objective: globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of dpy19l2 or mutations in spata16 and pick1 genes associated with globozoospermia. the aim of this study was to analyze the dpy19l2 gene deletion using polymerase chain reaction technique for t...

Mitochondrial DNAs (mtDNAs) from 167 American Indians including 87 Amerind-speakers (Amerinds) and 80 Nadene-speakers (Nadene) were surveyed for sequence variation by detailed restriction analysis. All Native American mtDNAs clustered into one of four distinct lineages, defined by the restriction site variants: HincII site loss at np 13,259, AluI site loss at np 5,176, 9-base pair (9-bp) COII-t...

A novel mechanism generating short deletion/insertions is described based on a mutation in the human alpha2-globin gene. A deletion of 9 bp (codons 39-41) is replaced by an eight nucleotide insertion, duplicating the adjacent downstream sequence. We propose that the mutation arose by slipped strand mispairing (SSM), creating a single-stranded loop, followed by DNA elongation, strand breathing a...

Nkx3.1 is a prostate-specific homeobox gene related strongly to prostate development and prostate cancer. To study its regulation of transcription, 1.06 kb 5' flanking region of Nkx3.1 gene and its 5' deletion mutants (861, 617, 417 and 238 bp) were obtained by PCR and cloned into pGL(3)-basic, a promoter-less luciferase reporter vector, to examine their promoter activities driving the reporter...

The NAD(P)H:quinone oxidoreductase 1 (NQO1) enzyme is implicated in protection against oxidative stress and carcinogenesis. NQO1 C609T genetic polymorphism was reported to be associated with an increased risk for cancers, including breast cancer. However, there is still lack of evidence whether higher oxidative stress occurs in breast tissues of patients with NQO1 609 C/T and/or T/T genotypes. ...

The simian immunodeficiency virus macC8 (SIVmacC8) variant has been used in a European Community Concerted Action project to study the efficacy and safety of live attenuated SIV vaccines in a large number of macaques. The attenuating deletion in the SIVmacC8 nef-long terminal repeat region encompasses only 12 bp and is "repaired" in a subset of infected animals. It is unknown whether C8-Nef ret...

Background & Aims: The most significant cause of infertility in men is the genetic deletion in the azoospermia factor (AZF) region that is caused by the process of intra- and inter-chromosomal homologous recombination in amplicons. Homologous recombination could also result in partial deletions in AZF region. The aim of this research was to determine the association between the partial AZFc del...

We cloned and sequenced full-length cDNAs encoding the beta subunit of thyroid-stimulating hormone (TSHbeta) from the pituitary of fathead minnow (Pimephales promelas) using 5'- and 3'-rapid amplification of cDNA ends (RACE). Three cDNA variants for TSHbeta with lengths of 1184-, 1093-, and 818-bp were identified. The cDNA variant of 1184-bp included 453-bp of open-reading frame and 610-bp of 3...

Dominant white, Dun, and Smoky are alleles at the Dominant white locus, which is one of the major loci affecting plumage color in the domestic chicken. Both Dominant white and Dun inhibit the expression of black eumelanin. Smoky arose in a White Leghorn homozygous for Dominant white and partially restores pigmentation. PMEL17 encodes a melanocyte-specific protein and was identified as a positio...