Novel TSHbeta subunit gene mutation causing congenital central hypothyroidism in a newborn male.

Newborn screening programs that use only high TSH levels as a marker for hypothyroidism may overlook neonates with congenital hypothyroidism (CH) due to TSH deficiency. We sought the cause of TSH deficiency in a neonate with low levels of thyroxine and TSH. The coding region of the TSHbeta gene was amplified and its sequence examined for mutations.

Molecular cloning and characterization of the mouse Acdp gene family.

Background: We have recently cloned and characterized a novel gene family named ancient conserved domain protein (ACDP) in humans. To facilitate the functional study of this novel gene family, we have cloned and characterized Acdp, the mouse homologue of the human ACDP gene family.

Results: The four Acdp genes (Acdp1, Acdp2, Acdp3 and Acdp4) contain 3,631 bp, 3,244 bp, 2,684 bp and 2,743 bp of cDNA sequences, and encode deduced proteins of 951, 874, 713 and 771 amino acids, respectively.

Microarray analysis of gene expression in the kidneys of new- and post-onset diabetic NOD mice.

We profiled the expression of 5,760 clones from a kidney subtraction library in the kidneys of three groups of NOD mice: nondiabetic, new-onset, and long-term diabetic. A total of 27 genes had lower expression and 1 gene (Gpx3) had higher expression in the new-onset diabetic mice compared with nondiabetic control NOD mice (P < 0.001).

High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.

The urofacial (Ochoa) syndrome (UFS) characterized by congenital obstructive uropathy and abnormal facial expression is a rare disorder caused by a single recessive disease gene. Our previous studies using homozygosity mapping have located the UFS gene to a genomic interval of approximately 360 kb on chromosome 10q23-10q24. In this study, we have constructed a genomic sequence map covering the entire UFS interval and narrowed the disease interval to a genomic region of 220 kb that harbor the newly identified ACDP1 gene in addition to part of the GOT1 gene which has already been excluded as a candidate for UFS.

Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP).

We have recently cloned four novel human genes that encode the ancient conserved domain proteins (ACDP). The full-length cDNA sequence of ACDP1 consists of 5898 bp and encodes a predicted protein of 951 amino acids (AA). The transcript for ACDP2 has 4058 bp of cDNA sequence, encoding a protein of 875 AA.