBX4 EST was identified.
Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. We identified an SPS critical region of 5.6 cM on chromosome 17q22 by haplotype analysis. Putative loss-of-function mutations were found in a positional gene encoding T-box protein 4 (TBX4) in six families with SPS. TBX4 encodes a transcription factor with a strongly conserved DNA-binding T-box domain that is known to play a crucial role in lower limb development in chickens and mice. The present identification of heterozygous TBX4 mutations in SPS patients, together with the similar skeletal phenotype of animals lacking Tbx4, establish the importance of TBX4 in the developmental pathways of the lower limbs and the pelvis in humans.
Protein involved in the transfer of genetic information from DNA to messenger RNA (mRNA) by DNA-directed RNA polymerase. In the case of some RNA viruses, protein involved in the transfer of genetic information from RNA to messenger RNA (mRNA) by RNA-directed RNA polymerase.
Protein involved in development, the process whereby a multicellular organism develops from its early immature forms, e.g., zygote, larva, embryo, into an adult.
A reference proteome is a set of protein sequences derived from a complete proteome which constitutes a defined standard for a particular user community. Reference proteomes are manually defined according to a number of criteria. They cover the proteomes of well- studied model organisms and other proteomes of interest for biomedical and biotechnological research. Reference proteomes have been selected to provide broad coverage of the tree of life, and constitute a representative cross-section of the taxonomic diversity to be found within UniProtKB.
My favorites 
My labels 
Login
