Cloning and expression of caprine KIT gene and associations of polymorphisms with litter size
X. P. An A , J. X. Hou A , T. Y. Gao A and B. Y. Cao A B
+ Author Affiliations
- Author Affiliations
A College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, China.
B Corresponding author. Email: caobinyun@nwsuaf.edu.cn
Animal Production Science 56(10) 1579-1584 https://doi.org/10.1071/AN13497
Submitted: 22 November 2013 Accepted: 26 March 2015 Published: 17 June 2015
Abstract
The full coding region of KIT mRNA was cloned from the caprine ovary. The results showed the caprine KIT cDNA (GenBank accession number KF364483) contained a 2925-bp open reading frame encoding a protein with 974 amino acid residues. BLAST analysis revealed that the caprine KIT protein had high similarity with that of four species: Ovis aries (99%), Bos taurus (99%), Sus scrofa (94%) and Homo sapiens (90%). The KIT mRNA expression pattern showed that KIT mRNA was expressed highly in kidney, ovary, uterus and breast. Two single nucleotide polymorphisms (g.88430T > A and g.120466G > A) in the caprine KIT gene were detected by PCR–restriction fragment length polymorphism (RFLP) and DNA sequencing in 735 goats of Xinong Saanen, Guanzhong and Boer breeds. The g.88430T > A mutation was a missense mutation (Tyr > Asn at position 409 amino acid of KIT). The association study has been done by jointly analysing all data in one analysis. The result showed that individuals with TT and TA genotypes had their litter size increased by 0.11 and 0.09, respectively, compared with those with AA genotype at the g.88430T > A locus for three goat breeds (P < 0.05). Further analysis revealed that combined genotype TTAA was better than the others for litter size in three goat breeds. Therefore, the biochemical and physiological functions, together with the results obtained in our investigation, suggest that the KIT gene could serve as a genetic marker for litter size in goat breeding.
Additional keywords: coding region, polymorphism.
References
Ardlie KG, Kruglyak L, Seielstad M (2002) Patterns of linkage disequilibrium in the human genome. Nature Reviews. Genetics 3, 299–309.| Patterns of linkage disequilibrium in the human genome.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD38XjtFOrt7w%3D&md5=14ce8570c040a3fd6d0282f17d2d1c94CAS | 11967554PubMed |
Brankin V, Hunter MG, Horan TL, Armstrong DG, Webb R (2004) The expression patterns of mRNA-encoding stem cell factor, internal stem cell factor and c-kit in the prepubertal and adult porcine ovary. Journal of Anatomy 205, 393–403.
| The expression patterns of mRNA-encoding stem cell factor, internal stem cell factor and c-kit in the prepubertal and adult porcine ovary.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2MXks1Khuw%3D%3D&md5=fd76067e6d93835b78b3b1f79cbe1bf7CAS | 15575888PubMed |
Celestino JJ, Bruno JB, Lima-Verde IB, Matos MH, Saraiva MV, Chaves RN, Martins FS, Almeida AP, Cunha RM, Lima LF, Name KP, Campello CC, Silva JR, Bao SN, Figueiredo JR (2010) Steady-state level of kit ligand mRNA in goat ovaries and the role of kit ligand in preantral follicle survival and growth in vitro. Molecular Reproduction and Development 77, 231–240.
| Steady-state level of kit ligand mRNA in goat ovaries and the role of kit ligand in preantral follicle survival and growth in vitro.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3cXotFSmsQ%3D%3D&md5=2246b9b38605844ef80ce797626bbfcbCAS | 20014130PubMed |
Clark DE, Tisdall DJ, Fidler AE, McNatty KP (1996) Localization of mRNA encoding c-kit during the initiation of folliculogenesis in ovine fetal ovaries. Journal of Reproduction & Infertility 106, 329–335.
| Localization of mRNA encoding c-kit during the initiation of folliculogenesis in ovine fetal ovaries.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK28XitFKnt70%3D&md5=fefb196b810db981a00262c3777bf341CAS |
Driancourt MA, Reynaud K, Cortvrindt R, Smitz J (2000) Roles of KIT and KIT LIGAND in ovarian function. Reviews of Reproduction 5, 143–152.
| Roles of KIT and KIT LIGAND in ovarian function.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3cXnt1altLc%3D&md5=29102ee76dc883b23dedf4bc0c76a268CAS | 11006164PubMed |
Galan JJ, De Felici M, Buch B, Rivero MC, Segura A, Royo JL, Cruz N, Real LM, Ruiz A (2006) Association of genetic markers within the KIT and KITLG genes with human male infertility. Human Reproduction (Oxford, England) 21, 3185–3192.
