TY - JOUR
T1 - X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase
AU - Andrew Nesbit, M.
AU - Bowl, Michael R.
AU - Harding, Brian
AU - Schlessinger, David
AU - Whyte, Michael P.
AU - Thakker, Rajesh V.
N1 - Funding Information:
M. Andrew Nesbit, Michael Bowl, Brian Harding, and Rajesh Thakker (University of Oxford) are supported by the Medical Research Council (MRC) UK. Michael Whyte (Washington University School of Medicine and Shriners Hospitals for Children) is supported by grants from Shriners Hospitals for Children, the National Institutes of Health (HD33013), and The Clark and Mildred Cox Inherited Metabolic Bone Disease Research Fund. Michael Bowl (University of Oxford) was an MRC Ph.D. student.
PY - 2004/12
Y1 - 2004/12
N2 - X-linked hypoparathyroidism (HPT) has been mapped to a 988-kb region on chromosome Xq27 that contains three genes, MCF2/DBL, SOX3, and U7snRNA homologue, and a partial cDNA, AS6. We isolated the full-length AS6 cDNA, determined its genomic organization, and sought for abnormalities in HPT patients. AS6 was identified as the 3′ UTR of ATP11C, a novel member of the P-type ATPases, which consists of 31 exons with alternative transcripts. The colocalization of ATP11C with SOX3 and MCF2/DBL on Xq27 mirrors that of ATP11A with SOX1 and MCF2L on 13q34 and ATP11B with SOX2 on 3q26. These colocalizations are evolutionarily conserved in mouse, and analyses indicate that SOX2 divergence likely occurred before the separation of SOX1 and SOX3. Analyses of ATP11C, MCF2, SOX3, and U7snRNA in HPT patients did not reveal mutations, implicating regulatory changes or mutation of an as yet unidentified gene in the etiology of X-linked hypoparathyroidism.
AB - X-linked hypoparathyroidism (HPT) has been mapped to a 988-kb region on chromosome Xq27 that contains three genes, MCF2/DBL, SOX3, and U7snRNA homologue, and a partial cDNA, AS6. We isolated the full-length AS6 cDNA, determined its genomic organization, and sought for abnormalities in HPT patients. AS6 was identified as the 3′ UTR of ATP11C, a novel member of the P-type ATPases, which consists of 31 exons with alternative transcripts. The colocalization of ATP11C with SOX3 and MCF2/DBL on Xq27 mirrors that of ATP11A with SOX1 and MCF2L on 13q34 and ATP11B with SOX2 on 3q26. These colocalizations are evolutionarily conserved in mouse, and analyses indicate that SOX2 divergence likely occurred before the separation of SOX1 and SOX3. Analyses of ATP11C, MCF2, SOX3, and U7snRNA in HPT patients did not reveal mutations, implicating regulatory changes or mutation of an as yet unidentified gene in the etiology of X-linked hypoparathyroidism.
KW - Adenosinetriphosphatase
KW - Guanine nucleotide exchange factor
KW - High-mobility group box protein
KW - Phylogeny
KW - snRNA
UR - http://www.scopus.com/inward/record.url?scp=7944222803&partnerID=8YFLogxK
U2 - 10.1016/j.ygeno.2004.08.003
DO - 10.1016/j.ygeno.2004.08.003
M3 - Article
C2 - 15533723
AN - SCOPUS:7944222803
VL - 84
SP - 1060
EP - 1070
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 6
ER -