Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development

Indian Journal of Human Genetics

Volumn 19, Issue 4, 2013, Pages 437-442

  Das, Dhanjit Kumar ^a   Rahate, Subodh G ^a   Mehta, Bhakti P ^a   Gawde, Harshavardhan M ^a   Tamhankar, Parag M ^a  

^a Genetic Research Centre India   (India)

Author keywords

Disorders of sex development; mitogen activated protein kinase kinase kinase 1; mutation

Indexed keywords

ASPARTIC ACID; GENOMIC DNA; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE 1; SONIC HEDGEHOG PROTEIN; STEROIDOGENIC FACTOR 1;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTATION; DISORDER OF SEX DEVELOPMENT; EXON; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; GONADAL DYSGENESIS; HUMAN; HYPOSPADIAS; INDIAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SILENT MUTATION; SRY GENE;

EID: 84900295239     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.124372     Document Type: Article

References (10)

1. Hersmus R, Stoop H, White SJ, Drop SL, Oosterhuis JW, Incrocci L, et al. Delayed Recognition of Disorders of Sex Development (DSD): A missed opportunity for early diagnosis of malignant germ cell tumors. Int J Endocrinol 2012;2012:671209.
2. Ludbrook LM, Bernard P, Bagheri-Fam S, Ryan J, Sekido R, Wilhelm D, et al. Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9). Endocrinology 2012;153:1948-58.
3. Karandikar M, Xu S, Cobb MH. MEKK1 binds raf-1 and the ERK2 cascade components. J Biol Chem 2000;275:40120-7.
4. Pearson G, Robinson F, Beers Gibson T, Xu BE, Karandikar M, Berman K, et al. Mitogen-activated protein (MAP) kinase pathways: Regulation and physiological functions. Endocr Rev 2001;22:153-83.
5. Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, et al. Mutations in MAP3K1 cause 46, XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet 2010;87:898-904.
6. Warr N, Bogani D, Siggers P, Brixey R, Tateossian H, Dopplapudi A, et al. Minor abnormalities of testis development in mice lacking the gene encoding the MAPK signalling component, MAP3K1. PLoS One 2011;6:e19572.
7. Ahmed SF, Bashamboo A, Lucas-Herald A, McElreavey K. Understanding the genetic aetiology in patients with XY DSD. Br Med Bull 2013;106:67-89.
8. Das DK, Sanghavi D, Gawde H, Idicula-Thomas S, Vasudevan L. Novel homozygous mutations in Desert hedgehog gene in patients with 46, XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods. Eur J Med Genet 2011;54:e529-34.
9. Roberts PJ, Der CJ. Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer. Oncogene 2007;26:3291-310.
10. Szczepankiewicz A, Sobkowiak P, Rachel M, Brborowicz A, Schoneich N, Bruce K, et al. Multilocus analysis of candidate genes involved in neurogenic inflammation in pediatric asthma and related phenotypes: A case-control study. J Asthma 2012;49:329-35.