| Association of genetic markers within the KIT and KITLG genes with human male infertility.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD28XhtlChtb%2FO&md5=e8ebf1613ceb532183809165082eaa1aCAS |
Gribaa M, Younes M, Bouyacoub Y, Korbaa W, Ben Charfeddine I, Touzi M, Adala L, Mamay O, Bergaoui N, Saad A (2010) An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation. Journal of Bone and Mineral Metabolism 28, 111–115.
| An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.Crossref | GoogleScholarGoogle Scholar | 19655082PubMed |
Horie K, Takakura K, Taii S, Narimoto K, Noda Y, Nishikawa S, Nakayama H, Fujita J, Mori T (1991) The expression of c-kit protein during oogenesis and early embryonic development. Biology of Reproduction 45, 547–552.
| The expression of c-kit protein during oogenesis and early embryonic development.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK3MXmtVChtb0%3D&md5=207b41199525a1a5e883812d80da7e6cCAS | 1721549PubMed |
Høyer PE, Byskov AG, Mollgard K (2005) Stem cell factor and c-Kit in human primordial germ cells and fetal ovaries. Molecular and Cellular Endocrinology 234, 1–10.
| Stem cell factor and c-Kit in human primordial germ cells and fetal ovaries.Crossref | GoogleScholarGoogle Scholar | 15836947PubMed |
Hutt KJ, McLaughlin EA, Holland MK (2006) Kit ligand and c-Kit have diverse roles during mammalian oogenesis and folliculogenesis. Molecular Human Reproduction 12, 61–69.
| Kit ligand and c-Kit have diverse roles during mammalian oogenesis and folliculogenesis.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD28XjtFSku7Y%3D&md5=b8697ee9b5719960a4021f6f9cb3fac6CAS | 16481408PubMed |
Ismail RS, Okawara Y, Fryer JN, Vanderhyden BC (1996) Hormonal regulation of the ligand for c-kit in the rat ovary and its effects on spontaneous oocyte meiotic maturation. Molecular Reproduction and Development 43, 458–469.
| Hormonal regulation of the ligand for c-kit in the rat ovary and its effects on spontaneous oocyte meiotic maturation.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK28XitVGjs7g%3D&md5=4c6b6836b7b338366b6c72a7971e97eeCAS | 9052937PubMed |
Ismail RS, Dube M, Vanderhyden BC (1997) Hormonally regulated expression and alternative splicing of kit ligand may regulate kit-induced inhibition of meiosis in rat oocytes. Developmental Biology 184, 333–342.
| Hormonally regulated expression and alternative splicing of kit ligand may regulate kit-induced inhibition of meiosis in rat oocytes.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK2sXjtVaht7w%3D&md5=61f847ce51a28711f293d1d13de52fcfCAS | 9133439PubMed |
Jin X, Han CS, Yu FQ, Wei P, Hu ZY, Liu YX (2005) Anti-apoptotic action of stem cell factor on oocytes in primordial follicles and its signal transduction. Molecular Reproduction and Development 70, 82–90.
| Anti-apoptotic action of stem cell factor on oocytes in primordial follicles and its signal transduction.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2cXhtVOitr3M&md5=2970d66265ea6f96b28518a1206eb749CAS | 15515061PubMed |
John GB, Shidler MJ, Besmer P, Castrillon DH (2009) Kit signaling via PI3K promotes ovarian follicle maturation but is dispensable for primordial follicle activation. Developmental Biology 331, 292–299.
| Kit signaling via PI3K promotes ovarian follicle maturation but is dispensable for primordial follicle activation.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXpt1Wmur8%3D&md5=2c3ff09b203698a10fddb78c65ce8925CAS | 19447101PubMed |
Lemmon MA, Pinchasi D, Zhou M, Lax I, Schlessinger J (1997) Kit receptor dimerization is driven by bivalent binding of stem cell factor. The Journal of Biological Chemistry 272, 6311–6317.
| Kit receptor dimerization is driven by bivalent binding of stem cell factor.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK2sXhvVOnsbw%3D&md5=b1a66ca9988ddbb800ac7e2a6d65c733CAS | 9045650PubMed |
Mahakali Zama A, Hudson FP, Bedell MA (2005) Analysis of hypomorphic KitlSl mutants suggests different requirements for KITL in proliferation and migration of mouse primordial germ cells. Biology of Reproduction 73, 639–647.
| Analysis of hypomorphic KitlSl mutants suggests different requirements for KITL in proliferation and migration of mouse primordial germ cells.Crossref | GoogleScholarGoogle Scholar | 15917341PubMed |
Motro B, Bernstein A (1993) Dynamic changes in ovarian c-kit and Steel expression during the estrous reproductive cycle. Developmental Dynamics 197, 69–79.
