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** AWARDS ISSUED PRIOR TO JANUARY 20, 2025, WERE FUNDED UNDER PREVIOUS ADMINISTRATIONS AND MAY NOT REFLECT THE PRIORITIES AND POLICIES OF THE CURRENT ADMINISTRATION.** NORMAL DEVELOPMENT OF GONADS AND SEX CHARACTERISTICS ARE COMPLEX GENETICALLY AND HORMONALLY REGULATED PROCESSES THAT FORM THE FOUNDATION FOR ANIMAL PRODUCTION AND REPRODUCTION. DISORDERS OF SEX DEVELOPMENT ARE CLINICALLY HETEROGENEOUS CONDITIONS WITH NEGATIVE IMPLICATION ON REPRODUCTION BY AFFECTING SEX DETERMINATION, DEVELOPMENT OF GONADS, AND/OR THE FORMATION OF INTERNAL AND EXTERNAL MALE AND FEMALE SEX CHARACTERISTICS. MANY CASES AND FORMS OF DISORDERS OF SEX DEVELOPMENT HAVE BEEN DESCRIBED IN HORSES, OF WHICH MOST APPEAR SPONTANEOUSLY, WHILE A FEW ARE FAMILIAL. DESPITE OF CAUSING INFERTILITY, SEVERAL FORMS OF DISORDERS OF SEX DEVELOPMENT IN HORSES OCCUR RECURRENTLY OR IN FAMILIES, SUGGESTING THE INVOLVEMENT OF INHERENTLY UNSTABLE REGIONS IN THE HORSE GENOME. DISORDERS OF SEX DEVELOPMENT PRESENT AN IMPORTANT PROBLEM BOTH TO THE ANIMALS AND THEIR OWNERS DUE TO THE NEGATIVE IMPACT ON FERTILITY, BEHAVIOR, PERFORMANCE, HEALTH AND WELL-BEING, AND POSSIBLE SPREADING IN FAMILIES. THEY CANALSO BE OF CONSIDERABLE FINANCIAL CONCERN TO THE OWNERS AND BREEDERS, PARTICULARLY IF THEY OCCUR IN ELITE PEDIGREES.AT THE SAME TIME, CURRENT KNOWLEDGE ABOUT THE MOLECULAR CAUSES OF EQUINE DISORDERS OF SEX DEVELOPMENT IS SPARSE AND NO CANDIDATE OR CAUSATIVE GENES OR RISK FACTORS ARE KNOWN FOR MOST. THE SITUATION IS SIMILAR IN OTHER DOMESTIC SPECIES. HERE WE INITIATE SYSTEMATIC RESEARCH ON THE GENOMIC COMPONENT OF THREE RECURRENTLY OBSERVED EQUINE DISORDERS OF SEX DEVELOPMENT: (I) THE FIRST GROUP COMPRISES NORMAL-LOOKING AND CHROMOSOMALLY NORMAL (64,XX) MARES WHO ARE STERILE DUE TO UNDERDEVELOPED (INFANTILE) OVARIES AND UTERUS. CLINICAL DESCRIPTION OF THESE MARES IS IDENTICAL OR VERY SIMILAR TO THE MARES THAT HAVE X-MONOSOMY (63,X) - A SINGLE X CHROMOSOME INSTEAD OF THE NORMAL TWO; (II) THE SECOND GROUP COMPRISES FEMALE-LIKE HORSES WHO ARE GENETICALLY MALE WITH A NORMAL 64,XY MALE KARYOTYPE AND INTACT Y CHROMOSOME WITH A NORMAL 'MALENESS' GENE, SRY, AND (III) THE THIRD GROUP COMPRISES HORSES WITH NORMAL 64,XX FEMALE KARYOTYPE, BUT CLINICAL CHARACTERIZATION AS INTERSEX, HERMAPHRODITE OR OF AMBIGUOUS SEX. WE WILL CARRY OUT A COMPREHENSIVE STUDY OF THE GENOMES OF THESE HORSES BY USING THREE ADVANCED AND COMPLEMENTARY WHOLE GENOME ANALYSIS PLATFORMS COMBINED WITH DETAILED HORMONAL PROFILING. THE IMMEDIATE GOALS ARE TO IDENTIFY A SET OF CANDIDATE DNA SEQUENCE VARIANTS FOR HORSE DISORDERS OF SEX DEVELOPMENT, RELATE THOSE WITH THE CORRESPONDING HORMONAL PROFILES AND CLINICAL PHENOTYPES, AND DESIGN GENETIC TESTS FOR MOLECULAR DIAGNOSTICS. THE IMPROVED KNOWLEDGE ABOUT THE GENOMIC REGULATION OF SEX DEVELOPMENT IN THE HORSE WILL HAVE LIKELY TRANSLATIONAL IMPACT ON OTHER DOMESTIC ANIMALS.

