An expanded histatin gene polymorphism and test of a possible disease resistant phenotype

Araki, M; Anstey, Nicholas M.; Mwaikambo, Esther D.; Dua, Arnavaz; Amberger, Ed; Azen, Edwin A.

doi:10.1002/(sici)1098-1004(1997)10:1<58::aid-humu8>3.0.co;2-i

Cited by 2 publications

(3 citation statements)

References 16 publications

(18 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The distribution of the 14 remaining SNPs was similar to that found in the Caucasian group and there was no significant difference between the black group as a whole and African or Afro-Caribbean sub-populations. Specific intragenic SNPs in blacks have been recently documented in the ACE, CYP19, HIS2, Dopamine D4 receptor genes and fragile-X syndrome (Barley et al 1996;Dios et al 1998;Araki et al 1997;Liu et al 1996;Fig. 4 Detection of two new "black-specific" PBGD gene SNPs by PCR-DGGE analysis and sequence analysis: (+/+), (-/-), (±) symbols denote homozygous or heterozygous status, respectively.…”

Section: Discussionmentioning

confidence: 93%

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms

et al. 2000

View full text Add to dashboard Cite

Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is a low-penetrant autosomal dominant disorder caused by mutations in the porphobilinogen deaminase (PBGD) or hydroxymethylbilane synthase (HMBS) gene. Although AIP has been identified in all the main ethnic groups, little is known about PBGD gene defects in Africans, Afro-Caribbean and Afro-Americans. We have carried out PBGD gene screening among seven unrelated AIP families and 98 controls belonging to the Afro-Caribbean (French West Indies) and the sub-Saharan African (Morocco, Algeria, Cameroon, Mali, and Burkina Faso) populations. Using denaturing-gradient gel electrophoresis (DGGE) and direct sequencing we characterized six different mutations, including four novel, from the seven AIP families: three splicing defects (IVS 5+2 Ins G; IVS 7+1 G to A in two families; IVS 10-1 G to T); a small deletion (1004 Del G); and two missense mutations (R116 W; A270G). The allele frequencies of the 14 polymorphic sites, previously known in the normal Caucasian population, were similar in Africans and Afro-Caribbean control populations. Interestingly, two common new intragenic polymorphic sites, close to intron/junction boundaries, were identified only in blacks: 1) in intron 2, a single base-pair G deletion at position 3167 (G:0.88; delG:0.12); 2) in intron 10, a A/G dimorphism at position 7052 (A:0.56; G:0.44). These two single nucleotide polymorphisms (SNPs) were never encountered in 750 unrelated Caucasian subjects. The allele frequency distributions of populations within black ethnic groups (Africans and Afro-Caribbean) are similar. This study highlights differences both in PBGD gene mutations causing AIP and in SNPs between white and black peoples; the allele frequencies provided contribute to a better knowledge of the variability of these markers among the major population groups, especially in sub-Saharan West African and Afro-Caribbean populations.

show abstract

Section: Discussionmentioning

confidence: 93%

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms

et al. 2000

View full text Add to dashboard Cite

show abstract

“…Hst-5 is generated as a proteolytic product of histatin 3 (Hst-3), which is encoded by HST2. 3,26 Multiple alleles for HST2 have been identified in people of African descent, [27][28][29] and one of the same alleles is also present in the Japanese population. 30 However, the modifications we studied would not be encoded by these alleles; in fact, only one of the alleles (HST2, identified in people of African descent) would result in an amino acid mutation (R22Q) in the corresponding Hst-5 peptide.…”

Section: Residue Schild Et Al Previously Reported Enrichment Of Clementioning

confidence: 99%

“…30 However, the modifications we studied would not be encoded by these alleles; in fact, only one of the alleles (HST2, identified in people of African descent) would result in an amino acid mutation (R22Q) in the corresponding Hst-5 peptide. 27 Thus, our beneficial modifications to Hst-5 have not been "discovered" by nature through evolution. A likely explanation for this is that our modifications could reduce other beneficial functions of Hst-5 or its precursor Hst-3.…”

Section: Residue Schild Et Al Previously Reported Enrichment Of Clementioning

confidence: 99%

Effects of histatin 5 modifications on antifungal activity and kinetics of proteolysis

et al. 2019

View full text Add to dashboard Cite

show abstract

An expanded histatin gene polymorphism and test of a possible disease resistant phenotype

Cited by 2 publications

References 16 publications

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms

Effects of histatin 5 modifications on antifungal activity and kinetics of proteolysis

Contact Info

Product

Resources

About