| Dynamic changes in ovarian c-kit and Steel expression during the estrous reproductive cycle.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DyaK2c%2FgtlCmug%3D%3D&md5=1761e6f352d98c415e98fdf6caf79afaCAS | 7691275PubMed |
Okumura N, Matsumoto T, Hamasima N, Awata T (2008) Single nucleotide polymorphisms of the KIT and KITLG genes in pigs. Animal Science Journal 79, 303–313.
| Single nucleotide polymorphisms of the KIT and KITLG genes in pigs.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1cXosFGqsb4%3D&md5=17191ad2f6ee014c6a81e647ecf711ecCAS |
Otsuka F, Shimasaki S (2002) A negative feedback system between oocyte bone morphogenetic protein 15 and granulosa cell kit ligand: its role in regulating granulosa cell mitosis. Proceedings of the National Academy of Sciences of the United States of America 99, 8060–8065.
| A negative feedback system between oocyte bone morphogenetic protein 15 and granulosa cell kit ligand: its role in regulating granulosa cell mitosis.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD38XkvVGjtb4%3D&md5=2e24f50f8be945e4c16c147283ee73f9CAS | 12048244PubMed |
Parrott JA, Skinner MK (1999) Kit-ligand/stem cell factor induces primordial follicle development and initiates folliculogenesis. Endocrinology 140, 4262–4271.
| Kit-ligand/stem cell factor induces primordial follicle development and initiates folliculogenesis.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK1MXlslSru7k%3D&md5=a6a6cf61c000b5e3064672ad123cf823CAS | 10465300PubMed |
Prasanth SG, Giran HM, Ali S (2004) Biology of protooncogene c-kit receptor and spermatogenesis. Current Pharmacogenomics 2, 47–60.
| Biology of protooncogene c-kit receptor and spermatogenesis.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2cXisFWntb0%3D&md5=fb3ab11e7602026faeeabb7a03e4a5ecCAS |
Reynaud K, Cortvrindt R, Smitz J, Driancourt MA (2000) Effects of Kit ligand and anti-Kit antibody on growth of cultured mouse preantral follicles. Molecular Reproduction and Development 56, 483–494.
| Effects of Kit ligand and anti-Kit antibody on growth of cultured mouse preantral follicles.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3cXkslKltbk%3D&md5=ee613aa1e088df83e1f3169aa9bf249cCAS | 10911398PubMed |
Selvaggi M, Dario C, Normanno G, Celano GV, Dario M (2009) Genetic polymorphism of STAT5A protein: relationships with production traits and milk composition in Italian Brown cattle. The Journal of Dairy Research 76, 441–445.
| Genetic polymorphism of STAT5A protein: relationships with production traits and milk composition in Italian Brown cattle.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXht1Gmtb7M&md5=6e14edd281aa72f2a18938bc3b322d40CAS | 19638264PubMed |
Silva JR, van den Hurk R, van Tol HT, Roelen BA, Figueiredo JR (2006) The Kit ligand/c-Kit receptor system in goat ovaries: gene expression and protein localization. Zygote (Cambridge, England) 14, 317–328.
| The Kit ligand/c-Kit receptor system in goat ovaries: gene expression and protein localization.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD28Xht1OntLrK&md5=3b378fdd1b636b22e3a94bde6d49d020CAS |
Sorte H, Morkrid L, Rodningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012) Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. European Journal of Medical Genetics 55, 196–202.
| Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.Crossref | GoogleScholarGoogle Scholar | 22306853PubMed |
Tisdall DJ, Quirke LD, Smith P, McNatty KP (1997) Expression of the ovine stem cell factor gene during folliculogenesis in late fetal and adult ovaries. Journal of Molecular Endocrinology 18, 127–135.
| Expression of the ovine stem cell factor gene during folliculogenesis in late fetal and adult ovaries.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK2sXivFWktr8%3D&md5=84099fbace076369a49c68bd07999b8bCAS | 9134499PubMed |
Tisdall DJ, Fidler AE, Smith P, Quirke LD, Stent VC, Heath DA, McNatty KP (1999) Stem cell factor and c-kit gene expression and protein localization in the sheep ovary during fetal development. Journal of Reproduction & Infertility 116, 277–291.
| Stem cell factor and c-kit gene expression and protein localization in the sheep ovary during fetal development.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK1MXkslOltLc%3D&md5=8758aeeccfe77053b5eb83843a8885caCAS |
Zhao HB, Zheng HQ, Li XL, Zhou RY, Li LH (2011) Characterization, single nucleotide polymorphism (SNP) identification and variation of goat c-Kit gene in different populations. Journal of Medicinal Plants Research 5, 3922–3928.
