The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene

Lüleyap, H. Ümit; Alptekin, Davut; Pazarbaşı, Ayfer; Kasap, Mülkiye; Kasap, Halil; Demırhındı, Hakan; Mungan, Neslihan; Özer, Güler; Froster, Ursula G.

doi:10.1016/j.mrfmmm.2006.05.006

Cited by 6 publications

(9 citation statements)

References 20 publications

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“…Arginine residues are very highly mutable due to the deamination of 5′-CpG dinucleotides of arginine codons 61 62. Four of the six codons that encode arginine contain CpG dinucleotides, thus partly explaining the tendency of the arginine codon to mutate 61 63. The deamination of CpG dinucleotides occurs due to methylation-mediated deamination of 5-methylcystosine in CpG dinucleotides 61 62.…”

Section: Discussionmentioning

confidence: 99%

“…The deamination of CpG dinucleotides occurs due to methylation-mediated deamination of 5-methylcystosine in CpG dinucleotides 61 62. In phenylketonuria, arginine mutations also have the highest frequency of all PAH gene mutations 63. Furthermore, it has been shown that specific arginine residues in keratin K-14 (K14-R125) and K-10 (K10-R156) are mutated at high frequency in patients with severe epidermal bullosa simplex and epidermolytic hyperkeratosis because both codons contain CpG dinucleotides 64…”

Section: Discussionmentioning

confidence: 99%

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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

Farasat

Wei

Herman

et al. 2008

Journal of Medical Genetics

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

Farasat

Wei

Herman

et al. 2008

Journal of Medical Genetics

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“…Neither P281L, nor E178G, have been found in any other Jewish communities. While P281L has been reported to be relatively frequent in Greece (almost 19% of the alleles), the mutation, E178G, appears to be rare in non‐Jewish populations around the world (Lüleyap et al . 2006).…”

Section: Discussionmentioning

confidence: 99%

“…It is interesting to note that mutations, which are particularly frequent in both non‐Ashkenazi Jews and Arabs, have been reported in the Mediterranean region. The mutation IVS10‐11G>A is considered to be a Mediterranean mutation, and R261Q is particularly frequent, in France (17% of the alleles), Turkey (7%) and Italy (9%) (Lüleyap et al . 2006).…”

Section: Discussionmentioning

confidence: 99%

A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population

Bercovich

Elimelech

Yardeni

et al. 2008

Annals of Human Genetics

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SummaryHyperphenylalaninemia (HPA) is a group of diseases characterized by a persistent elevation of phenylalanine levels in tissues and biological fluids. The most frequent form is phenylalanine hydroxylase deficiency, causing phenylketonuria (PKU). Among 159 Israeli patients (Jews, Muslim and Christian Arabs and Druze) with HPA, in whom at least one of the mutations was characterized, a total of 43 different mutations were detected, including seven novel ones. PKU was very rare among Ashkenazi Jews and relatively frequent among Jews from Yemen, the Caucasian Mountains, Bukhara and Tunisia. The mutations responsible for the high frequency were: exon3del (Yemenite Jews), L48S (Tunisian Jews) and E178G, P281L and L48S (Jews from the Caucasian Mountains and Bukhara). Among the non-Jewish Israeli citizens, the disease was relatively frequent in the Negev and in the Nazareth vicinity, and in many localities a unique mutation was detected, often in a single family. While marked genetic heterogeneity was observed in the Arab and Jewish populations, only one mutation A300S, was frequent in all of the communities. Several of the other frequent mutations were shared by the non-Ashkenazi Jews and Arabs; none were mutual to Ashkenazi Jews and Arabs.

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“…This high frequency may in-turn indicate that the active domain of the enzyme may be coded at this region 20 .…”

Section: Discussionmentioning

confidence: 99%

Türk hastalarda Fenilalanin Hidroksilaz gen mutasyonlarının dizileme ve ARMS teknikleri ile incelenmesi

Lüleyap¹,

Pazarcı²,

Cömertpay³

et al. 2016

Cukurova Medical Journal (Çukurova Üniversitesi Tıp Fakültesi Dergisi)

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AbstractÖz Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed. Material and Methods: 23 unrelated phenylketonuria patients (46 alleles) who are living in Cukurova region, Turkey were investigated.First, all exons were screened by using DHPLC method then the direct sequencing technique and ARMS methods were used to analyze mutation suspected samples. Results: IVS10-11g→a splicing mutation in 27 alleles (58.7%), R261Q mutation in 7 alleles (15.2%) and E178G, P281L, R243X, R243Q, R408W, Y386C mutations, all in a frequency of 2/46 (4.3%) is found. Conclusion:The arginine amino acid, accounting for 68.4% of changes in exon sites 7 and 12, where R243X, R243Q, R261Q and R408W mutations occur, is thought to be important for amino acid changes in phenylalanine hydroxylase gene among phenylketonuria patients in Çukurova region. Single-base mutations like IVS10-11g→a and P281L could be detected with an accuracy of 100% by the use of specifically designed primers by authors according to ARMS technique and it is relatively cheaper and requesting less technical equipment.Amaç: Fenilketonüri, hepatik bir enzim olan fenilalanin hidroksilazın otozomal resesif bozukluğu sonucu ortaya çıkan bir durumdur. Bu çalışmada, Türk popülasyonunda en sık görülen fenilalanin hidroksilaz geni mutasyonlarını belirlemek amaçlandı. Gereç ve Yöntem: Öncelikle tüm ekson bölgeleri DHPLC metodu kullanılarak tarandı. Ardından mutasyon şüphesi taşıyan örnekler sekanslama ve ARMS yöntemleri kullanılarak analiz edildi. Bulgular: IVS10-11g→a splayzing mutasyonu 27 allelde (%58,7), R261Q mutasyonu 7 allelde (%15,2) ve E178G, P281L, R243X, R243Q, R408W, Y386C mutasyonları ise 2'şer allelde (%4,3) tespit edildi. Sonuç: R243X, R243Q, R261Q ve R408W mutasyonlarının oluştuğu 7 ve 12'inci ekson bölgelerinde arginin aminoasidinin değişimi Çukurova bölgesindeki fenilketonüri hastalarında fenilalanin hidroksilaz geni mutasyonlarında önemli bir yer tutmaktadır (%68,4). IVS10-11g→a ve P281L gibi tek baz mutasyonları bizim tarafımızdan dizayn edilmiş primerler ve ARMS tekniği kullanılarak daha ucuza, daha az teknik ekipmanla ve %100 doğrulukla tespit edilebilmektedir.

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The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene

Cited by 6 publications

References 20 publications

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population

Türk hastalarda Fenilalanin Hidroksilaz gen mutasyonlarının dizileme ve ARMS teknikleri ile incelenmesi

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