Investigation of the human stem cell factor KIT ligand gene, KITLG, in women with 46,XX spontaneous premature ovarian failure

Hui, Emily S.; Udofa, Ekemini A.; Soto, Jackeline; Vanderhoof, Vien H.; Zachman, Keith; Tong, Zhi-Bin; Nelson, Lawrence M.

doi:10.1016/j.fertnstert.2005.10.071

Cited by 14 publications

(9 citation statements)

References 41 publications

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“…43 These mice also display symptoms shared with menopausal women and POI patients, including elevated FSH, decreased bone density, and enlarged hearts with reduced cardiac function. Among a limited number of women with POI, KITL mutations are uncommon 44 while little is known with regard to KIT mutations and POI.…”

Section: Genes Involved In Primordial Follicle Activation and Follicumentioning

confidence: 99%

Genomic Markers of Ovarian Reserve

Wood¹,

Rajkovic

2013

Semin Reprod Med

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Ovarian reserve and its utilization, over a reproductive life span, are determined by genetic, epigenetic, and environmental factors. The establishment of the primordial follicle pool and the rate of primordial follicle activation have been under intense study to determine genetic factors that affect reproductive lifespan. Much has been learned from transgenic animal models about the developmental origins of the primordial follicle pool and mechanisms that lead to primordial follicle activation, folliculogenesis, and the maturation of a single oocyte with each menstrual cycle. Recent genome-wide association studies on the age of human menopause have identified approximately 20 loci, and shown the importance of factors involved in double-strand break repair and immunology. Studies to date from animal models and humans show that many genes determine ovarian aging, and that there is no single dominant allele yet responsible for depletion of the ovarian reserve. Personalized genomic approaches will need to take into account the high degree of genetic heterogeneity, family pedigree, and functional data of the genes critical at various stages of ovarian development to predict women's reproductive life span.

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Section: Genes Involved In Primordial Follicle Activation and Follicumentioning

confidence: 99%

Genomic Markers of Ovarian Reserve

Wood¹,

Rajkovic

2013

Semin Reprod Med

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“…1997). KITLG is the ligand of the c‐kit transmembrane tyrosine kinase receptor (KIT), which is also known as stem cell factor (SCF), steel factor (SL), or mast cell growth factor (MGF) (Hui et al. 2006).…”

Section: Association Analysis Of the G769t>c And G817g>t Loci Withmentioning

confidence: 99%

Polymorphism identification in the goat KITLG gene and association analysis with litter size

Hou

et al. 2011

Animal Genetics

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This study reported the analysis of KIT ligand (KITLG) gene polymorphisms in 681 goats of three breeds: Xinong Saanen (SN), Guanzhong (GZ), and Boer (BG). In addition, the study identified three allelic variants: g.769T>C and g.817G>T in SN and GZ breeds, and g.9760G>C in the three goat breeds. The g.769T>C and g.817G>T loci were closely linked (r(2) > 0.33). All the single nucleotide polymorphism loci were in Hardy-Weinberg disequilibrium (P < 0.05). Significant associations were found for litter size with all three loci. Therefore, these results suggest that the KITLG gene is a strong candidate gene affecting litter size in goats.

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“…In approximately 90% of cases with 46XX spontaneous POF, no aetiologic mechanism can be identified. However, the disorder can occur on a familial basis, and there is evidence for a genetic mechanism in at least some cases [26]. It has been stated that POF syndrome may be caused by an impairment in androgen signaling and that X chromosomal mutations affecting the androgen receptor gene function may play a key role in hereditary POF [27][28][29].…”

Section: Follicle Dysfunctionmentioning

confidence: 99%

Premature ovarian failure from current perspective

Kökçü

2010

Gynecological Endocrinology

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Premature ovarian failure (POF) is a syndrome characterised by amenorrhoea, hypoestrogenism and hypergonadotropinism before the age of 40. It is a disorder affecting approximately 1% of women <40 years, 1/1,000 women by the age of 30 and 1/10,000 women by the age of 20. POF is not merely an early menopause. Up to 50% of the patients with POF will have intermittent and unpredictable ovarian function which may persist for some years. Heterogeneity of POF is also reflected by the variety of possible causes, including autoimmunity, toxics, drugs, radiation, infectious as well as genetic defects. HRT remains the cornerstone of treatment and the only proven method of achieving pregnancy in these patients is by ovum donation.

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Investigation of the human stem cell factor KIT ligand gene, KITLG, in women with 46,XX spontaneous premature ovarian failure

Cited by 14 publications

References 41 publications

Genomic Markers of Ovarian Reserve

Genomic Markers of Ovarian Reserve

Polymorphism identification in the goat KITLG gene and association analysis with litter size

Premature ovarian failure from current perspective

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