scholarly journals Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

PLoS ONE ◽  
2014 ◽  
Vol 9 (9) ◽  
pp. e106656 ◽  
Author(s):  
Vadieh Ghodsinejad Kalahroudi ◽  
Behnam Kamalidehghan ◽  
Ahoura Arasteh Kani ◽  
Omid Aryani ◽  
Mahdi Tondar ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Oculocutaneous Albinism ◽  
Tyr Gene

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene

2014 ◽  
Vol 24 (2) ◽  
pp. 168-173 ◽  
Author(s):  
Yu-ying Lin ◽  
Ai-hua Wei ◽  
Xin He ◽  
Zhi-yong Zhou ◽  
Shi Lian ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Tyr Gene ◽  
Comprehensive Study

scholarly journals Potential Founder Effect of Tyrosinase Gene Mutations in Oculocutaneous Albinism Families from West of Iran

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Faravareh Khordadpoor Deilamani ◽  
Mohammad Taghi Akbari
Keyword(s):  
Founder Effect ◽  
Gene Mutations ◽  
Homozygosity Mapping ◽  
Oculocutaneous Albinism ◽  
Founder Mutations ◽  
Single Base ◽  
Str Markers ◽  
Tyrosinase Gene ◽  
Similar Haplotype ◽  
Tyr Gene

Background: Non syndromic oculocutaneous albinism type (OCA) is caused by mutations in tyrosinase (TYR), OCA2, TYRP1, MATP (SLC45A2), SLC24A5 and C10ORF11 genes. Screening for mutations is important in families with oculocutaneous albinism patients in order to accurately diagnose the albinism type, genetic counseling and future therapeutic purposes. Objectives: The Aim of this study was to investigate the founder effect of most frequent mutations in OCA patients. Methods: TYR gene was sequenced in 26 unrelated inbred OCA families as well as 56 unrelated healthy individuals. In addition, homozygosity mapping was performed using 13 STR markers for 6 OCA loci (TYR, OCA2, TYRP1, MATP (SLC45A2), SLC24A5 and C10ORF11 genes). Different mutations were found in these genes from which a single base duplication (c.286dupA) and two single base substitutions c.996G > A (p.M332I) and c.230G > A (p.R77Q) had the most frequencies among the OCA families. In order to investigate the founder effect of these mutations, the haplotypes of two STR markers (TYR-S1 and TYR-S2) inside the TYR gene were ascertained. Results: It was revealed that families with similar mutation harbored similar haplotype for the TYR STR markers too. Conclusions: We conclude that these mutations are possible founder mutations in the Iranian population.

In-silico analysis of deleterious missense SNPs of human TYR gene associated with oculocutaneous albinism type 1 (OCA1)

Meta Gene ◽  
2020 ◽  
Vol 24 ◽  
pp. 100674 ◽  
Author(s):  
Malik Siddique Mahmood ◽  
Saba Irshad ◽  
Tehreem Aqdas Butt ◽  
Hina Batool ◽  
Sana Batool ◽  
...  
Keyword(s):  
In Silico ◽  
In Silico Analysis ◽  
Oculocutaneous Albinism ◽  
Tyr Gene ◽  
Silico Analysis

The R402Q mutation of the Tyrosinase Gene: Lack of Association with oculocutaneous albinism type 1 (OCA1).

2004 ◽  
Vol 17 (4) ◽  
pp. 427-427
Author(s):  
R. A. King ◽  
J. Pietsch ◽  
M. J. Brott ◽  
S. Savage ◽  
J. P. Fryer ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Tyrosinase Gene

scholarly journals Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations

2021 ◽  
Author(s):  
B. Zirn ◽  
U. Bernbeck ◽  
K. Alt ◽  
F. Oeffner ◽  
A. Gerhardinger ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Syndrome Type ◽  
Rothmund Thomson Syndrome

scholarly journals The consequences of deglycosylation of recombinant intra-melanosomal domain of human tyrosinase

2017 ◽  
Vol 399 (1) ◽  
pp. 73-77 ◽  
Author(s):  
Monika B. Dolinska ◽  
Yuri V. Sergeev
Keyword(s):  
Oculocutaneous Albinism ◽  
Site Directed Mutagenesis ◽  
Directed Mutagenesis ◽  
Multiple Site ◽  
Insect Larvae ◽  
Melanin Biosynthesis ◽  
Human Tyrosinase

AbstractTyrosinase, a melanosomal glycoenzyme, catalyzes initial steps of the melanin biosynthesis. While glycosylation was previously studiedin vivo, we present three recombinant mutant variants of human tyrosinase, which were obtained using multiple site-directed mutagenesis, expressed in insect larvae, purified and characterized biochemically. The mutagenesis demonstrated the reduced protein expression and enzymatic activity due to possible loss of protein stability and protein degradation. However, the complete deglycosylation of asparagine residuesin vitro, including the residue in position 371, interrupts tyrosinase function, which is consistent with a melanin loss in oculocutaneous albinism type 1 (OCA1) patients.

scholarly journals Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 73 ◽  
Author(s):  
Alberto Falchetti
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Hot Spot ◽  
Gene Mutations ◽  
Causative Gene ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Main Gene ◽  
Clinical Surveillance

Despite its identification in 1997, the functions of the MEN1 gene—the main gene underlying multiple endocrine neoplasia type 1 syndrome—are not yet fully understood. In addition, unlike the RET—MEN2 causative gene—no hot-spot mutational areas or genotype–phenotype correlations have been identified. More than 1,300 MEN1 gene mutations have been reported and are mostly "private” (family specific). Even when mutations are shared at an intra- or inter-familial level, the spectrum of clinical presentation is highly variable, even in identical twins. Despite these inherent limitations for genetic counseling, identifying MEN1 mutations in individual carriers offers them the opportunity to have lifelong clinical surveillance schemes aimed at revealing MEN1-associated tumors and lesions, dictates the timing and scope of surgical procedures, and facilitates specific mutation analysis of relatives to define presymptomatic carriers.

PROGRESSIVE FAMILY INTRAHEPATIC CHOLESTASIS: DIAGNOSTICS, TREATMENT (CLINICAL OBSERVATION)

2021 ◽  
Vol 19 (4) ◽  
pp. 462-467
Author(s):  
A. R. Obuhovich ◽  
◽  
N. N. Iaskevich ◽  
Keyword(s):  
Case Report ◽  
Intrahepatic Cholestasis ◽  
Clinical Observation ◽  
Gene Mutations ◽  
Literature Analysis ◽  
Genetic Progress ◽  
Benign Recurrent Intrahepatic Cholestasis

Jaundice is a manifestation of many diseases both benign and malignant. Genetic progress allowed to distinguish the group of unknown earlier rare cholestatic jaundices, which are resulted from gene mutations. There are no described algorithms of their diagnosis or treatment. In this article case report of the patient with benign recurrent intrahepatic cholestasis type 1 is presented. There is also literature analysis of this theme.

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