$645,000FY2023National Institute of Food and AgricultureUSDA

Texas A&M Agrilife Research, College Station TX

Investigators

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** AWARDS ISSUED PRIOR TO JANUARY 20, 2025, WERE FUNDED UNDER PREVIOUS ADMINISTRATIONS AND MAY NOT REFLECT THE PRIORITIES AND POLICIES OF THE CURRENT ADMINISTRATION.** NORMAL DEVELOPMENT OF GONADS AND SEX CHARACTERISTICS ARE COMPLEX GENETICALLY AND HORMONALLY REGULATED PROCESSES THAT FORM THE FOUNDATION FOR ANIMAL PRODUCTION AND REPRODUCTION. DISORDERS OF SEX DEVELOPMENT ARE CLINICALLY HETEROGENEOUS CONDITIONS WITH NEGATIVE IMPLICATION ON REPRODUCTION BY AFFECTING SEX DETERMINATION, DEVELOPMENT OF GONADS, AND/OR THE FORMATION OF INTERNAL AND EXTERNAL MALE AND FEMALE SEX CHARACTERISTICS. MANY CASES AND FORMS OF DISORDERS OF SEX DEVELOPMENT HAVE BEEN DESCRIBED IN HORSES, OF WHICH MOST APPEAR SPONTANEOUSLY, WHILE A FEW ARE FAMILIAL. DESPITE OF CAUSING INFERTILITY, SEVERAL FORMS OF DISORDERS OF SEX DEVELOPMENT IN HORSES OCCUR RECURRENTLY OR IN FAMILIES, SUGGESTING THE INVOLVEMENT OF INHERENTLY UNSTABLE REGIONS IN THE HORSE GENOME. DISORDERS OF SEX DEVELOPMENT PRESENT AN IMPORTANT PROBLEM BOTH TO THE ANIMALS AND THEIR OWNERS DUE TO THE NEGATIVE IMPACT ON FERTILITY, BEHAVIOR, PERFORMANCE, HEALTH AND WELL-BEING, AND POSSIBLE SPREADING IN FAMILIES. THEY CANALSO BE OF CONSIDERABLE FINANCIAL CONCERN TO THE OWNERS AND BREEDERS, PARTICULARLY IF THEY OCCUR IN ELITE PEDIGREES.AT THE SAME TIME, CURRENT KNOWLEDGE ABOUT THE MOLECULAR CAUSES OF EQUINE DISORDERS OF SEX DEVELOPMENT IS SPARSE AND NO CANDIDATE OR CAUSATIVE GENES OR RISK FACTORS ARE KNOWN FOR MOST. THE SITUATION IS SIMILAR IN OTHER DOMESTIC SPECIES. HERE WE INITIATE SYSTEMATIC RESEARCH ON THE GENOMIC COMPONENT OF THREE RECURRENTLY OBSERVED EQUINE DISORDERS OF SEX DEVELOPMENT: (I) THE FIRST GROUP COMPRISES NORMAL-LOOKING AND CHROMOSOMALLY NORMAL (64,XX) MARES WHO ARE STERILE DUE TO UNDERDEVELOPED (INFANTILE) OVARIES AND UTERUS. CLINICAL DESCRIPTION OF THESE MARES IS IDENTICAL OR VERY SIMILAR TO THE MARES THAT HAVE X-MONOSOMY (63,X) - A SINGLE X CHROMOSOME INSTEAD OF THE NORMAL TWO; (II) THE SECOND GROUP COMPRISES FEMALE-LIKE HORSES WHO ARE GENETICALLY MALE WITH A NORMAL 64,XY MALE KARYOTYPE AND INTACT Y CHROMOSOME WITH A NORMAL 'MALENESS' GENE, SRY, AND (III) THE THIRD GROUP COMPRISES HORSES WITH NORMAL 64,XX FEMALE KARYOTYPE, BUT CLINICAL CHARACTERIZATION AS INTERSEX, HERMAPHRODITE OR OF AMBIGUOUS SEX. WE WILL CARRY OUT A COMPREHENSIVE STUDY OF THE GENOMES OF THESE HORSES BY USING THREE ADVANCED AND COMPLEMENTARY WHOLE GENOME ANALYSIS PLATFORMS COMBINED WITH DETAILED HORMONAL PROFILING. THE IMMEDIATE GOALS ARE TO IDENTIFY A SET OF CANDIDATE DNA SEQUENCE VARIANTS FOR HORSE DISORDERS OF SEX DEVELOPMENT, RELATE THOSE WITH THE CORRESPONDING HORMONAL PROFILES AND CLINICAL PHENOTYPES, AND DESIGN GENETIC TESTS FOR MOLECULAR DIAGNOSTICS. THE IMPROVED KNOWLEDGE ABOUT THE GENOMIC REGULATION OF SEX DEVELOPMENT IN THE HORSE WILL HAVE LIKELY TRANSLATIONAL IMPACT ON OTHER DOMESTIC ANIMALS. · GrantIndex