Disease relevance of HVCN1

• Hypervariable segments of mitochondrial DNA (mtDNA) (HV1 and HV2) were analyzed in Klinefelter's syndrome and compared to normal population data [1].

High impact information on HVCN1

• This HV1 is absent from the left ventricles of patients with valvular disease, assessed at the time of valve replacement (N = 30, samples provided by Dr P. Menasché) [2].
• Hirulog-1 [D-Phe-Pro-Arg-Pro-[Gly]4-desulphohirudin-(53-64) (HV1)] was designed to bind by its first four and last 12 residues to the alpha-thrombin catalytic site and anion-binding exosite for fibrin(ogen) recognition respectively, with a [Gly]4 bridge and an Arg-Pro bond at the scissional position [3].
• We used several kinds of genetic markers: HV1 sequences of the maternally inherited mitochondrial genome and microsatellites of the paternally inherited Y chromosome and of the biparentally inherited chromosome 8 [4].
• Among these 276 HV1 sequences, 164 individual haplotypes were observed [5].
• To see if genetic differences could be observed among ethnic groups in Sierra Leone, the nucleotide sequence of the hypervariable 1 (HV1) region of mitochondrial DNA (mtDNA) was determined from samples of the two major ethnic groups, the Mende (n=59) and Temne (n=121), and of two minor ethnic groups, the Loko (n=29) and Limba (n=67) [5].

Biological context of HVCN1

• To elucidate the differential roles of N- and C-terminal halves of hirudins in thrombin inhibition, we produced novel recombinant hirudin analogs, CX-397 and CX-397R, having a hybrid amino acid sequence of hirudin variants-1 (HV-1) and -3 (HV-3) [6].
• The protein, namely HV1, was purified as an inducer of apoptosis in cultured vascular endothelial cells [7].
• We analyzed mtDNA HV1 sequences, Y chromosome binary genetic markers, and Y chromosome short tandem repeat (Y-STR) variability in three North Ossetian groups and compared these data to published data for two additional North Ossetian groups and for South Ossetians [8].
• Amplification and direct sequencing of HV1 and HV2 of the mitochondrial genome was the most successful DNA technique [9].
• A set of 11 SNPs selected for distinguishing individuals of the most common Caucasian HV1/HV2 mitotype were incorporated in an allele specific primer extension assay [10].

Anatomical context of HVCN1

• In Xenopus oocytes injected with cRNA derived from HV3 or 4 but not from HV1 or 2, PAF elicited a Ca(2+)-activated Cl- current [11].

Associations of HVCN1 with chemical compounds

• Here we report on the stabilization effect of a zinc chloride induced precipitation of recombinant hirudin HV1 (rHir), an anticoagulant protein [12].
• The amino-acid sequence of HV1 indicated that HV1 belongs to the metalloprotease/disintegrin family, and that it is a multidomain polypeptide with a proprotein domain, a metalloprotease domain, a disintegrin-like domain and a cysteine-rich domain [7].
• The two fluorophore moieties, dansyl and anthraniloyl, were also sensitive to differences in HV1 and HV2-Lys 47 binding, including interactions with loop 145-150 of the thrombin structure where the epsilon- and zeta-thrombin cleavages exist [13].
• In general, the nitroxide immobilization was greater for spin-labeled thrombin complexes with HV2-Lys 47 vs. HV1 [13].
• DNA was extracted from highly adipoceratous tissues using the phenol-chloroform method and polymerase chain reaction amplified for Y-STR haplotyping and sequencing of two hypervariable regions, HV1 and HV2, of the mtDNA [14].

Analytical, diagnostic and therapeutic context of HVCN1

• The quantification of amplicons also provided a method for the rapid evaluation of PCR efficiency of multiplex-PCR versus singleplex-PCR to amplify short HV1 amplicons (around 100 bp) from severely degraded ancient DNA samples [15].
• In order to attempt to clarify the degree of relationships of the five skeletons, sex testing and mitochondrial DNA (mtDNA) sequence analysis of the hypervariable segments I and II (HV1 and HV2) of control region were performed [16].
• Nuclear DNA typing using an AmpFLSTR Profiler kit and mitochondrial DNA (mtDNA) typing of hypervariable regions 1 and 2 (HV1 and HV2) in a control region were performed both with decalcified and non-treated bone powder samples [17].

References