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Biochemical Genetics (v.39, #7-8)


Cloning and Characterization of KLHL5, a Novel Human Gene Encoding a Kelch-Related Protein with a BTB Domain by Shu Wang; Zongxiang Zhou; Kang Ying; Rong Tang; Yan Huang; Chaoqun Wu; Yi Xie; Yumin Mao (pp. 227-238).
Most kelch family proteins contain two conserved domains, the BTB domain and the kelch repeat domain. Here we describe the cloning and characterization of a novel human KLHL5 gene. The 3488 bp cDNA encodes a kelch family protein homologous to the Drosophila kelch protein. It also contains the two conserved domains. Northern blot analysis reveals a single transcript. It is abundantly expressed in ovary, adrenal gland, and thyroid and less abundantly expressed in trachea, prostate, testis, lymph node, and spinal cord. KLHL5 was mapped to 4p13–4p15.1.

Keywords: human KLHL5 gene; kelch; BTB domain; BTB/kelch protein; actin binding


Differences in Charge and Kinetic Properties of Alcohol Dehydrogenase 4 from C57BL/6 Mice Compared to Other Inbred Strains Are Associated with a Cysteine120 to Arginine120 Substitution by Daniel E. A. Dolney; Gabor Szalai; Michael R. Felder (pp. 239-250).
Alcohol dehydrogenase class IV (ADH4) participates in retinol metabolism and is expressed primarily in ocular, digestive, and reproductive tissues of the mouse. A naturally occurring genetic variant in C57BL/6J mice results in a faster migrating ADH4 enzyme during electrophoresis when compared to other non-C57BJ/6J strains. The C57BL/6 ADH4 gene coding sequence is found to have two nucleotide substitutions when compared to the gene from C3HeB/FeJ mice. The substitution in exon 5 encodes Arg120 instead of Cys120 in C57BL/6 ADH4 polypeptide; that would account for the protein electrophoretic phenotype. Arg120 is present in all published mammalian ADH4 sequences but is only in a limited number of mouse strains. The Arg120 residue is part of the outer loop of the substrate binding pocket and appears to have an effect on the affinity of the enzyme for several substrates.

Keywords: mouse; alcohol dehydrogenase; allozymes


Three Types of Polymorphisms in Exon 14 in Porcine Mx1 Gene by Takeya Morozumi; Cece Sumantri; Emiko Nakajima; Eiji Kobayashi; Atushi Asano; Takao Oishi; Tadayoshi Mitsuhashi; Tomomasa Watanabe; Noriyuki Hamasima (pp. 251-260).
Much is known about the antiviral activity of Mx proteins in species such as mouse and human. In the mouse, loss of resistibility to influenza virus has been shown to be due to specific polymorphisms in the Mx gene. This gene is therefore an interesting candidate gene for disease resistance in farm animals. The porcine Mx1 gene has already been identified and characterized based on its homology with mouse Mx1; however, until now no evidence of polymorphisms in the porcine gene has been reported. In this study, we have found two new polymorphisms in exon 14 of porcine Mx1 by DNA sequencing and confirmed their presence in different breeds, using polymerase chain reaction (PCR)–restriction fragment length polymorphisms (RFLP) with NarI and NaeI restriction enzymes. On the basis of the deduced amino acid sequence, one allele contains a deletion that may result in a frameshift to yield several amino acid substitutions and extension of the carboxyl terminal region of Mx1 protein. The deletion allele, Mx1 c, was found to be segregating in Landrace, Berkshire, Duroc, Hampshire, and Yucatan miniature pig. A second point mutation, Mx1 b, was detected in Meishan and two Vietnamese native pig breeds. All other breeds tested were fixed for the Mx1 a allele that is identical to the sequence reported previously. It will be interesting to determine if the Mx1 c deletion is associated with variation in resistance to the myxovirus family in the pig.

Keywords: swine; Mx1 ; PCR–RFLP; polymorphism; exon; sequencing


Marker Assisted Selection of Bacterial Blight Resistance Genes in Rice by A. P. Davierwala; A. P. K. Reddy; M. D. Lagu; P. K. Ranjekar; V. S. Gupta (pp. 261-278).
Bacterial leaf blight caused by Xanthomonas oryzae pv. oryzae is one of the most important diseases affecting rice production in Asia. We were interested in surveying rice genotypes that are popularly used in the Indian breeding program for conferring resistance to bacterial blight, using 11 STMS and 6 STS markers. The basis of selection of these DNA markers was their close linkage to xa5, xa13, and Xa21 genes and their positions on the rice genetic map relative to bacterial blight resistance genes. Eight lines were found to contain the xa5 gene while two lines contained Xa21 gene and none of the lines contained the xa13 gene with the exception of its near-isogenic line. Using the polymorphic markers obtained in the initial survey, marker-assisted selection was performed in the F3 population of a cross between IR-64 and IET-14444 to detect lines containing multiple resistance genes. Of the 59 progeny lines analyzed, eight lines contained both the resistance genes, xa5 and Xa4.

Keywords: rice; bacterial blight; resistance genes; marker assisted selection

Note: Low Genetic Variation of Penaeus chinensis as Revealed by Mitochondrial COI and 16S rRNA Gene Sequences by Jiexia Quan; Xue-mei Lü; Zhimeng Zhuang; Jixun Dai; Jingyao Deng; Ya-ping Zhang (pp. 279-284).
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